Science.gov

Sample records for las anemias nutricionales

  1. Anemia

    MedlinePLUS

    MENU Return to Web version Anemia Overview What is anemia? Anemia is a condition that affects your red blood cells. Your red blood ... anemia, but this does not happen often. Diagnosis & Tests How is anemia diagnosed? Talk to your doctor ...

  2. Anemia

    MedlinePLUS

    ... causes: blood loss, lack of red blood cell production, and high rates of red blood cell destruction. Conditions that may lead to anemia include Heavy ... the kind of anemia you have. NIH: National Heart, Lung, and Blood Institute

  3. Anemia

    MedlinePLUS

    ... reasons. A person may have a disorder like sickle cell anemia or spherocytosis . In other cases, the body's own ... MORE ON THIS TOPIC The Deal With Diets Sickle Cell Anemia My Friend Has Sickle Cell Disease. How Can ...

  4. Anemia

    MedlinePLUS

    ... red blood cells. This process requires iron, the vitamins B12 and folic acid (or folate). Erythropoietin (EPO) stimulates ... Several factors can cause anemia: Too little iron, vitamin B12 or folate. A shortage of folate can cause ...

  5. Pernicious anemia

    MedlinePLUS

    ... achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B12 deficiency (malabsorption) ... Pernicious anemia is a type of vitamin B12 anemia. The body needs ... cells. You get this vitamin from eating foods such as meat, ...

  6. Hemolytic anemia

    MedlinePLUS

    ... anemia. In: Hoffman R, Benz EJ Jr, Silberstein LE, et al., eds. Hematology: Basic Principles and Practice . ... anemias. In: Hoffman R, Benz EJ Jr, Silberstein LE, et al., eds. Hematology: Basic Principles and Practice . ...

  7. Aplastic Anemia

    MedlinePLUS

    Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't ... frequent infections and bleeding. Your doctor will diagnose aplastic anemia based on your medical and family histories, a ...

  8. About Anemia

    MedlinePLUS

    ... the shape changes, as is the case in sickle cell anemia , the red blood cells can get stuck and ... hard for them to move throughout the body. Sickle cell anemia is one of many genetic conditions that can ...

  9. Hemolytic Anemia

    MedlinePLUS

    ... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Anemia Blood Transfusion Rh Incompatibility Sickle Cell Disease Thalassemias Send a link to NHLBI to ...

  10. Aplastic Anemia

    MedlinePLUS

    ... and platelets. This is because the bone marrow's stem cells are damaged. (Aplastic anemia also is called bone marrow failure.) Many diseases, conditions, and factors can damage the stem cells. ...

  11. Anemia of chronic disease

    MedlinePLUS

    ... There are many types of anemia. Anemia of chronic disease is anemia that is found in people with ... blood. Some conditions can lead to anemia of chronic disease include: Autoimmune disorders , such as Crohn disease , systemic ...

  12. Pernicious Anemia

    MedlinePLUS

    ... blood cells because it doesn't have enough vitamin B12. Vitamin B12 is a nutrient found in some foods. The ... who have pernicious anemia can't absorb enough vitamin B12 from food. This is because they lack intrinsic ( ...

  13. What Causes Aplastic Anemia?

    MedlinePLUS

    ... to aplastic anemia. Examples include Fanconi anemia , Shwachman-Diamond syndrome, dyskeratosis (DIS-ker-ah-TO-sis) congenita, and Diamond-Blackfan anemia. Rate This Content: NEXT >> Featured Video ...

  14. Sickle cell anemia - resources

    MedlinePLUS

    Resources - sickle cell anemia ... The following organizations are good resources for information on sickle cell anemia : American Sickle Cell Anemia Association -- www.ascaa.org/ National Heart, Blood, and Lung Institute -- www. ...

  15. Anemia (For Parents)

    MedlinePLUS

    ... sickle cell anemia, thalassemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, and hereditary spherocytosis. Sickle cell anemia is ... in less severe anemia. Glucose-6-phosphate dehydrogenase (G6PD) deficiency most commonly affects males of African heritage, ...

  16. What Causes Anemia?

    MedlinePLUS

    ... blood cells to cause anemia. Lack of Red Blood Cell Production Both acquired and inherited conditions and factors ... can cause aplastic anemia. High Rates of Red Blood Cell Destruction Both acquired and inherited conditions and factors ...

  17. The Anemias of Athletes.

    ERIC Educational Resources Information Center

    Eichner, Edward R.

    1986-01-01

    Diagnosing anemia in athletes is complicated because athletes normally have a pseudoanemia that needs no treatment. Athletes, however, can develop anemia from iron deficiency or footstrike hemolysis, which require diagnosis and treatment. (Author/MT)

  18. [Iron dysregulation and anemias].

    PubMed

    Ikuta, Katsuya

    2015-10-01

    Most iron in the body is utilized as a component of hemoglobin that delivers oxygen to the entire body. Under normal conditions, the iron balance is tightly regulated. However, iron dysregulation does occasionally occur; total iron content reductions cause iron deficiency anemia and overexpression of the iron regulatory peptide hepcidin disturbs iron utilization resulting in anemia of chronic disease. Conversely, the presence of anemia may ultimately lead to iron overload; for example, thalassemia, a common hereditary anemia worldwide, often requires transfusion, but long-term transfusions cause iron accumulation that leads to organ damage and other poor outcomes. On the other hand, there is a possibility that iron overload itself can cause anemia; iron chelation therapy for the post-transfusion iron overload observed in myelodysplastic syndrome or aplastic anemia improves dependency on transfusions in some cases. These observations reflect the extremely close relationship between anemias and iron metabolism. PMID:26458428

  19. Inborn anemias in mice

    SciTech Connect

    Bernstein, S.E.; Barker, J.E.; Russell, E.S.

    1981-06-01

    hereditary anemias of mice have been the chief objects of investigation. At present under study are four macrocytic anemias, five hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, an ..cap alpha..-thalassemia, and a new target-cell anemia. Each of these blood dyscrasias is caused by the action of a unique mutant gene, which determines the structure of different intracellular molecules, and thus controls a different metabolic process. Thus our wide range of different hereditary anemias has considerable potential for uncovering many different aspects of hemopoietic homeostatic mechanisms in the mouse. Each anemia is studied through: (a) characterization of peripheral blood values, (b) determinations of radiosensitivity under a variety of conditions, (c) measurements of iron metabolism and heme synthesis, (d) histological and biochemical study of blood-forming tissue, (e) functional tests of the stem cell component, (f) examination of responses to erythroid stimuli, and (g) transplantation of tissue between individuals of differently affected genotypes.

  20. Genetics Home Reference: Anemia

    MedlinePLUS

    ... on Genetics Home Reference: acute promyelocytic leukemia alpha thalassemia atypical hemolytic-uremic syndrome beta thalassemia Coats plus syndrome congenital dyserythropoietic anemia Diamond-Blackfan ...

  1. How Is Pernicious Anemia Treated?

    MedlinePLUS

    ... Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia ... Pernicious anemia usually is easy to treat with vitamin B12 shots or pills. If you have severe pernicious ...

  2. Iron-Deficiency Anemia (For Parents)

    MedlinePLUS

    ... Foods for Babies Formula Feeding FAQs: Getting Started Vegan Food Guide Vegetarianism Anemia Word! Anemia About Anemia ... Anemia Anemia Blood Test: Complete Blood Count Blood Vegan Food Guide Vitamins and Minerals Contact Us Print ...

  3. Sickle Cell Anemia

    MedlinePLUS

    Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don' ... problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one ...

  4. HEMOLYTIC ANEMIA Erythrocytes premature

    E-print Network

    HEMOLYISIS · Within the Macrophages of the Spleen, liver, or BM · Causes · Inherited RBC Defects · Acquired EXTRINSIC DEFECTS · Antagonistic Plasma Factors · Traumatic Physical Cell Injury · Immune Medicated Cell of the Newborn HEMOLYTIC ANEMIA CAUSED BY PHYSICAL INJURY TO THE ERYTHROCYTE · Microangiopathic Hemolytic Anemia

  5. Hematologic Disorders: Anemia.

    PubMed

    Baltierra, David; Harper, Tiffany; Jones, Matthew Page; Nau, Konrad C

    2015-06-01

    Anemia occurs in up to 25% of the US population. Normal hemoglobin levels vary by race, sex, and age. Classification of anemia by mean corpuscular volume guides the differential diagnosis and evaluation. Iron studies, reticulocyte count, the red blood cell distribution width index, and blood test results are used to make the diagnosis. Iron deficiency anemia is the most common microcytic anemia and is managed with iron therapy. Parenteral iron is available when the oral route cannot be used. Patients who do not benefit from therapy should be evaluated for adherence, malabsorption, occult bleeding, systemic disease, or less common inherited disorders. A source of gastrointestinal bleeding is found in 60% to 70% of patients with iron deficiency anemia who are referred for endoscopy. Normocytic anemia has a broad differential, including nutritional deficiencies, blood loss, renal disease, malignancy (solid tumors or hematologic cancer), rheumatologic disorders, endocrine disorders, and other systemic diseases. Macrocytic anemias are seen with vitamin B12 and folate deficiency, alcohol use, thyroid disease, hydroxyurea, antiretroviral drugs, myelodysplastic syndromes, and myeloma. Oral vitamin B12 is underused, and can be as effective as intramuscular vitamin B12 in managing anemia due to vitamin B12 deficiency. PMID:26080453

  6. Fifth Cooley's anemia symposium

    SciTech Connect

    Bank, A.; Anderson, W.F.; Zaino, E.C.

    1985-01-01

    This book discusses the topics presented at the symposium on the subject of 'Thalassemia'. Sickle cell anemia is also briefly discussed. The aspects discussed are chromosomal defects of anemias particularly globin synthesis, and the role of messenger RNA and other chromosomes.

  7. Folate-deficiency anemia

    MedlinePLUS

    ... type of B vitamin. It is also called folic acid. Anemia is a condition in which the body ... Folate (folic acid) is needed for red blood cells to form and grow. You can get folate by eating green ...

  8. Cooley's Anemia Foundation

    MedlinePLUS

    Cooley's Anemia Foundation Leading the Fight against Thalassemia About Us Mission/Purpose History Medical Research Board/Staff Contact the Foundation U.S. Patients: Register for Information Learn about Thalassemia About Thalassemia Clinical ...

  9. Facts about Diamond Blackfan Anemia

    MedlinePLUS

    ... Form Controls NCBDDD Cancel Submit Search The CDC Diamond Blackfan Anemia (DBA) Note: Javascript is disabled or ... Español (Spanish) Recommend on Facebook Tweet Share Compartir Diamond Blackfan anemia (DBA) is a rare blood disorder ...

  10. How Is Hemolytic Anemia Treated?

    MedlinePLUS

    ... medicines rituximab and cyclosporine. If you have severe sickle cell anemia , your doctor may recommend a medicine called hydroxyurea. ... hemoglobin that newborns have. In people who have sickle cell anemia, fetal hemoglobin helps prevent red blood cells from ...

  11. Anemia and Oxygen Delivery.

    PubMed

    Bliss, Stuart

    2015-09-01

    Clinical assessment of tissue oxygenation is challenging. Anemia reflects a decreased oxygen carrying capacity of the blood and its significance in the perioperative setting relates largely to the associated risk of insufficient oxygen delivery and cellular hypoxia. Until meaningful clinical measures of tissue oxygenation are available in veterinary practice, clinicians must rely on evaluation of a patient's hemodynamic and ventilatory performance, along with biochemical and hemogasometric measurements. Blood transfusion is used commonly for treatment of perioperative anemia, and may improve tissue oxygenation by normalizing the rheologic properties of blood and enhancing perfusion, independent of increases in oxygen carrying capacity. PMID:26033442

  12. How Is Anemia Diagnosed?

    MedlinePLUS

    ... parts of your blood. The test checks your hemoglobin and hematocrit (hee-MAT-oh-crit) levels. Hemoglobin is the iron-rich protein in red blood ... up in your blood. A low level of hemoglobin or hematocrit is a sign of anemia. The ...

  13. Living with Anemia

    MedlinePLUS

    ... milk also are at risk for anemia. Cow's milk is low in the iron needed for growth. Most of the iron your child needs comes from food. Talk with your child's doctor about a healthy diet and good sources of iron, vitamins B12 and C, and folic acid (folate). Only give your child iron supplements if ...

  14. Sickle Cell Anemia Bibliography.

    ERIC Educational Resources Information Center

    Christy, Steven C.

    Presents sources for the acquisition of medical, social, psychological, educational, and practical knowledge of sickle cell anemia. The materials listed are designed to help parents, educators, and public service workers. Materials include journal articles, films, brochures, slides, and fact sheets. The usual bibliographic information is given.…

  15. Anemia and School Participation

    ERIC Educational Resources Information Center

    Bobonis, Gustavo J.; Miguel, Edward; Puri-Sharma, Charu

    2006-01-01

    Anemia is among the most widespread health problems for children in developing countries. This paper evaluates the impact of a randomized health intervention delivering iron supplementation and deworming drugs to Indian preschool children. At baseline, 69 percent were anemic and 30 percent had intestinal worm infections. Weight increased among…

  16. Anemia mexicana (Native) 3 

    E-print Network

    Robert W. Corbett

    2011-08-02

    Circulatory changes 4 Urinary porphyrin increases 9-17 Melanosis 6-20 Hyperkeratosis 6-20 Peripheral vascular alterations 12 Gangrene of the extremities 25-35 Hematology effects 40 Distal polyneuropathy 40 Anemia 50 Prominent peripheral neuropathy 300... and glucocorticoids. 21 A sampling of pharmaceuticals and compounds recognized to induce diabetes (and application) include: Vacor (rat poison), pentamidine (antimicrobial), nicotinic acid (vitamin b 3 ), glucocorticoids (steroid), thyroid hormone, diazoxide...

  17. Understanding anemia of chronic disease.

    PubMed

    Fraenkel, Paula G

    2015-12-01

    The anemia of chronic disease is an old disease concept, but contemporary research in the role of proinflammatory cytokines and iron biology has shed new light on the pathophysiology of the condition. Recent epidemiologic studies have connected the anemia of chronic disease with critical illness, obesity, aging, and kidney failure, as well as with the well-established associations of cancer, chronic infection, and autoimmune disease. Functional iron deficiency, mediated principally by the interaction of interleukin-6, the iron regulatory hormone hepcidin, and the iron exporter ferroportin, is a major contributor to the anemia of chronic disease. Although anemia is associated with adverse outcomes, experimental models suggest that iron sequestration is desirable in the setting of severe infection. Experimental therapeutic approaches targeting interleukin-6 or the ferroportin-hepcidin axis have shown efficacy in reversing anemia in either animal models or human patients, although these agents have not yet been approved for the treatment of the anemia of chronic disease. PMID:26637695

  18. Iron deficiency anemia in pregnancy.

    PubMed

    Di Renzo, Gian Carlo; Spano, Filippo; Giardina, Irene; Brillo, Eleonora; Clerici, Graziano; Roura, Luis Cabero

    2015-11-01

    Anemia is the most frequent derailment of physiology in the world throughout the life of a woman. It is a serious condition in countries that are industrialized and in countries with poor resources. The main purpose of this manuscript is to give the right concern of anemia in pregnancy. The most common causes of anemia are poor nutrition, iron deficiencies, micronutrients deficiencies including folic acid, vitamin A and vitamin B12, diseases like malaria, hookworm infestation and schistosomiasis, HIV infection and genetically inherited hemoglobinopathies such as thalassemia. Depending on the severity and duration of anemia and the stage of gestation, there could be different adverse effects including low birth weight and preterm delivery. Treatment of mild anemia prevents more severe forms of anemia, strictly associated with increased risk of fetal-maternal mortality and morbidity. PMID:26472066

  19. Congenital dyserythropoietic anemia.

    PubMed

    Kamiya, Takahiro; Manabe, Atsushi

    2010-10-01

    Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of rare hereditary disorders of erythropoiesis characterized by morphologic abnormal erythroblasts in the bone marrow. Three types of the disease are known as type I, II and III, and the variant type of CDA and several minor subgroups of CDA have been also reported since the first classification. Recently, responsible genes for type I (CDAN1) and type II (SEC23B) have been identified and the molecular pathogenesis of the disease is currently being explored. Although CDAs rarely transform to myelodysplastic syndrome or leukemia, the disease is important to understand the mechanism of hemopoiesis in humans. PMID:20820969

  20. Sickle Cell Anemia Jonathan Altamirano

    E-print Network

    Brutlag, Doug

    Sickle Cell Anemia Jonathan Altamirano Biochem 118 01/24/12 #12;Sickle Cell Disease - Summary sickle- low pH or O2 Homozygous Recessive Blood Cell Destruction Physical Weakness Anemia for quick screenings Peripheral blood smear Sickled cells and RBC easily seen Focus of these treatments

  1. Complement in hemolytic anemia.

    PubMed

    Brodsky, Robert A

    2015-11-26

    Complement is increasingly being recognized as an important driver of human disease, including many hemolytic anemias. Paroxysmal nocturnal hemoglobinuria (PNH) cells are susceptible to hemolysis because of a loss of the complement regulatory proteins CD59 and CD55. Patients with atypical hemolytic uremic syndrome (aHUS) develop a thrombotic microangiopathy (TMA) that in most cases is attributable to mutations that lead to activation of the alternative pathway of complement. For optimal therapy, it is critical, but often difficult, to distinguish aHUS from other TMAs, such as thrombotic thrombocytopenic purpura; however, novel bioassays are being developed. In cold agglutinin disease (CAD), immunoglobulin M autoantibodies fix complement on the surface of red cells, resulting in extravascular hemolysis by the reticuloendothelial system. Drugs that inhibit complement activation are increasingly being used to treat these diseases. This article discusses the pathophysiology, diagnosis, and therapy for PNH, aHUS, and CAD. PMID:26582375

  2. Anemia in Chronic Kidney Disease

    MedlinePLUS

    ... Kidney Foundation U.S. Food and Drug Administration MedlinePlus Kidney and Urologic Disease Organizations Many organizations provide support ... 345 KB)????? Alternate Language URL Anemia in Chronic Kidney Disease Page Content On this page: What is ...

  3. What Are the Signs and Symptoms of Anemia?

    MedlinePLUS

    ... Causes Who Is at Risk Signs & Symptoms Diagnosis Treatments Prevention Living With Clinical Trials Links Related Topics Aplastic Anemia Hemolytic Anemia Iron-Deficiency Anemia Pernicious Anemia Sickle Cell Disease Send a link to NHLBI to someone ...

  4. Classification of anemia for gastroenterologists

    PubMed Central

    Moreno Chulilla, Jose Antonio; Romero Colás, Maria Soledad; Gutiérrez Martín, Martín

    2009-01-01

    Most anemia is related to the digestive system by dietary deficiency, malabsorption, or chronic bleeding. We review the World Health Organization definition of anemia, its morphological classification (microcytic, macrocytic and normocytic) and pathogenic classification (regenerative and hypo regenerative), and integration of these classifications. Interpretation of laboratory tests is included, from the simplest (blood count, routine biochemistry) to the more specific (iron metabolism, vitamin B12, folic acid, reticulocytes, erythropoietin, bone marrow examination and Schilling test). In the text and various algorithms, we propose a hierarchical and logical way to reach a diagnosis as quickly as possible, by properly managing the medical interview, physical examination, appropriate laboratory tests, bone marrow examination, and other complementary tests. The prevalence is emphasized in all sections so that the gastroenterologist can direct the diagnosis to the most common diseases, although the tables also include rare diseases. Digestive diseases potentially causing anemia have been studied in preference, but other causes of anemia have been included in the text and tables. Primitive hematological diseases that cause anemia are only listed, but are not discussed in depth. The last section is dedicated to simplifying all items discussed above, using practical rules to guide diagnosis and medical care with the greatest economy of resources and time. PMID:19787825

  5. Anemia - Multiple Languages: MedlinePlus

    MedlinePLUS

    ... Supplements Videos & Tools You Are Here: Home ? Multiple Languages ? All Health Topics ? Anemia URL of this page: https://www.nlm.nih.gov/medlineplus/languages/anemia.html Other topics A-Z A B ...

  6. Drug-induced immune hemolytic anemia

    MedlinePLUS

    Immune hemolytic anemia secondary to drugs; Anemia - immune hemolytic - secondary to drugs ... In some cases, a drug can cause the immune system to mistake your own red blood cells for foreign substances. The body responds by making ...

  7. Diamond Blackfan Anemia, Genetics, and You

    MedlinePLUS

    Diamond Blackfan Anemia, Genetics, and You Q0 Is Diamond Blackfan Anemia (DBA) a genetic disorder? A Yes, ... A The body’s failure to make enough red blood cells has been linked to genetic mutations in ...

  8. Sickle Cell Anemia Diagnosis, Treatment, & Genetics

    E-print Network

    Brutlag, Doug

    Sickle Cell Anemia Diagnosis, Treatment, & Genetics Katarzyna Zabrocka BIOC118Q #12;Sickle Cell and Citrate Agar Electrophoresis- hemoglobin will migrate in specific patterns. Sickle Cell Anemia is only one%20cell %20anemia&rid=gnd.section.98 http://en.wikipedia.org/wiki/Sickle-cell_disease http

  9. Erythema nodosum and pernicious anemia.

    PubMed

    Milman, Perry J; Goldenberg, Steven P; Scheinfeld, Noah; Pereira, Frederick A

    2013-07-01

    Erythema nodosum (EN) often presents as a sudden onset of tender, erythematous, subcutaneous nodules on the legs and ankles. Although rare, pernicious anemia may be related to vitamin B12 deficiency. Discussion of this association in the context of a particular patient is presented. PMID:24010520

  10. [Neuropsychiatric manifestations ushering pernicious anemia].

    PubMed

    Mrabet, S; Ellouze, F; Ellini, S; Mrad, M F

    2015-12-01

    Biermer disease or pernicious anemia is an autoimmune atrophic gastritis characterized by the lack of secretion of gastric intrinsic factor. This leads to an insufficient absorption of vitamin B12 in the ileum. Clinical manifestations are mainly hematologic. Neuropsychiatric manifestations are known but are less frequent especially early in the disease. Inaugural neuropsychiatric arrays are rare and various thus making diagnosis difficult. In this article, we report through two clinical cases different neuropsychiatric manifestations revealing pernicious anemia. Mrs. C.O., aged 56, presented after surgery for gallstones, an acute psychiatric array associated with gait disorders. She had no history of neurological or psychiatric problems. The psychiatric interview revealed delirious syndrome, depressive symptoms and anxiety. Neurological examination noted a flaccid paraplegia with peripheral neuropathic syndrome and myoclonus in the upper limbs. At the full blood count, a macrocytosis (VGM: 112.2fl) without anemia was found. The level of vitamin B12 in the blood was low. Cerebro-spinal MRI was suggestive of a neuro-Biermer and showed hypersignal in the cervical cord on T2-weighted sagittal section. In axial section, hypersignal appears at the posterior columns in the form of V. There were no brain abnormalities. A sensorimotor axonal polyneuropathy was diagnosed. The patient received vitamin B12 intramuscularly for ten days associated with neuroleptic treatment. Mrs. R.M., aged 40, was brought to the psychiatry consultation for acute behavioral disorders progressively worsening over a month. An anxiety syndrome, depressive syndrome and delirious syndrome were identified. Neurological examination showed a posterior cordonal syndrome with quadripyramidal syndrome. Full blood count showed a macrocytic anemia. Serum B12 level was collapsed. Cerebro-spinal MRI was normal. She received vitamin B12 with clinical and biological improvement. Features of pernicious anemia vary according to studies and age range. Digestive and hematological manifestations are well known. Neurological and psychiatric manifestations of pernicious anemia were also described in the early literature. They can be the initial symptoms or the only ones. However, inaugural neuropsychiatric features are often unrecognized. The most common psychiatric symptoms were depression, mania, psychotic symptoms, cognitive impairment and obsessive compulsive disorder. Neurological involvement includes mainly combined spinal sclerosis, peripheral neuropathy and dementia. Cerebellar ataxia and movement disorders are reported less often. Severity of neuropsychiatric features and therapeutic efficacy depends on the duration of signs and level of B12 deficiency. Macrocytic anemia may lack. Neuropsychiatric manifestations could be isolated or be the first manifestation of vitamin deficiency and occur without any hematological or gastrointestinal context. Pernicious anemia and serum B12 assay should be discussed in all patients with organic mental disorders, atypical psychiatric symptoms and fluctuation of symptomatology. Nevertheless, B12 level could be normal in genuine pernicious anemia diseases and macrocytic anemia may lack. Substitutive vitaminotherapy is required when diagnosis is strongly suspected and etiologic assessment is negative. PMID:26345354

  11. [Hemolytic anemias and vitamin B12 deficieny].

    PubMed

    Dietzfelbinger, Hermann; Hubmann, Max

    2015-08-01

    Hemolytic anemias consist of corpuscular, immun-hemolytic and toxic hemolytic anemias. Within the group of corpuscular hemolytic anemias, except for the paroxysmal nocturnal hemoglobinuria (PNH), all symptoms are caused by underlying heredetiary disorders within the red blood cell membran (hereditary spherocytosis), deficiencies of red cell enzymes (G6PDH- and pyrovatkinase deficiency) or disorders in the hemoglobin molecule (thalassaemia and sickle cell disease). Immune-hemolytic anemias are acquired hemolytic anemias and hemolysis is caused by auto- or allo-antibodies which are directed against red blood cell antigens. They are classified as warm, cold, mixed type or drug-induced hemolytic anemia. Therapy consists of glucocorticoids and other immunsuppressive drugs. Pernicious anemia is the most important vitamin B12 deficiency disorder. Diagnosis relies on cobalamin deficiency and antibodies to intrinsic factor. The management should focus on a possibly life-long replacement treatment with cobalamin. PMID:26306021

  12. Megaloblastic anemia: back in focus.

    PubMed

    Chandra, Jagdish

    2010-07-01

    Megaloblastic anemia (MA), in most instances in developing countries, results from deficiency of vitamin B(12) or folic acid. Over the last two to three decades, incidence of MA seems to be increasing. Of the two micronutrients, folic acid deficiency contributed to MA in a large majority of cases. Now deficiency of B(12) is far more common. In addition to anemia, occurrence of neutropenia and/or thrombocytopenia is increasingly being reported. Among cases presenting with pancytopenia, MA stands out as an important (commonest cause in some series) cause. This article focuses on these and certain other aspects of MA. Possible causes of increasing incidence of MA are discussed. Observations on other clinical features like neurocognitive dysfunction, associated hyperhomocysteinemeia and occurrence of tremors and thrombocytosis during treatment are highlighted. PMID:20589460

  13. Severe Aplastic Anemia Associated With Eosinophilic Fasciitis

    PubMed Central

    de Masson, Adèle; de Latour, Régis Peffault; Benhamou, Ygal; Moluçon-Chabrot, Cécile; Bay, Jacques-Olivier; Laquerrière, Annie; Picquenot, Jean-Michel; Michonneau, David; Leguy-Seguin, Vanessa; Rybojad, Michel; Bonnotte, Bernard; Jardin, Fabrice; Lévesque, Hervé; Bagot, Martine; Socié, Gérard

    2013-01-01

    Abstract Diffuse eosinophilic fasciitis (Shulman disease) is a rare sclerodermiform syndrome that, in most cases, resolves spontaneously or after corticosteroid therapy. It has been associated with hematologic disorders, such as aplastic anemia. The clinical features and long-term outcomes of patients with eosinophilic fasciitis and associated aplastic anemia have been poorly described. We report the cases of 4 patients with eosinophilic fasciitis and associated severe aplastic anemia. For 3 of these patients, aplastic anemia was refractory to conventional immunosuppressive therapy with antithymocyte globulin and cyclosporine. One of the patients received rituximab as a second-line therapy with significant efficacy for both the skin and hematologic symptoms. To our knowledge, this report is the first to describe rituximab used to treat eosinophilic fasciitis with associated aplastic anemia. In a literature review, we identified 19 additional cases of eosinophilic fasciitis and aplastic anemia. Compared to patients with isolated eosinophilic fasciitis, patients with eosinophilic fasciitis and associated aplastic anemia were more likely to be men (70%) and older (mean age, 56 yr; range, 18–71 yr). Corticosteroid-containing regimens improved skin symptoms in 5 (42%) of 12 cases but were ineffective in the treatment of associated aplastic anemia in all but 1 case. Aplastic anemia was profound in 13 cases (57%) and was the cause of death in 8 cases (35%). Only 5 patients (22%) achieved long-term remission (allogeneic hematopoietic stem cell transplantation: n = 2; cyclosporine-containing regimen: n = 2; high-dose corticosteroid-based regimen: n = 1). PMID:23429351

  14. SICKLE CELL ANEMIA Genetics, Symptoms, Diagnosis, and Treatments

    E-print Network

    Brutlag, Doug

    SICKLE CELL ANEMIA Genetics, Symptoms, Diagnosis, and Treatments Iris Jovel Biochemistry 118Q #12;THE DISEASE: SICKLE CELL ANEMIA (SCA) Most common inherited blood, sickle shape #12;IMPLICATIONS OF SICKLE CELL ANEMIA Misshapen and rigid RBC fail

  15. Genetics Home Reference: Iron-refractory iron deficiency anemia

    MedlinePLUS

    ... iron-refractory iron deficiency anemia? anemia ; autosomal ; autosomal recessive ; cell ; deficiency ; gene ; hemoglobin ; hereditary ; hypochromic ; inherited ; iron ; metabolism ; molecule ; oxygen ; ...

  16. Aplastica Anemia And Viral Hepatitis

    PubMed Central

    Cudillo, Laura

    2009-01-01

    Acquired aplastic anemia (aAA) is a severe and rare disease, characterized by hematopoietic bone marrow failure and peripheral cytopenia. The pathophysiology is immune mediated in most cases, activated T1 lymphocytes have been identified as effector cells. The disease can be successfully treated with combined immunosuppressive therapy or allogeneic hematopoietic stem cell transplantation. Hepatitis-associated aplastic anemia (HAA) is a syndrome of bone marrow failure following the development of acute seronegative hepatitis. HAA syndrome most often affects young males who presented severe pancytopenia two to three months after an episode of acute hepatitis. The clinical course of hepatitis is more frequently benign but a fulminant severe course is also described. The bone marrow failure can be explosive and severe and it is usually fatal if untreated, no correlations have been observed between severity of hepatitis and AA. In none of the studies a specific virus could be identified and most cases are seronegative for known hepatitis viruses. The clinical characteristics and response to immunotherapy indicate a central role for immune-mediated mechanism in the pathogenesis of HAA. The initial target organ of the immune response is the liver as suggested by the time interval between hepatitis and the onset of bone marrow failure. Liver histology is characterized by T cell infiltrating the parenchyma as reported in acute hepatitis. Recently in HAA it has been demonstrated intrahepatic and blood lymphocytes with T cell repertoire similar to that of confirmed viral acute hepatitis. The expanded T cell clones return to a normal distribution after response to immunosuppressive treatment, suggesting the antigen or T cell clearance. Therapeutic options are the same as acquired aplastic anemia. PMID:21415960

  17. Case 40. Misdiagnosis of refractory macrocytic anemia.

    PubMed

    Stringaris, Kate; Bain, Barbara

    2008-11-01

    A diagnosis of myelodysplastic syndrome, refractory anemia subtype, was made in an elderly Indian woman on the basis of a refractory macrocytic anemia with normal vitamin B(12) and folate assays, normal thyroid function, essentially normal liver function and normal cytogenetic analysis. Disease evolution revealed that the diagnosis was erroneous. PMID:19021064

  18. The Student with Sickle Cell Anemia.

    ERIC Educational Resources Information Center

    Tetrault, Sylvia M.

    1981-01-01

    Sickle cell anemia is the most common and severe of inherited chronic blood disorders. In the United States, sickle cell anemia is most common among the Black population. Among the most commonly occurring symptoms are: an enlarged spleen, episodes of severe pain, easily contracted infections, skin ulcers, and frequent urination. (JN)

  19. 9 CFR 311.34 - Anemia.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Anemia. 311.34 Section 311.34 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE AGENCY ORGANIZATION... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.34 Anemia. Carcasses...

  20. 9 CFR 311.34 - Anemia.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 9 Animals and Animal Products 2 2011-01-01 2011-01-01 false Anemia. 311.34 Section 311.34 Animals and Animal Products FOOD SAFETY AND INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE AGENCY ORGANIZATION... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.34 Anemia. Carcasses...

  1. Genetics Home Reference: Diamond-Blackfan anemia

    MedlinePLUS

    ... function of bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone marrow malfunctions and fails ... of developing certain cancers, including a cancer of blood-forming tissue known ... with Diamond-Blackfan anemia have physical abnormalities. They may have ...

  2. Treatment of autoimmune hemolytic anemias

    PubMed Central

    Zanella, Alberto; Barcellini, Wilma

    2014-01-01

    Autoimmune hemolytic anemia (AIHA) is a relatively uncommon disorder caused by autoantibodies directed against self red blood cells. It can be idiopathic or secondary, and classified as warm, cold (cold hemagglutinin disease (CAD) and paroxysmal cold hemoglobinuria) or mixed, according to the thermal range of the autoantibody. AIHA may develop gradually, or have a fulminant onset with life-threatening anemia. The treatment of AIHA is still not evidence-based. The first-line therapy for warm AIHA are corticosteroids, which are effective in 70–85% of patients and should be slowly tapered over a time period of 6–12 months. For refractory/relapsed cases, the current sequence of second-line therapy is splenectomy (effective approx. in 2 out of 3 cases but with a presumed cure rate of up to 20%), rituximab (effective in approx. 80–90% of cases), and thereafter any of the immunosuppressive drugs (azathioprine, cyclophosphamide, cyclosporin, mycophenolate mofetil). Additional therapies are intravenous immunoglobulins, danazol, plasma-exchange, and alemtuzumab and high-dose cyclophosphamide as last resort option. As the experience with rituximab evolves, it is likely that this drug will be located at an earlier point in therapy of warm AIHA, before more toxic immunosuppressants, and in place of splenectomy in some cases. In CAD, rituximab is now recommended as first-line treatment. PMID:25271314

  3. Runner's anemia and iron deficiency.

    PubMed

    Hunding, A; Jordal, R; Paulev, P E

    1981-01-01

    Systemic iron deficiency was found in 63 (56%) of 113 joggers and competition runners (33 women and 80 men). Thirteen women and ten men had latent anemia. A majority of the women were fertile with iron loss from menstruation; the men were runners training long distances. The average transferrin iron-binding capacity was 80 mu mol/l serum in the women and 77 (iron-binding groups) in the men. The haptoglobin and iron concentrations in serum were remarkably low (most often below 10 and 20 mu mol/l, respectively). Three of the long-distance runners ran 25 km daily. They returned with so much free hemoglobin in their plasma that an accompanying iron loss (integrated over months), if not balanced by diet, would lead to iron deficiency and anemia. Oral iron therapy (200 mg ferrous sulphate per day) normalized the hemoglobin concentration and improved the transferrin saturation fraction in 61 persons. The competition runners reported personal records. PMID:7234508

  4. Treatment of autoimmune hemolytic anemia.

    PubMed

    King, Karen E; Ness, Paul M

    2005-07-01

    The appropriate therapy of autoimmune hemolytic anemia (AIHA) is dependent on the correct diagnosis and classification of this family of hemolytic disorders. Although the majority of cases are warm AIHA, there are several distinct types of cold AIHA and a number of drug-induced etiologies of AIHA, which must be investigated to determine if stopping a drug will induce a remission. In warm AIHA, corticosteroids are standard, followed by consideration of splenectomy in recalcitrant cases. If steroids and splenectomy are insufficient, other forms of immunosuppressive therapy are typically initiated. In cold AIHA, keeping the patient warm in often sufficient, but therapy directed at an underlying lympholiferative disorder may be helpful. Brisk hemolysis, inadequate responses to therapy, and worsening anemia require transfusion therapy. Although the pretransfusion workup is made difficult by the presence of the autoantibody, transfusion services can usually provide blood safe for transfusion by excluding underlying alloantibodies. When transfusion is urgently required and compatible blood cannot be located, incompatible blood may be provided as a life-saving measure. Communication between the transfusion service and the hematologist is critical to assess the risks in these settings. Hemoglobin-based oxygen carriers may provide an important bridging therapy in the future. Requests for "least incompatible" blood do not enhance transfusion safety and often result in unnecessary delays. PMID:16041662

  5. Treatment of autoimmune hemolytic anemias.

    PubMed

    Zanella, Alberto; Barcellini, Wilma

    2014-10-01

    Autoimmune hemolytic anemia (AIHA) is a relatively uncommon disorder caused by autoantibodies directed against self red blood cells. It can be idiopathic or secondary, and classified as warm, cold (cold hemagglutinin disease (CAD) and paroxysmal cold hemoglobinuria) or mixed, according to the thermal range of the autoantibody. AIHA may develop gradually, or have a fulminant onset with life-threatening anemia. The treatment of AIHA is still not evidence-based. The first-line therapy for warm AIHA are corticosteroids, which are effective in 70-85% of patients and should be slowly tapered over a time period of 6-12 months. For refractory/relapsed cases, the current sequence of second-line therapy is splenectomy (effective approx. in 2 out of 3 cases but with a presumed cure rate of up to 20%), rituximab (effective in approx. 80-90% of cases), and thereafter any of the immunosuppressive drugs (azathioprine, cyclophosphamide, cyclosporin, mycophenolate mofetil). Additional therapies are intravenous immunoglobulins, danazol, plasma-exchange, and alemtuzumab and high-dose cyclophosphamide as last resort option. As the experience with rituximab evolves, it is likely that this drug will be located at an earlier point in therapy of warm AIHA, before more toxic immunosuppressants, and in place of splenectomy in some cases. In CAD, rituximab is now recommended as first-line treatment. PMID:25271314

  6. Anemia

    MedlinePLUS

    ... body gets more iron than it needs? Iron overload happens when too much iron builds up in ... heart, and pancreas. Many problems can cause iron overload. Most people with hemochromatosis inherit it from their ...

  7. Anemia

    MedlinePLUS

    ... have enough hemoglobin. The body needs certain vitamins, minerals, and nutrients to make enough red blood cells. ... vitamin B12, folic acid, and other vitamins and minerals Red blood count and hemoglobin level Reticulocyte count ...

  8. Anemia

    MedlinePLUS

    ... Career Development Division of Intramural Research Research Resources Research Meeting Summaries Technology Transfer Clinical Trials What Are Clinical Trials? Children & Clinical Studies NHLBI Trials Clinical Trial Websites News & Resources Press Releases Spotlight On Research NHLBI ...

  9. Anemia

    MedlinePLUS

    ... include those with high levels of iron (beef, dark green leafy vegetables, dried fruits, andnuts),vitamin B- ... meat and dairy), and folic acid (citrus juices, dark green leafy vegetables, legumes, and fortified cereals). A ...

  10. [Anemia and erythropoietin in critically ill patients].

    PubMed

    Baginski, S; Körner, R; Frei, U; Eckardt, K-U

    2003-06-01

    The transfusion of red blood cells is still associated with possible adverse effects and a residual risk of transmission of viral and nonviral diseases. In addition, there is an increasing shortage of blood supply worldwide. These two facts together with the success experienced in the treatment of various types of anemia with recombinant human EPO, have recently led to an increasing interest in the anemia of critically ill patients. As in the anemia of chronic diseases there are several reasons that contribute to the development of anemia in patients on intensive care units: pre-existing anemia, blood loss, reduced red cell life span, impaired iron availability and a direct inhibition of erythropoiesis by inflammatory cytokines. The implications of anemia for the progression and prognosis of critical illness are still unclear and the optimal treatment, including optimal "transfusion triggers" remains controversial. Recombinant human EPO has been proven to be effective in ameliorating the anemia of critical illness in several pilot studies and is currently being tested in larger trials. PMID:12865954

  11. Relationship of maternal knowledge of anemia with maternal and child anemia and health-related behaviors targeted at anemia among families in Indonesia.

    PubMed

    Souganidis, Ellie S; Sun, Kai; de Pee, Saskia; Kraemer, Klaus; Rah, Jee-Hyun; Moench-Pfanner, Regina; Sari, Mayang; Bloem, Martin W; Semba, Richard D

    2012-12-01

    Our specific aim was to characterize maternal knowledge of anemia and its relationship to maternal and child anemia and to behaviors related to anemia reduction. We examined the relationship between maternal knowledge of anemia and anemia in the mother and the youngest child, aged 6-59 months, in 7,913 families from urban slums and 37,874 families from rural areas of Indonesia. Knowledge of anemia was defined based upon the mother's ability to correctly name at least one symptom of anemia and at least one treatment or strategy for reducing anemia. Hemoglobin was measured in both the mother and the child. In urban and rural areas, respectively, 35.8 and 36.9% of mothers had knowledge of anemia, 28.7 and 25.1% of mothers were anemic (hemoglobin <12 g/dL), and 62.3 and 54.0% of children were anemic (hemoglobin <11 g/dL). Maternal knowledge of anemia was associated with child anemia in urban and rural areas, respectively (odds ratio [OR] 0.90, 95% confidence interval [CI] 0.79, 1.02, P = 0.10; OR 0.93, 95% CI 0.87, 0.98, P = 0.01) in multivariate logistic regression models adjusting for potential confounders. There was no significant association between maternal knowledge of anemia and maternal anemia. Maternal knowledge of anemia was significantly associated with iron supplementation during pregnancy and child consumption of fortified milk. There was no association of maternal knowledge of anemia with child deworming. Maternal knowledge of anemia is associated with lower odds of anemia in children and with some health behaviors related to reducing anemia. PMID:22241619

  12. Inborn anemias in mice: (Annual report, 1981-1982)

    SciTech Connect

    Bernstein, S.E.

    1982-07-19

    Hereditary anemias of mice are the chief objects of investigation, specificially four macrocytic anemias, 3 types of hemolytic anemia, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, the autoimmune hemolytic anemia of NZB mice, an ..cap alpha..-thalassemia and a new hypochromic anemia with hemochromatosis. New types of anemia may be analyzed as new mutations appear. Three new mutations have been identified during the past 18 months. These anemias are studied through characterization of peripheral blood values, determinations of radiosensitivity under a variety of conditions, measurements of iron metabolism and heme synthesis, study of normal and abnormal erythrocyte membrane proteins, histological and biochemical characterization of blood-forming tissue, functional tests of the stem-cell component, examination of responses to erythroid stimuli, and transplantation of tissue and parabiosis between individuals of differently affected genotypes. 31 refs.

  13. [Hemolytic anemia under erlotinib treatment].

    PubMed

    Sakhri, L; Mennecier, B; Quoix, A

    2013-12-01

    Erlotinib is a tyrosine kinase inhibitor widely prescribed of which the most common sides effects are grade I or II rash and diarrhea. We report two cases of hemolytic anemia (HA) induced by erlotinib. Our two patients were treated with erlotinib after a prior line of systemic platinum-doublet therapy for metastatic non-small cell lung cancer. Both patients presented, shortly after starting treatment with erlotinib, an HA which was fatal for one of them. To our knowledge, this major side effect of erlotinib has not been reported in the literature. We will try through this article to make a literature review of the most important side effects of erlotinib and we will also focus on the HA induced by other molecules used in oncology. PMID:24183296

  14. Immune-mediated hemolytic anemia.

    PubMed

    Rosse, Wendell F; Hillmen, Peter; Schreiber, Alan D

    2004-01-01

    Hemolytic anemia due to immune function is one of the major causes of acquired hemolytic anemia. In recent years, as more is known about the immune system, these entities have become better understood and their treatment improved. In this section, we will discuss three areas in which this progress has been apparent. In Section I, Dr. Peter Hillmen outlines the recent findings in the pathogenesis of paroxysmal nocturnal hemoglobinuria (PNH), relating the biochemical defect (the lack of glycosylphosphatidylinositol [GPI]-linked proteins on the cell surface) to the clinical manifestations, particularly hemolysis (and its effects) and thrombosis. He discusses the pathogenesis of the disorder in the face of marrow dysfunction insofar as it is known. His major emphasis is on innovative therapies that are designed to decrease the effectiveness of complement activation, since the lack of cellular modulation of this system is the primary cause of the pathology of the disease. He recounts his considerable experience with a humanized monoclonal antibody against C5, which has a remarkable effect in controlling the manifestations of the disease. Other means of controlling the action of complement include replacing the missing modulatory proteins on the cell surface; these studies are not as developed as the former agent. In Section II, Dr. Alan Schreiber describes the biochemistry, genetics, and function of the Fc gamma receptors and their role in the pathobiology of autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura due to IgG antibodies. He outlines the complex varieties of these molecules, showing how they vary in genetic origin and in function. These variations can be related to three-dimensional topography, which is known in some detail. Liganding IgG results in the transduction of a signal through the tyrosine-based activation motif and Syk signaling. The role of these receptors in the pathogenesis of hematological diseases due to IgG antibodies is outlined and the potential of therapy of these diseases by regulation of these receptors is discussed. In Section III, Dr. Wendell Rosse discusses the forms of autoimmune hemolytic anemia characterized by antibodies that react preferentially in the cold-cold agglutinin disease and paroxysmal cold hemoglobinuria (PCH). The former is due to IgM antibodies with a common but particular structure that reacts primarily with carbohydrate or carbohydrate-containing antigens, an interaction that is diminished at body temperature. PCH is a less common but probably underdiagnosed illness due to an IgG antibody reacting with a carbohydrate antigen; improved techniques for the diagnosis of PCH are described. Therapy for the two disorders differs somewhat because of the differences in isotype of the antibody. Since the hemolysis in both is primarily due to complement activation, the potential role of its control, as by the monoclonal antibody described by Dr. Hillmen, is discussed. PMID:15561676

  15. TNF-? signaling in Fanconi anemia

    PubMed Central

    Du, Wei; Erden, Ozlem; Pang, Qishen

    2013-01-01

    Tumor necrosis factor-alpha (TNF-? is a major pro-inflammatory cytokine involved in systemic inflammation and the acute phase reaction. Dysregulation of TNF production has been implicated in a variety of human diseases including Fanconi anemia (FA). FA is a genomic instability syndrome characterized by progressive bone marrow failure and cancer susceptibility. The patients with FA are often found overproducing TNF-?, which may directly affect hematopoietic stem cell (HSC) function by impairing HSC survival, homing and proliferation, or indirectly change the bone marrow microenvironment critical for HSC homeostasis and function, therefore contribute to disease progression in FA. In this brief review, we discuss the link between TNF-? signaling and FA pathway with emphasis on the implication of inflammation in the pathophysiology and abnormal hematopoiesis in FA. PMID:23890415

  16. The Clinical Pictures of Autoimmune Hemolytic Anemia

    PubMed Central

    Packman, Charles H.

    2015-01-01

    Summary Autoimmune hemolytic anemia is characterized by shortened red blood cell survival and a positive Coombs test. The responsible autoantibodies may be either warm reactive or cold reactive. The rate of hemolysis and the severity of the anemia may vary from mild to severe and life-threatening. Diagnosis is made in the laboratory by the findings of anemia, reticulocytosis, a positive Coombs test, and specific serologic tests. The prognosis is generally good but renal failure and death sometimes occur, especially in cases mediated by drugs.

  17. Protrusio acetabuli in sickle-cell anemia

    SciTech Connect

    Martinez, S.; Apple, J.S.; Baber, C.; Putman, C.E.; Rosse, W.F.

    1984-04-01

    Of 155 adults with sickle-cell anemia (SS, SC), radiographs of the pelvis or hip demonstrated protrusio acetabuli on at least one side in 14 (3 men and 11 women), as indicated by projection of the acetabular line medial to the ilio-ischial line. All 14 patients had bone changes attributable to sickle-cell anemia, including marrow hyperplasia and osteonecrosis; however, the severity of femoral or acetabular osteonecrosis did not appear directly related to the protrusion. The authors conclude that sickle-cell anemia can predispose to development of protrusio acetabuli.

  18. Role of Complement in Autoimmune Hemolytic Anemia

    PubMed Central

    Berentsen, Sigbjørn

    2015-01-01

    Summary The classification of autoimmune hemolytic anemias and the complement system are reviewed. In autoimmune hemolytic anemia of the warm antibody type, complement-mediated cell lysis is clinically relevant in a proportion of the patients but is hardly essential for hemolysis in most patients. Cold antibody-mediated autoimmune hemolytic anemias (primary cold agglutinin disease, secondary cold agglutinin syndrome and paroxysmal cold hemoglobinuria) are entirely complement-mediated disorders. In cold agglutinin disease, efficient therapies have been developed in order to target the pathogenic B-cell clone, but complement modulation remains promising in some clinical situations. No established therapy exists for secondary cold agglutinin syndrome and paroxysmal cold hemoglobinuria, and the possibility of therapeutic complement inhibition is interesting. Currently, complement modulation is not clinically documented in any autoimmune hemolytic anemia. The most relevant candidate drugs and possible target levels of action are discussed. PMID:26696798

  19. Special Issues for People with Aplastic Anemia

    MedlinePLUS

    ... than for healthy people. Here are some examples. Airplane Travel and High Altitudes The farther you get ... If you have aplastic anemia, flying in an airplane or going up high in the mountains may ...

  20. Darbepoetin alfa for anemia with myelodysplastic syndrome.

    PubMed

    Seastone, David J; Gerds, Aaron T

    2015-04-01

    The myelodysplastic syndromes are characterized by refractory cytopenias that lead to symptomatic anemia, bleeding, and increased risk for infections. For almost two decades, the use of darbepoetin and other erythropoietin stimulating agents to treat symptomatic anemia in lower-risk myelodysplastic syndromes has been a standard of care. This practice is supported by numerous Phase I/II studies and one Phase III study demonstrating the benefit of using erythropoietin stimulating agents alone, or in combination with granulocyte colony stimulating factor, for treatment of symptomatic anemia with the goal of decreasing red blood cell transfusion requirements. This review summarizes the published experience regarding the use of erythropoietin stimulating agents, with a special focus on darbepoetin, in patients with myelodysplastic syndrome and symptomatic anemia. PMID:25579702

  1. Avoiding Anemia: Boost Your Red Blood Cells

    MedlinePLUS

    ... exit disclaimer . Subscribe Avoiding Anemia Boost Your Red Blood Cells If you’re feeling constantly exhausted and sluggish, ... your body doesn’t have enough healthy red blood cells. You may either have too few red blood ...

  2. Anemia: Progress in molecular mechanisms and therapy

    PubMed Central

    Sankaran, Vijay G.; Weiss, Mitchell J.

    2015-01-01

    Anemia is a major source of morbidity and mortality worldwide. Here we review recent insights into how red blood cells (RBCs) are produced, the pathogenic mechanisms underlying various forms of anemia, and novel therapies derived from these findings. It is likely that these new insights, mainly arising from basic scientific studies, will contribute immensely to understanding frequently debilitating forms of anemia and the ability to treat affected patients. Major worldwide diseases that may stand to benefit from the new advances include the hemoglobinopathies (?-thalassemia and sickle cell disease), rare genetic disorders of red blood cell production, and anemias associated with chronic kidney disease, inflammation, and cancer. Promising new treatment approaches include drugs that target recently defined pathways in red blood cell production, iron metabolism, and fetal globin gene expression, as well as gene therapies using improved viral vectors and newly developed genome editing technologies. PMID:25742458

  3. Anemia caused by low iron - children

    MedlinePLUS

    Anemia - iron deficiency - children ... able to absorb iron well, even though the child is eating enough iron Slow blood loss over ... bleeding in the digestive tract Iron deficiency in children can also be related to lead poisoning .

  4. Iron deficiency anemia in celiac disease

    PubMed Central

    Freeman, Hugh James

    2015-01-01

    Iron is an important micronutrient that may be depleted in celiac disease. Iron deficiency and anemia may complicate well-established celiac disease, but may also be the presenting clinical feature in the absence of diarrhea or weight loss. If iron deficiency anemia occurs, it should be thoroughly evaluated, even if celiac disease has been defined since other superimposed causes of iron deficiency anemia may be present. Most often, impaired duodenal mucosal uptake of iron is evident since surface absorptive area in the duodenum is reduced, in large part, because celiac disease is an immune-mediated disorder largely focused in the proximal small intestinal mucosa. Some studies have also suggested that blood loss may occur in celiac disease, sometimes from superimposed small intestinal disorders, including ulceration or neoplastic diseases, particularly lymphoma. In addition, other associated gastric or colonic disorders may be responsible for blood loss. Rarely, an immune-mediated hemolytic disorder with increased urine iron loss may occur that may respond to a gluten-free diet. Reduced expression of different regulatory proteins critical in iron uptake has also been defined in the presence and absence of anemia. Finally, other rare causes of microcytic anemia may occur in celiac disease, including a sideroblastic form of anemia reported to have responded to a gluten-free diet. PMID:26309349

  5. Mutated Fanconi anemia pathway in non-Fanconi anemia cancers

    PubMed Central

    Shen, Yihang; Lee, Yuan-Hao; Panneerselvam, Jayabal; Zhang, Jun; Loo, Lenora W. M.; Fei, Peiwen

    2015-01-01

    An extremely high cancer incidence and the hypersensitivity to DNA crosslinking agents associated with Fanconi Anemia (FA) have marked it to be a unique genetic model system to study human cancer etiology and treatment, which has emerged an intense area of investigation in cancer research. However, there is limited information about the relationship between the mutated FA pathway and the cancer development or/and treatment in patients without FA. Here we analyzed the mutation rates of the seventeen FA genes in 68 DNA sequence datasets. We found that the FA pathway is frequently mutated across a variety of human cancers, with a rate mostly in the range of 15 to 35 % in human lung, brain, bladder, ovarian, breast cancers, or others. Furthermore, we found a statistically significant correlation (p < 0.05) between the mutated FA pathway and the development of human bladder cancer that we only further analyzed. Together, our study demonstrates a previously unknown fact that the mutated FA pathway frequently occurs during the development of non-FA human cancers, holding profound implications directly in advancing our understanding of human tumorigenesis as well as tumor sensitivity/resistance to crosslinking drug-relevant chemotherapy. PMID:26015400

  6. Anemia, tumor hypoxemia, and the cancer patient

    SciTech Connect

    Varlotto, John . E-mail: jvarlott@bidmc.harvard.edu; Stevenson, Mary Ann

    2005-09-01

    Purpose: To review the impact of anemia/tumor hypoxemia on the quality of life and survival in cancer patients, and to assess the problems associated with the correction of this difficulty. Methods: MEDLINE searches were performed to find relevant literature regarding anemia and/or tumor hypoxia in cancer patients. Articles were evaluated in order to assess the epidemiology, adverse patient effects, anemia correction guidelines, and mechanisms of hypoxia-induced cancer cell growth and/or therapeutic resistance. Past and current clinical studies of radiosensitization via tumor oxygenation/hypoxic cell sensitization were reviewed. All clinical studies using multi-variate analysis were analyzed to show whether or not anemia and/or tumor hypoxemia affected tumor control and patient survival. Articles dealing with the correction of anemia via transfusion and/or erythropoietin were reviewed in order to show the impact of the rectification on the quality of life and survival of cancer patients. Results: Approximately 40-64% of patients presenting for cancer therapy are anemic. The rate of anemia rises with the use of chemotherapy, radiotherapy, and hormonal therapy for prostate cancer. Anemia is associated with reductions both in quality of life and survival. Tumor hypoxemia has been hypothesized to lead to tumor growth and resistance to therapy because it leads to angiogenesis, genetic mutations, resistance to apoptosis, and a resistance to free radicals from chemotherapy and radiotherapy. Nineteen clinical studies of anemia and eight clinical studies of tumor hypoxemia were found that used multi-variate analysis to determine the effect of these conditions on the local control and/or survival of cancer patients. Despite differing definitions of anemia and hypoxemia, all studies have shown a correlation between low hemoglobin levels and/or higher amounts of tumor hypoxia with poorer prognosis. Radiosensitization through improvements in tumor oxygenation/hypoxic cell sensitization has met with limited success via the use of hyperbaric oxygen, electron-affinic radiosensitizers, and mitomycin. Improvements in tumor oxygenation via the use of carbogen and nicotinamide, RSR13, and tirapazamine have shown promising clinical results and are all currently being tested in Phase III trials. The National Comprehensive Cancer Network (NCCN) guidelines recommend transfusion or erythropoietin for symptomatic patients with a hemoglobin of 10-11 g/dl and state that erythropoietin should strongly be considered if hemoglobin falls to less than 10 g/dl. These recommendations were based on studies that revealed an improvement in the quality of life of cancer patients, but not patient survival with anemia correction. Phase III studies evaluating the correction of anemia via erythropoietin have shown mixed results with some studies reporting a decrease in patient survival despite an improvement in hemoglobin levels. Diverse functions of erythropoietin are reviewed, including its potential to inhibit apoptosis via the JAK2/STAT5/BCL-X pathway. Correction of anemia by the use of blood transfusions has also shown a decrement in patient survival, possibly through inflammatory and/or immunosuppressive pathways. Conclusions: Anemia is a prevalent condition associated with cancer and its therapies. Proper Phase III trials are necessary to find the best way to correct anemia for specific patients. Future studies of erythropoietin must evaluate the possible anti-apoptotic effects by directly assessing the tumor for erythropoietin receptors or the presence of the JAK2/STAT5/BCL-X pathway. Due to the ability of transfusions to cause immunosuppression, most probably through inflammatory pathways, it may be best to study the effects of transfusion with the prolonged use of anti-inflammatory medications.

  7. Pathogenesis and pathophysiology of anemia in HIV infection.

    PubMed

    Bain, B J

    1999-03-01

    Anemia is common in human immunodeficiency virus infection, particularly in patients with acquired immunodeficiency syndrome. Anemia is multifactorial. HIV infection itself causes anemia, probably as a consequence of HIV infection of stromal cells rather than HIV infection of hematopoietic stem cells. Other common causes of anemia in AIDS are anemia of chronic disease consequent on opportunistic infections, bone marrow suppression by antiretroviral therapy, and hemolytic anemia induced by oxidant drugs. Thrombotic microangiopathy is a significant complication of HIV infection and may respond to plasmapheresis. PMID:10088638

  8. Frequency of anemia in chronic psychiatry patients

    PubMed Central

    Korkmaz, Sevda; Y?ld?z, Sevler; Korucu, Tuba; Gundogan, Burcu; Sunbul, Zehra Emine; Korkmaz, Hasan; Atmaca, Murad

    2015-01-01

    Purpose Anemia could cause psychiatric symptoms such as cognitive function disorders and depression or could deteriorate an existing psychiatric condition when it is untreated. The objective of this study is to scrutinize the frequency of anemia in chronic psychiatric patients and the clinical and sociodemographic factors that could affect this frequency. Methods All inpatients in our clinic who satisfied the study criteria and received treatment between April 2014 and April 2015 were included in this cross-sectional study. Sociodemographic data for 378 patients included in the study and hemoglobin (Hb) and hematocrit values observed during their admission to the hospital were recorded in the forms. Male patients with an Hb level of <13 g/dL and nonpregnant female patients with an Hb level of <12 g/dL were considered as anemic. Findings Axis 1 diagnoses demonstrated that 172 patients had depressive disorder, 51 patients had bipolar disorder, 54 patients had psychotic disorder, 33 patients had conversion disorder, 19 patients had obsessive-compulsive disorder, 25 patients had generalized anxiety disorder, and 24 patients had other psychiatric conditions. It was also determined that 25.4% of the patients suffered from anemia. Thirty-five percent of females and 10% of males were considered as anemic. The frequency of anemia was the highest among psychotic disorder patients (35%), followed by generalized anxiety disorder patients (32%), and obsessive-compulsive disorder patients (26%). Anemia was diagnosed in 22% of depressive disorder patients, 25% of bipolar disorder patients, and 24% of conversion disorder patients. Results The prevalence of anemia among chronic psychiatry patients is more frequent than the general population. Thus, the study concluded that it would be beneficial to consider the physical symptoms and to conduct the required examinations to determine anemia among this patient group. PMID:26543367

  9. Anemia among school children in eastern Nepal.

    PubMed

    Khatiwada, Saroj; Gelal, Basanta; Gautam, Sharad; Tamang, Man Kumar; Shakya, Prem Raj; Lamsal, Madhab; Baral, Nirmal

    2015-06-01

    Anemia is one of the most common public health problems in developing countries like Nepal. This study was done to find the prevalence of anemia among the children aged 4-13 years in eastern Nepal. A cross-sectional study was conducted in 2012 in four districts (Morang, Udayapur, Bhojpur and Ilam) of eastern Nepal to find the prevalence of anemia among the school children of eastern Nepal. Children aged 4-13 years were selected randomly from different schools of above districts and 618 venous blood samples were collected. Hemoglobin level was estimated by using cyanmethemoglobin method. The mean hemoglobin level was 12.2 ± 1.82 gm/dl. About 37.9% (n = 234) children were found anemic. Anemia prevalence was 42.4% (n = 78), 31.6% (n = 60), 45.3% (n = 48) and 34.8% (n = 48) among school children of Morang, Udayapur, Bhojpur and Ilam district, respectively. The study finds anemia as a significant health problem among the school children of eastern Nepal. PMID:25828831

  10. Reticulocyte maturity indices in iron deficiency anemia

    PubMed Central

    Wollmann, Muriel; Gerzson, Branca Maria Cerezer; Schwert, Vanessa; Figuera, Rafael Weber; Ritzel, Guilherme de Oliveira

    2014-01-01

    Objective The aim of this study was to analyze the reticulocyte maturity indices (low, medium, and high fluorescence ratios) in iron deficient 1- to 6-year-old children, and identify the prevalence of iron deficiency anemia in this population. Methods The present study included 39 subjects, divided into two groups: control subjects (n = 33), and subjects with iron deficiency anemia (n = 6). The results were analyzed by Student's t-test for comparison of means. Differences were considered significant when two-tailed p-value < 0.05. Results Subjects with iron deficiency anemia presented increases in the proportion of mean (10.3 ± 4.7% vs. 6.0 ± 3.4%; p-value = 0.003), and high fluorescence reticulocytes (2.3 ± 0.87% vs. 0.9 ± 0.9%; p-value = 0.03) compared to the control group. The prevalence of anemia in this population was 15% (n = 6). Conclusion The indices related to immaturity of reticulocytes are higher in the presence of iron deficiency, thus demonstrating a deficiency in the raw material to form hemoglobin and are, therefore, possible early markers of iron deficiency and anemia. We emphasize the need to standardize these indices for use in clinical practice and lab test results. PMID:24624032

  11. Aplastic anemia in a petrochemical factory worker.

    PubMed Central

    Baak, Y M; Ahn, B Y; Chang, H S; Kim, J H; Kim, K A; Lim, Y

    1999-01-01

    A petrochemical worker with aplastic anemia was referred to our hospital. He worked in a petroleum resin-producing factory and had been exposed to low-level benzene while packaging the powder resin and pouring lime into a deactivation tank. According to the yearly environmental survey of the working area, the airborne benzene level was approximately 0.28 ppm. Exposure to benzene, a common chemical used widely in industry, may progressively lead to pancytopenia, aplastic anemia, and leukemia. The hematotoxicity of benzene is related to the amount and duration of exposure. Most risk predictions for benzene exposures have been based on rubber workers who were exposed to high concentrations. In the petroleum industry, the concentration of benzene is relatively low, and there are disputes over the toxicity of low-level benzene because of a lack of evidence. In this paper we report the case of aplastic anemia induced by low-level benzene exposure. Images Figure 1 PMID:10504154

  12. [Research Progress on Pathogenesis of Aplastic Anemia].

    PubMed

    Liu, Hai-Yun; Liu, Ting-Ting

    2015-08-01

    Aplastic anemia is a disease characterized by low bone marrow hematopoietic function and derease of whole blood cells caused by a variety of reasons. Its pathogenesis includes abnormality of hematopoietic stem cells (seed theory), hematopoietic microenvironment (soil theory) and immune function (such as worms theory). These 3 causes of disease interact each other and facilitate the development of aplastic anemia, thereby increase the complexity of the etiological diagnosis and uncertainty of treatment. On this basis, this review summarizes the latest research progress on the blood supply of bone marrow microcirculation in the hematopoietic microenvironment, stromal cells, cytokins, the immune function of dendritic cells, natural killer cells, T cell subgroup, the secretion of cytokines, cell signal transduction, and hematopoietic stem cell gene abnormality to provides the theoretic basis for the diagnosis and treatment of aplastic anemia. PMID:26314477

  13. Nucleolar stress in Diamond Blackfan anemia pathophysiology.

    PubMed

    Ellis, Steven R

    2014-06-01

    Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of Diamond Blackfan anemia are caused by ribosome assembly defects linked to haploinsufficiency for structural proteins of either ribosomal subunit. Nucleolar stress associated with abortive ribosome assembly leads to p53 activation via the interaction of free ribosomal proteins with HDM2, a negative regulator of p53. Significant challenges remain in linking this nucleolar stress signaling pathway to the clinical features of Diamond Blackfan anemia. Defining aspects of disease presentation may relate to developmental and physiological triggers that work in conjunction with nucleolar stress signaling to heighten the p53 response in the developing erythron after birth. The growing number of ribosomopathies provides additional challenges for linking molecular mechanisms with clinical phenotypes. This article is part of a Special Issue entitled: Role of the Nucleolus in Human Disease. PMID:24412987

  14. Anemia in hospitalized patients with pulmonary tuberculosis*

    PubMed Central

    Oliveira, Marina Gribel; Delogo, Karina Neves; de Oliveira, Hedi Marinho de Melo Gomes; Ruffino-Netto, Antonio; Kritski, Afranio Lineu; Oliveira, Martha Maria

    2014-01-01

    OBJECTIVE: To describe the prevalence of anemia and of its types in hospitalized patients with pulmonary tuberculosis. METHODS: This was a descriptive, longitudinal study involving pulmonary tuberculosis inpatients at one of two tuberculosis referral hospitals in the city of Rio de Janeiro, Brazil. We evaluated body mass index (BMI), triceps skinfold thickness (TST), arm muscle area (AMA), ESR, mean corpuscular volume, and red blood cell distribution width (RDW), as well as the levels of C-reactive protein, hemoglobin, transferrin, and ferritin. RESULTS: We included 166 patients, 126 (75.9%) of whom were male. The mean age was 39.0 ± 10.7 years. Not all data were available for all patients: 18.7% were HIV positive; 64.7% were alcoholic; the prevalences of anemia of chronic disease and iron deficiency anemia were, respectively, 75.9% and 2.4%; and 68.7% had low body weight (mean BMI = 18.21 kg/m2). On the basis of TST and AMA, 126 (78.7%) of 160 patients and 138 (87.9%) of 157 patients, respectively, were considered malnourished. Anemia was found to be associated with the following: male gender (p = 0.03); low weight (p = 0.0004); low mean corpuscular volume (p = 0.03);high RDW (p = 0; 0003); high ferritin (p = 0.0005); and high ESR (p = 0.004). We also found significant differences between anemic and non-anemic patients in terms of BMI (p = 0.04), DCT (p = 0.003), and ESR (p < 0.001). CONCLUSIONS: In this sample, high proportions of pulmonary tuberculosis patients were classified as underweight and malnourished, and there was a high prevalence of anemia of chronic disease. In addition, anemia was associated with high ESR and malnutrition. PMID:25210963

  15. Unexpected Anemia and Reticulocytopenia in an Adolescent With Sickle Cell Anemia Receiving Chronic Transfusion Therapy.

    PubMed

    Blauel, Emily R; Grossmann, Lily T; Vissa, Madhav; Miller, Scott T

    2015-10-01

    In a patient with sickle cell disease receiving chronic transfusion, exacerbation of anemia with reticulocytopenia must prompt consideration of a delayed hemolytic transfusion reaction with hyperhemolysis, as further transfusion may worsen this condition; definitive diagnosis is sometimes difficult. Anemia evolving during parvovirus B19-induced erythroid hypoplasia (transient aplastic crisis) should be attenuated in chronic transfusion patients due to superior survival of transfused over endogenous red blood cells. A 16-year-old with sickle cell disease receiving chronic transfusion of modified intensity (goal to maintain hemoglobin S<50%) who developed symptomatic anemia with reticulocytopenia was later shown to have had transient aplastic crisis. PMID:26207780

  16. Genetic modulation of sickle cell anemia

    SciTech Connect

    Steinberg, M.H.

    1995-05-01

    Sickle cell anemia, a common disorder associated with reduced life span of the red blood cell and vasoocclusive events, is caused by a mutation in the {Beta}-hemoglobin gene. Yet, despite this genetic homogeneity, the phenotype of the disease is heterogeneous. This suggests the modulating influence of associated inherited traits. Some of these may influence the accumulation of fetal hemoglobin, a hemoglobin type that interferes with the polymerization of sickle hemoglobin. Another inherited trait determines the accumulation of {alpha}-globin chains. This review focuses on potential genetic regulators of the phenotype of sickle cell anemia. 125 refs., 6 figs., 3 tabs.

  17. Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.

    PubMed

    Scott, Angela; Glover, Jason; Skoda-Smith, Suzanne; Torgerson, Troy R; Xu, Min; Burroughs, Lauri M; Woolfrey, Ann E; Fleming, Mark D; Shimamura, Akiko

    2015-11-01

    Aplastic anemia in the neonate is rare. We report a case of severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia. This report highlights the importance of considering SCID early in the evaluation of neonatal aplastic anemia prior to the development of infectious complications. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc. PMID:26011426

  18. Iron deficiency and hemolytic anemia reversed by ventricular septal myectomy

    PubMed Central

    Costa, Steven M.; Cable, Christian

    2015-01-01

    Hemolytic anemia has been reported to occur in the setting of aortic stenosis and prosthetic heart valves, but much more rarely in association with obstructive hypertrophic cardiomyopathy (HC). Of the few descriptions of hemolytic anemia secondary to HC, all but one case involved bacterial endocarditis contributing to left ventricular outflow tract obstruction. We present the case of a 67-year-old man with recurrent hemolytic anemia and HC, without infective endocarditis. Attempts at iron repletion and augmentation of beta-blocker therapy proved his anemia to be refractory to medical management. Ventricular septal myectomy led to the resolution of hemolysis, anemia, and its coexisting symptoms. PMID:26424952

  19. The Molecular Connection Between Aluminum Toxicity, Anemia,

    E-print Network

    Appanna, Vasu

    to iron deficiency (McClung et al, 2009). Gaining incredible importance as a global health issue, obesity, there is an increase in the incidence of childhood and adolescent obesity in industrialized countries where the number25 The Molecular Connection Between Aluminum Toxicity, Anemia, Inflammation and Obesity

  20. Who Is at Risk for Anemia?

    MedlinePLUS

    ... keep an infant or toddler from eating enough iron-rich foods or absorbing enough iron from foods. Older adults also are at increased risk for anemia. Researchers continue to study how the condition affects older adults. Many of ... that is low in iron, vitamins, or minerals Blood loss from surgery or ...

  1. Screening for neonatal isohemolytic anemia in calves.

    PubMed

    Luther, D G; Cox, H U; Nelson, W O

    1985-05-01

    Anti-erythrocytic immunoglobulins in serum and colostrum of 124 anaplasmosis-vaccinated cows were detected with a saline agglutination test. Positive results were correlated with the occurrence of neonatal isohemolytic anemia (NIA) in calves and were used to predict the occurrence of NIA. The disease was prevented by withholding colostrum from calves with a high potential for NIA. PMID:4003882

  2. Iron deficiency anemia in inflammatory bowel disease.

    PubMed

    Kaitha, Sindhu; Bashir, Muhammad; Ali, Tauseef

    2015-08-15

    Anemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD) and is frequently overlooked as a complication. Patients with IBD are commonly found to have iron deficiency anemia (IDA) secondary to chronic blood loss, and impaired iron absorption due to tissue inflammation. Patients with iron deficiency may not always manifest with signs and symptoms; so, hemoglobin levels in patients with IBD must be regularly monitored for earlier detection of anemia. IDA in IBD is associated with poor quality of life, necessitating prompt diagnosis and appropriate treatment. IDA is often associated with inflammation in patients with IBD. Thus, commonly used laboratory parameters are inadequate to diagnose IDA, and newer iron indices, such as reticulocyte hemoglobin content or percentage of hypochromic red cells or zinc protoporphyrin, are required to differentiate IDA from anemia of chronic disease. Oral iron preparations are available and are used in patients with mild disease activity. These preparations are inexpensive and convenient, but can produce gastrointestinal side effects, such as abdominal pain and diarrhea, that limit their use and patient compliance. These preparations are partly absorbed due to inflammation. Non-absorbed iron can be toxic and worsen IBD disease activity. Although cost-effective intravenous iron formulations are widely available and have improved safety profiles, physicians are reluctant to use them. We present a review of the pathophysiologic mechanisms of IDA in IBD, improved diagnostic and therapeutic strategies, efficacy, and safety of iron replacement in IBD. PMID:26301120

  3. Iron deficiency anemia in inflammatory bowel disease

    PubMed Central

    Kaitha, Sindhu; Bashir, Muhammad; Ali, Tauseef

    2015-01-01

    Anemia is a common extraintestinal manifestation of inflammatory bowel disease (IBD) and is frequently overlooked as a complication. Patients with IBD are commonly found to have iron deficiency anemia (IDA) secondary to chronic blood loss, and impaired iron absorption due to tissue inflammation. Patients with iron deficiency may not always manifest with signs and symptoms; so, hemoglobin levels in patients with IBD must be regularly monitored for earlier detection of anemia. IDA in IBD is associated with poor quality of life, necessitating prompt diagnosis and appropriate treatment. IDA is often associated with inflammation in patients with IBD. Thus, commonly used laboratory parameters are inadequate to diagnose IDA, and newer iron indices, such as reticulocyte hemoglobin content or percentage of hypochromic red cells or zinc protoporphyrin, are required to differentiate IDA from anemia of chronic disease. Oral iron preparations are available and are used in patients with mild disease activity. These preparations are inexpensive and convenient, but can produce gastrointestinal side effects, such as abdominal pain and diarrhea, that limit their use and patient compliance. These preparations are partly absorbed due to inflammation. Non-absorbed iron can be toxic and worsen IBD disease activity. Although cost-effective intravenous iron formulations are widely available and have improved safety profiles, physicians are reluctant to use them. We present a review of the pathophysiologic mechanisms of IDA in IBD, improved diagnostic and therapeutic strategies, efficacy, and safety of iron replacement in IBD. PMID:26301120

  4. Diagnosing and treating severe aplastic anemia.

    PubMed

    McKee, Natasha

    2015-09-01

    Severe aplastic anemia is a disorder of stem cell failure, leading to pancytopenia. The condition is characterized by an impairment of the function of hematopoietic stem cells. Patients typically have fatigue, infections, and increased or unusual bleeding. A bone marrow biopsy establishes the diagnosis. Treatment includes hematopoietic stem cell transplant or immunosuppressive therapy. PMID:26302322

  5. The maternal side of Fanconi Anemia.

    PubMed

    Ruiz, Sergio; Fernandez-Capetillo, Oscar

    2014-09-18

    Fanconi anemia is characterized by a higher sensitivity to DNA crosslinking agents, including aldehydes. In this issue of Molecular Cell, Oberbeck et al. (2014) reveal that detoxification of aldehydes by pregnant mothers contributes to limit the severity of the disease. PMID:25238193

  6. Anemia among Primary School Children in Eastern Ethiopia

    PubMed Central

    2015-01-01

    Background Anemia during childhood impairs physical growth, cognitive development and school performance. Identifying the causes of anemia in specific contexts can help efforts to prevent negative consequences of anemia among children. The objective of this study was to assess prevalence and identify correlates of anemia among school children in Eastern Ethiopia. Methods A cross sectional study was conducted from January 2012 to February 2012 in Kersa, Eastern Ethiopia. The study included randomly selected primary school students. Hemoglobin concentration was measured using a Hemocue haemoglobinometer. A child was identified as anemic if the hemoglobin concentration was <11.5 g/dl for children (5–11 yrs) and < 12 g/dl for child older than 12 years age. Poisson regression model with robust variance was used to calculate prevalence ratios. Result The overall prevalence of anemia was 27.1% (95% CI: 24.98, 29.14): 13.8% had mild, 10.8% moderate, and 2.3% severe anemia. Children with in the age group of 5-9 years (APR, 1.083; 95% CI, 1.044- 1.124) were at higher risk for anemia. Paternal education (Illiterate, 1.109; 1.044 - 1.178) was positively associated with anemia. Children who had irregular legume consumption (APR, 1.069; 95% CI, 1.022 -1.118) were at higher risk for anemia. Conclusion About a quarter of school children suffer from anemia and their educational potential is likely to be affected especially for those with moderate and severe anemia. Child age, irregular legume consumption, and low paternal schooling were associated with anemia. Intervention programmes aimed to reduce anemia among school children are crucial to ensure proper growth and development of children. PMID:25902055

  7. [Molecular study of Fanconi anemia in Tunisia].

    PubMed

    Bouchlaka, Chiraz; Abdelhak, Sonia; Dellagi, Koussay

    2004-05-01

    Fanconi anemia (FA) is an autosomal recessive rare disease characterized by progressive pancytopenia, congenital malformations and predisposition to acute myeloid leukemia. Fanconi anemia is genetically heterogeneous, with at least eight complementation groups of FA (FAA to FAD2). In order to characterize the molecular defects underlying FA in Tunisia, fourty-one families were genotyped with microsatellite markers linked to known FA gene. Haplotype analysis and homozygosity mapping showed that 92% of these families belong to FAA group. We demonstrated the effectiveness of the molecular analysis for a better selection of bone marrow graft donor and for the evaluation of chimerism after bone marrow transplantation. This study also allows genetic counselling for FA family members. PMID:15453041

  8. Fanconi anemia and the development of leukemia

    PubMed Central

    Alter, Blanche P.

    2014-01-01

    Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain tumors, and Wilms tumor; several patients have multiple events. Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of marrow failure, 20% of AML, and 30% of solid tumors (usually head and neck or gynecologic squamous cell carcinoma), by age 40, and they too are at risk of multiple adverse events. Hematopoietic stem cell transplant may cure AML and MDS, and preemptive transplant may be appropriate, but its use is a complicated decision. PMID:25455269

  9. Fanconi anemia and the development of leukemia.

    PubMed

    Alter, Blanche P

    2014-01-01

    Fanconi anemia (FA) is a rare autosomal recessive cancer-prone inherited bone marrow failure syndrome, due to mutations in 16 genes, whose protein products collaborate in a DNA repair pathway. The major complications are aplastic anemia, acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and specific solid tumors. A severe subset, due to mutations in FANCD1/BRCA2, has a cumulative incidence of cancer of 97% by age 7 years; the cancers are AML, brain tumors, and Wilms tumor; several patients have multiple events. Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of marrow failure, 20% of AML, and 30% of solid tumors (usually head and neck or gynecologic squamous cell carcinoma), by age 40, and they too are at risk of multiple adverse events. Hematopoietic stem cell transplant may cure AML and MDS, and preemptive transplant may be appropriate, but its use is a complicated decision. PMID:25455269

  10. Autoimmune hemolytic anemia: classification and therapeutic approaches.

    PubMed

    Sève, Pascal; Philippe, Pierre; Dufour, Jean-François; Broussolle, Christiane; Michel, Marc

    2008-12-01

    Autoimmune hemolytic anemia (AIHA) is a relatively uncommon cause of anemia. Classifications of AIHA include warm AIHA, cold AIHA (including mainly chronic cold agglutinin disease and paroxysmal cold hemoglobinuria), mixed-type AIHA and drug-induced AIHA. AIHA may also be further subdivided on the basis of etiology. Management of AIHA is based mainly on empirical data and on small, retrospective, uncontrolled studies. The therapeutic options for treating AIHA are increasing with monoclonal antibodies and, potentially, complement inhibitory drugs. Based on data available in the literature and our experience, we propose algorithms for the treatment of warm AIHA and cold agglutinin disease in adults. Therapeutic trials are needed in order to better stratify treatment, taking into account the promising efficacy of rituximab. PMID:21082924

  11. Diagnosis and classification of pernicious anemia.

    PubMed

    Bizzaro, Nicola; Antico, Antonio

    2014-01-01

    Pernicious anemia (PA) is a complex disorder consisting of hematological, gastric and immunological alterations. Diagnosis of PA relies on histologically proven atrophic body gastritis, peripheral blood examination showing megaloblastic anemia with hypersegmented neutrophils, cobalamin deficiency and antibodies to intrinsic factor and to gastric parietal cells. Anti-parietal cell antibodies are found in 90% of patients with PA, but have low specificity and are seen in atrophic gastritis without megaloblastic anemia as well as in various autoimmune disorders. Anti-intrinsic factor antibodies are less sensitive, being found in only 60% of patients with PA, but are considered highly specific for PA. The incidence of PA increases with age and is rare in persons younger than 30 years of age. The highest prevalence is seen in Northern Europeans, especially those in the United Kingdom and Scandinavia, although PA has been reported in virtually every ethnic group. Because of the complexity of the diagnosis, PA prevalence is probably underestimated and no reliable data are available on the risk of gastric cancer as the end-stage evolution of atrophic gastritis in these patients. PMID:24424200

  12. [Copper deficiency anemia morphologically mimicking myelodysplastic syndrome].

    PubMed

    Kikuchi, Taku; Mori, Takehiko; Shimizu, Takayuki; Morita, Shinya; Kono, Hidaka; Nakagawa, Ken; Mitsuhasi, Takayuki; Murata, Mitsuru; Okamoto, Shinichiro

    2014-03-01

    A 64-year-old man underwent kidney transplantation for progressive chronic renal failure which had developed 8 years after allogeneic bone marrow transplantation for acute myeloid leukemia. Because of post-operative complications, he had been placed on intravenous hyperalimentation. Three months after the transplantation, anemia rapidly progressed (hemoglobin, 7.9 g/dl). The proportion of reticulocytes was 0.2%, but white blood cell and platelet counts remained within normal ranges. Serum iron, vitamin B12, and folate levels were normal. Bone marrow examination showed the presence of ringed sideroblasts and cytoplasmic vacuoles in a fraction of erythroid cells. Megakaryocytes were adequate in number with normal morphology. Although the findings were consistent with refractory anemia with ringed sideroblasts according to the WHO classification, cytoplasmic vacuolations were also observed in myeloid cells, suggesting copper deficiency. Indeed, serum copper and ceruloplasmin levels were found to be low (33 ?g/dl and 11 mg/dl, respectively), and oral copper supplementation at a daily dose of 1 mg was initiated. There was a prompt increase in reticulocytes, and the hemoglobin level was normalized within one month, in response to this regimen. In progressive anemia cases with ringed sideroblasts in the bone marrow, copper deficiency should be considered in the differential diagnosis. PMID:24681939

  13. Reassessment of the microcytic anemia of lead poisoning

    SciTech Connect

    Cohen, A.R.; Trotzky, M.S.; Pincus, D.

    1981-06-01

    Hematologic abnormalities in childhood lead poisoning may be due, in part, to the presence of other disorders, such as iron deficiency or thalassemia minor. In order to reassess increased lead burden as a cause of microcytic anemia, we studied 58 children with class III or IV lead poisoning, normal iron stores, and no inherited hemoglobinopathy. Anemia occurred in 12% and microcytosis in 21% of these children. The combination of anemia and microcytosis was found in only one of 58 patients (2%). When only children with class IV lead poisoning were studied, the occurrence of microcytosis increased to 46%. However, the combination of microcytosis and anemia was found in only one of these 13 more severely affected patients. Microcytic anemia was similarly uncommon in children with either blood lead concentration greater than or equal to 50 microgram/100 ml. These data indicate that microcytosis and anemia occur much less commonly than previously reported in childhood lead poisoning uncomplicated by other hematologic disorders.

  14. Anemia Among Children Exposed to Polyparasitism in Coastal Kenya.

    PubMed

    Chang Cojulun, Alicia; Bustinduy, Amaya L; Sutherland, Laura J; Mungai, Peter L; Mutuku, Francis; Muchiri, Eric; Kitron, Uriel; King, Charles H

    2015-11-01

    Anemia represents a substantial problem for children living in areas with limited resources and significant parasite burden. We performed a cross-sectional study of 254 Kenyan preschool- and early school-age children in a setting endemic for multiple chronic parasitic infections to explore mechanisms of their anemia. Complete venous blood cell counts revealed a high prevalence of local childhood anemia (79%). Evaluating the potential links between low hemoglobin and socioeconomic factors, nutritional status, hemoglobinopathy, and/or parasite infection, we identified age < 9 years (odds ratio [OR]: 12.0, 95% confidence interval [CI]: 4.4, 33) and the presence of asymptomatic malaria infection (OR: 6.8, 95% CI: 2.1, 22) as the strongest independent correlates of having anemia. A total of 130/155 (84%) of anemic children with iron studies had evidence of iron-deficiency anemia (IDA), 16% had non-IDA; 50/52 of additionally tested anemic children met soluble transferrin-receptor (sTfR) criteria for combined anemia of inflammation (AI) with IDA. Children in the youngest age group had the greatest odds of iron deficiency (OR: 10.0, 95% CI: 3.9, 26). Although older children aged 9-11 years had less anemia, they had more detectable malaria, Schistosoma infection, hookworm, and proportionately more non-IDA. Anemia in this setting appears multifactorial such that chronic inflammation and iron deficiency need to be addressed together as part of integrated management of childhood anemia. PMID:26324733

  15. Nutrient Intake and Anemia Risk in the WHI Observational Study

    PubMed Central

    Stanaway, Jeffrey; Neuhouser, Marian L.; Snetselaar, Linda G.; Stefanick, Marcia L.; Arendell, Leslie; Chen, Zhao

    2011-01-01

    Background Nutritional anemia among post-menopausal women is preventable; recent data on prevalence are limited. Objective To investigate the association between nutrient intakes and anemia prevalence, in relation to both incidence and persistence, in a longitudinal sample of post-menopausal women. We hypothesized that anemia prevalence, incidence and persistence would be greater among women reporting lower intake of B12, folate and iron. Design Prospective cohort analysis. Participants/setting Observational Cohort of the Women’s Health Initiative(WHI-OS) including 93,676 postmenopausal women, age 50 to 79 years, were recruited across the United States at 40 clinical study sites. Women were enrolled between 1993 and 1998; data collection for these analyses continued through 2000. Main outcome measures Anemia was defined as a blood hemoglobin concentration of <12.0 mg/dL. Persistent anemia was defined as anemia present at each measurement time point. Diet was assessed by food frequency questionnaire for iron, folate, B12, red meat and cold breakfast cereal; inadequacies were based on dietary reference intakes for women over age 50 years. Statistical analysis Descriptive statistics (mean and standard deviation) were used to characterize the population demographics, anemia rates and diet. Unconditional logistic regression was used to investigate associations between diet and incident and persistent anemia. Associations are presented as odds ratio (OR) and 95% confidence intervals (CI). Results Anemia was identified in 3,979 women or 5.5% of the cohort. Inadequate intakes of multiple anemia-associated nutrients were less frequent in non-Hispanic whites (7.4%) than other race/ethnic groups (inadequacies demonstrated in 14.6 to 16.3% of sample). Age, body mass index and smoking were associated with anemia. Women with anemia reported lower intakes of energy, protein, folate, B12, iron, vitamin C and red meat. Multiple (more than a single nutrient) dietary deficiencies were associated with a 21% greater risk of persistent anemia (OR-1.21, 95% CI: 1.05–1.41) and three deficiencies resulted in a 44% increase in risk for persistent anemia (OR-1.44, 95% CI: 1.20–1.73). Conclusion Inadequate nutrient intake, a modifiable condition, is associated with greater risk for anemia in post-menopausal women participating in the WHI-OS. Efforts to identify and update incidence estimates for anemia-associated nutrient deficiencies in aging women should be undertaken. PMID:21443985

  16. Iron deficiency anemia--bridging the knowledge and practice gap.

    PubMed

    Shander, Aryeh; Goodnough, Lawrence T; Javidroozi, Mazyar; Auerbach, Michael; Carson, Jeffrey; Ershler, William B; Ghiglione, Mary; Glaspy, John; Lew, Indu

    2014-07-01

    Despite its high prevalence, anemia often does not receive proper clinical attention, and detection, evaluation, and management of iron deficiency anemia and iron-restricted erythropoiesis can possibly be an unmet medical need. A multidisciplinary panel of clinicians with expertise in anemia management convened and reviewed recent published data on prevalence, etiology, and health implications of anemia as well as current therapeutic options and available guidelines on management of anemia across various patient populations and made recommendations on the detection, diagnostic approach, and management of anemia. The available evidence confirms that the prevalence of anemia is high across all populations, especially in hospitalized patients. Anemia is associated with worse clinical outcomes including longer length of hospital stay, diminished quality of life, and increased risk of morbidity and mortality, and it is a modifiable risk factor of allogeneic blood transfusion with its own inherent risks. Iron deficiency is usually present in anemic patients. An algorithm for detection and management of anemia was discussed, which incorporated iron study (with primary emphasis on transferrin saturation), serum creatinine and glomerular filtration rate, and vitamin B12 and folic acid measurements. Management strategies included iron therapy (oral or intravenous), erythropoiesis-stimulating agents, and referral as needed. PMID:24931617

  17. Cardiovascular autonomic dysfunction in sickle cell anemia.

    PubMed

    Martins, Wolney de Andrade; Lopes, Heno Ferreira; Consolim-Colombo, Fernanda Marciano; Gualandro, Sandra de Fátima Menosi; Arteaga-Fernández, Edmundo; Mady, Charles

    2012-01-26

    Sickle cell anemia (SCA) is associated to increased cardiac output, normal heart rate (HR), abnormal QT dispersion and lower diastolic blood pressure (DBP). The mechanisms are still unknown. The objective of this study was to test the hypothesis that there is cardiovascular autonomic dysfunction (CAD) in SCA. The secondary objectives were to distinguish the roles of chronic anemia and hemoglobinopathy and to evaluate the predominance of the sympathetic or parasympathetic systems in the pathogenesis of CAD. Sixteen subjects with SCA, 13 with sickle cell trait (SCT), 13 with iron deficiency anemia (IDA), and 13 healthy volunteers (HV) were evaluated. All subjects were submitted to 24h-electrocardiogram (24h-ECG), plasma norepinephrine (NE) measurement before and after isometric exercise (IE), and also Valsalva maneuver (VM), diving maneuver (DV), and tilt test (TT). Baroreflex sensitivity (BRS) was also evaluated. The minimum, average and maximum HR as well as the percentage of bradycardia and tachycardia at 24-h ECG were similar in all groups. NE at baseline and after IE did not differ between groups. The SCA group showed less bradycardia at phase IV of VM, less bradycardia during DV, and also less tachycardia and lower DBP during TT. BRS for bradycardia and tachycardia reflex was decreased in the SCA and SCT groups. In conclusion, 1) there is CAD in SCA, and it is characterized by the reduction of BRS and the limitation of HR modulation mediated by the parasympathetic system; 2) cardiovascular sympathetic activity is preserved in SCA; and 3) hemoglobinopathy is the preponderant ethiopathogenic factor. PMID:21868290

  18. Aplastic Anemia in Adolescents and Young Adults

    PubMed Central

    DeZern, Amy E.; Guinan, Eva C.

    2014-01-01

    Adolescent and young adult patient presentations of aplastic anemia require a particular perspective on both diagnosis and treatment. This unique age group necessitates a thorough diagnostic evaluation to ensure the etiology, acquired or inherited, is sufficiently determined. The treatment options include human leukocyte antigen-identical sibling hematopoietic cell transplantation or immunosuppressive therapy, and both require attention to the specific medical and social needs of these adolescents and young adults. Longitudinal surveillance throughout life for the development of late complications of the disease and treatment is mandatory. PMID:25228559

  19. Etiology of Strokes in Children with Sickle Cell Anemia

    ERIC Educational Resources Information Center

    DeBaun, Michael R.; Derdeyn, Colin P.; McKinstry, Robert C., III

    2006-01-01

    The most devastating complication of sickle cell anemia is cerebral infarction, affecting [approximately]30% of all individuals with sickle cell anemia. Despite being one of the most common causes of stroke in infants and children, the mechanism of cerebral infarction in this population has not been extensively studied and is poorly understood.…

  20. A case of splenic torsion with progressive anemia and thrombocytopenia.

    PubMed

    Schnier, Lisa M

    2010-05-01

    A 4-year-old male, castrated Saint Bernard was evaluated for acute onset of lethargy and collapse. Moderately severe anemia and splenomegaly were noted. Immune mediated hemolytic anemia was initially suspected. Abdominal ultrasound demonstrated an absence of splenic blood flow. Splenic torsion was confirmed on exploratory laparotomy and a splenectomy was performed. PMID:20676299

  1. Quantifying the Rheological and Hemodynamic Characteristics of Sickle Cell Anemia

    E-print Network

    Quantifying the Rheological and Hemodynamic Characteristics of Sickle Cell Anemia Huan Lei to full occlusion in some cases. INTRODUCTION Sickle cell anemia was the first disorder to be identified a validated multiscale model of red blood cells (RBCs) to represent different sickle cell morphologies based

  2. Probing vasoocclusion phenomena in sickle cell anemia via mesoscopic simulations

    E-print Network

    Probing vasoocclusion phenomena in sickle cell anemia via mesoscopic simulations Huan Lei December 6, 2012) Vasoocclusion crisis is a key hallmark of sickle cell anemia. Although early studies groups in multiple stages. However, the quantification of the biophysical characteristics of sickle cell

  3. Anemia in Patients with Type 2 Diabetes Mellitus

    PubMed Central

    Barbieri, Jéssica; Fontela, Paula Caitano; Winkelmann, Eliane Roseli; Zimmermann, Carine Eloise Prestes; Sandri, Yana Picinin; Mallet, Emanelle Kerber Viera; Frizzo, Matias Nunes

    2015-01-01

    The objective of this study was to evaluate the prevalence of anemia in DM2 patients and its correlation with demographic and lifestyle and laboratory variables. This is a descriptive and analytical study of the type of case studies in the urban area of the Ijuí city, registered in programs of the Family Health Strategy, with a total sample of 146 patients with DM2. A semistructured questionnaire with sociodemographic and clinical variables and performed biochemical test was applied. Of the DM2 patients studied, 50 patients had anemia, and it was found that the body mass items and hypertension and hematological variables are significantly associated with anemia of chronic disease. So, the prevalence of anemia is high in patients with DM2. The set of observed changes characterizes the anemia of chronic disease, which affects quality of life of diabetic patients and is associated with disease progression, development, and comorbidities that contribute significantly to increasing the risk of cardiovascular diseases. PMID:26640706

  4. Mild Anemia and Pregnancy Outcome in a Swiss Collective

    PubMed Central

    Bencaiova, Gabriela; Breymann, Christian

    2014-01-01

    Background. Over half of all women in the world experience anemia during their pregnancy. Our aim was to investigate the relation between hemoglobin and iron status examined in second trimester and pregnancy outcome. Methods. In a prospective longitudinal study, 382 pregnant women were included. Blood samples were examined for hematological status and serum ferritin between 16 and 20 weeks and for hemoglobin before delivery. The adverse maternal and perinatal outcomes were determined. Regression analysis was performed to establish if anemia and low serum ferritin are risk factors for pregnancy complications. Results. There was no increase of complications in women with mild anemia and in women with depleted iron stores. The finding showed that mild iron deficiency anemia and depleted iron stores are not risk factors for adverse outcomes in iron supplemented women. Conclusions. Mild anemia and depleted iron stores detected early in pregnancy were not associated with adverse maternal and perinatal outcomes in iron supplemented women. PMID:25478229

  5. The epidemiology of aplastic anemia in Thailand

    PubMed Central

    Issaragrisil, Surapol; Kaufman, David W.; Anderson, Theresa; Chansung, Kanchana; Leaverton, Paul E.; Shapiro, Samuel; Young, Neal S.

    2006-01-01

    Aplastic anemia has been linked to environmental exposures, from chemicals and medical drugs to infectious agents. The disease occurs more frequently in Asia than in the West, with incidence rates 2- to 3-fold higher. We report updated results of an epidemiologic study conducted in Thailand from 1989 to 2002, in which 541 patients and 2261 controls were enrolled. Exposures were determined by in-person interview. We observed significantly elevated relative risk estimates for benzene (3.5) and other solvents (2.0) and for sulfonamides (5.6), thiazides (3.8), and mebendazole (3.0). Chloramphenicol use was infrequent, and no significant association was observed. Agricultural pesticides were implicated in Khonkaen (northeastern Thailand). There were significant associations with organophosphates (2.1), DDT (6.7), and carbamates (7.4). We found significant risks for farmers exposed to ducks and geese (3.7) and a borderline association with animal fertilizer (2.1). There was a significant association in Khonkaen with drinking other than bottled or distilled water (2.8). Nonmedical needle exposure was associated in Bangkok and Khonkaen combined (3.8). Most striking was the large etiologic fraction in a rural region accounted for by animal exposures and drinking of water from sources such as wells, rural taps, and rainwater, consistent with an infectious etiology for many cases of aplastic anemia in Thailand. PMID:16254144

  6. Microfluidic approach of Sickled Cell Anemia

    NASA Astrophysics Data System (ADS)

    Abkarian, Manouk; Loiseau, Etienne; Massiera, Gladys

    2012-11-01

    Sickle Cell Anemia is a disorder of the microcirculation caused by a genetic point mutation that produces an altered hemoglobin protein called HbS. HbS self-assembles reversibly into long rope like fibers inside the red blood cells. The resulting distorded sickled red blood cells are believed to block the smallest capillaries of the tissues producing anemia. Despite the large amount of work that provided a thorough understanding of HbS polymerization in bulk as well as in intact red blood cells at rest, no consequent cellular scale approaches of the study of polymerization and its link to the capillary obstruction have been proposed in microflow, although the problem of obstruction is in essence a circulatory problem. Here, we use microfluidic channels, designed to mimic physiological conditions (flow velocity, oxygen concentration, hematocrit...) of the microcirculation to carry out a biomimetic study at the cellular scale of sickled cell vaso-occlusion. We show that flow geometry, oxygen concentration, white blood cells and free hemoglobin S are essential in the formation of original cell aggregates which could play a role in the vaso-occlusion events.

  7. Diagnosis of Pernicious Anemia and the Risk of Pancreatic Cancer

    PubMed Central

    Shah, Pari; Rhim, Andrew D.; Haynes, Kevin; Hwang, Wei-Ting; Yang, Yu-Xiao

    2014-01-01

    Objectives A number of studies have demonstrated a trophic effect of gastrin on pancreatic cancer cells in vitro. Pernicious anemia is a clinical condition characterized by chronic hypergastrinemia. The aim of this study is to determine if pernicious anemia is a risk factor for pancreatic cancer. Methods This study is a retrospective cohort study using the Health Improvement Network (THIN) database, which contains comprehensive health information on 7.5 million patients in the United Kingdom from 1993–2009. All patients with pernicious anemia in the study cohort were identified and composed the exposed group. Each exposed patient was matched on practice site, sex, and age with up to four unexposed patients without pernicious anemia. The outcome was incident pancreatic cancer. The hazard ratio and 95% confidence intervals (CI) were estimated using multivariable Cox regression analysis. Results We identified 15,324 patients with pernicious anemia and 55,094 unexposed patients. Mean follow up time was similar between groups (exposed 4.31 [standard deviation (SD) 3.38] years, unexposed 4.63 [SD 3.44] years). The multivariable adjusted hazard ratio for pancreatic cancer associated with pernicious anemia was 1.16 (95% CI 0.77–1.76, p=0.47). Conclusions There is no significant association between pernicious anemia and the risk of pancreatic cancer. PMID:24622073

  8. Prevalence and Determinants of Anemia and Iron Deficiency in Kuwait

    PubMed Central

    Al Zenki, Sameer; Alomirah, Husam; Al Hooti, Suad; Al Hamad, Nawal; Jackson, Robert T.; Rao, Aravinda; Al Jahmah, Nasser; Al Obaid, Ina’am; Al Ghanim, Jameela; Al Somaie, Mona; Zaghloul, Sahar; Al Othman, Amani

    2015-01-01

    The objective of this study was to assess the prevalence of anemia and iron deficiency (ID) of a nationally representative sample of the Kuwait population. We also determined if anemia differed by socioeconomic status or by RBC folate and vitamins A and B12 levels. The subjects who were made up of 1830 males and females between the ages of 2 months to 86 years, were divided into the following age groups (0–5, 5–11, 12–14, 15–19, 20–49, ?50 years). Results showed that the prevalence of anemia was 3% in adult males and 17% in females. The prevalence of ID varied according to age between 4% (?50 years) and 21% (5–11 years) and 9% (12–14 years) and 23% (15–19 years), respectively, in males and females. The prevalence of anemia and ID was higher in females compared to males. Adults with normal ferritin level, but with low RBC folate and vitamins A and B12 levels had higher prevalence of anemia than those with normal RBC folate and vitamins A and B12 levels. This first nationally representative nutrition and health survey in Kuwait indicated that anemia and ID are prevalent and ID contributes significantly to anemia prevalence. PMID:26264015

  9. Anemia and risk of dementia in older adults

    PubMed Central

    Hong, Chang Hyung; Falvey, Cherie; Harris, Tamara B.; Simonsick, Eleanor M.; Satterfield, Suzanne; Ferrucci, Luigi; Metti, Andrea L.; Patel, Kushang V.

    2013-01-01

    Objective: To determine whether anemia is associated with incident dementia in older adults. Methods: We studied 2,552 older adults (mean age 76.1 years; 38.9% black; 51.8% female) participating in the Health, Aging, and Body Composition study and free of dementia at baseline. We defined anemia using WHO criteria (hemoglobin concentration <13 g/dL for men and <12 g/dL for women). Dementia diagnosis was determined by dementia medication use, hospital records, or a change in Modified Mini-Mental State (3MS) score of more than 1.5 SD from mean. Discrete time Cox proportional hazard regression models were used to examine the hazard for developing dementia associated with anemia. Results: Of 2,552 participants, 392 (15.4%) older adults had anemia at baseline. Over 11 years of follow-up, 455 (17.8%) participants developed dementia. In the unadjusted model, those with baseline anemia had an increased risk of dementia (23% vs 17%, hazard ratio = 1.64; 95% confidence interval 1.30, 2.07) compared to those without anemia. The association remained significant after adjusting for demographics, APOE ?4, baseline 3MS score, comorbidities, and renal function. Additional adjustment for other anemia measures (mean corpuscular volume, red cell distribution width), erythropoietin, and C-reactive protein did not appreciably change the results. There was no interaction by sex and race on risk of developing dementia. Conclusion: Among older adults, anemia is associated with an increased risk of developing dementia. Findings suggest that further study of anemia as a risk factor for dementia and a target for intervention for cognitive health is warranted. PMID:23902706

  10. Anemia as the Main Manifestation of Myelodysplastic Syndromes.

    PubMed

    Santini, Valeria

    2015-10-01

    Myelodysplastic syndromes (MDS) are a constellation of different diseases sharing anemia in the great majority of cases, and this cytopenia defines these pathologies and their most dramatic clinical manifestations. Anemia in MDS is due to ineffective erythropoiesis, with a high degree of apoptosis of marrow erythroid progenitors. These progenitors show distinctive dysplastic features that consent diagnosis, and are recognizable and differentiated, although not easily, from other morphologic alterations present in other types of anemia. Reaching the diagnosis of MDS in a macrocytic anemia and alleviating the symptoms of anemia are therefore an essential objective of the treating physician. In this work, the signs and symptoms of anemia in MDS, as well as its peculiar pathophysiology, are discussed. Erythopoietic stimulating agents (ESAs) are providing the best treatment for anemic MDS patients, but their use is still not approved by health agencies. While still waiting for this waiver, their clinical use is widespread and their effectivness is well known, as well as the dismal prognosis of patients who do not respond to ESAs and require transfusions. MDS with del5q constitute a unique model of anemia whose complex pathophysiology has been clarified at least partially, defining its link to ribosomal alterations likewise what observed in hereditary anemias like Blackfan Diamond anemia. Lenalidomide is the agent that has shown striking and specific erythropoietic activity in del5q MDS, and the basis of this response is starting to be understood. Several new agents are under evaluation for ESA refractory/relapsed MDS patients, targeting different putative mechanisms of ineffective erythropoiesis, and are here reviewed. PMID:26404446

  11. How I treat acquired aplastic anemia

    PubMed Central

    Young, Neal S.

    2012-01-01

    Survival in severe aplastic anemia (SAA) has markedly improved in the past 4 decades because of advances in hematopoietic stem cell transplantation, immunosuppressive biologics and drugs, and supportive care. However, management of SAA patients remains challenging, both acutely in addressing the immediate consequences of pancytopenia and in the long term because of the disease's natural history and the consequences of therapy. Recent insights into pathophysiology have practical implications. We review key aspects of differential diagnosis, considerations in the choice of first- and second-line therapies, and the management of patients after immunosuppression, based on both a critical review of the recent literature and our large personal and research protocol experience of bone marrow failure in the Hematology Branch of the National Heart, Lung, and Blood Institute. PMID:22517900

  12. Pernicious anemia. From past to present.

    PubMed

    Rodríguez de Santiago, E; Ferre Aracil, C; García García de Paredes, A; Moreira Vicente, V F

    2015-01-01

    Pernicious anemia is currently the most common cause of vitamin B12 deficiency in Western countries. The histological lesion upon which this condition is based is autoimmune chronic atrophic gastritis. The destruction of parietal cells causes a deficiency in intrinsic factor, an essential protein for vitamin B12 absorption in the terminal ileum. Advances in the last two decades have reopened the debate on a disease that seemed to have been forgotten due to its apparent simplicity. The new role of H. pylori, the value of parietal cell antibodies and intrinsic factor antibodies, the true usefulness of serum vitamin B12 levels, the risk of adenocarcinoma and gastric carcinoids and oral vitamin B12 treatment are just some of the current issues analyzed in depth in this review. PMID:25680481

  13. Assessing Chaos in Sickle Cell Anemia Crises

    NASA Astrophysics Data System (ADS)

    Harris, Wesley; Le Floch, Francois

    2006-11-01

    Recent developments in sickle cell research and blood flow modeling allow for new interpretations of the sickle cell crises. With an appropriate set of theoretical and empirical equations describing the dynamics of the red cells in their environment, and the response of the capillaries to major changes in the rheology, a complete mathematical system has been derived. This system of equations is believed to be of major importance to provide new and significant insight into the causes of the disease and related crises. With simulations, it has been proven that the system transition from a periodic solution to a chaotic one, which illustrates the onset of crises from a regular blood flow synchronized with the heart beat. Moreover, the analysis of the effects of various physiological parameters exposes the potential to control chaotic solutions, which, in turn, could lead to the creation of new and more effective treatments for sickle cell anemia. .

  14. Altered translation of GATA1 in Diamond-Blackfan anemia

    E-print Network

    Ludwig, Leif S.

    Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA)[superscript 1, 2], congenital asplenia[superscript 3] and T cell leukemia[superscript 4]. Yet, how mutations in ...

  15. What Are the Signs and Symptoms of Aplastic Anemia?

    MedlinePLUS

    ... of aplastic anemia. Signs and Symptoms of Low Blood Cell Counts Red Blood Cells The most common symptom of a low red ... an enlarged heart, or even heart failure . White Blood Cells White blood cells help fight infections. Signs and ...

  16. Genetics Home Reference: Thiamine-responsive megaloblastic anemia syndrome

    MedlinePLUS

    ... individuals with thiamine-responsive megaloblastic anemia syndrome develop optic atrophy, which is the degeneration (atrophy) of the ... with diabetes mellitus and sensorineural deafness MedlinePlus Encyclopedia: Optic nerve atrophy MedlinePlus Encyclopedia: Thiamine You might also ...

  17. How the Fanconi Anemia pathway guards the genome

    PubMed Central

    Moldovan, George-Lucian; D’Andrea, Alan D.

    2010-01-01

    Fanconi Anemia (FA) is an inherited genomic instability disorder, caused by mutations in genes regulating replication-dependent removal of interstrand DNA crosslinks. The Fanconi Anemia pathway is thought to coordinate a complex mechanism that enlists elements of three classic DNA repair pathways, namely homologous recombination, nucleotide excision repair, and mutagenic translesion synthesis, in response to genotoxic insults. To this end, the Fanconi Anemia pathway employs a unique nuclear protein complex that ubiquitinates FANCD2 and FANCI, leading to formation of DNA repair structures. Lack of obvious enzymatic activities among most FA members has made it challenging to unravel its precise modus operandi. Here we review the current understanding of how the Fanconi Anemia pathway components participate in DNA repair and discuss the mechanisms that regulate this pathway to ensure timely, efficient, and correct restoration of chromosomal integrity. PMID:19686080

  18. Genetics Home Reference: X-linked sideroblastic anemia and ataxia

    MedlinePLUS

    ... helps maintain an appropriate balance of iron (iron homeostasis) in developing red blood cells. ABCB7 mutations slightly ... its usual role in heme production and iron homeostasis. Anemia results when heme cannot be produced normally, ...

  19. Diphyllobothrium pacificum Infection is Seldom Associated with Megaloblastic Anemia

    PubMed Central

    Jimenez, Juan A.; Rodriguez, Silvia; Gamboa, Ricardo; Rodriguez, Lourdes; Garcia, Hector H.

    2012-01-01

    Twenty cases of Dyphillobothrium pacificum (fish tapeworm) infections were prospectively studied to determine whether this tapeworm is associated with megaloblastic anemia, as commonly reported for D. latum infections. The most frequent symptoms were fatigue and mild abdominal pain, which were identified in approximately 66.6% of the 18 patients interviewed. Fourteen patients received treatment with niclosamide and all were cured. The other six patients spontaneously eliminated the tapeworms. One patient, who also had chronic diabetes and gastric atrophy, had low vitamin B12 levels and megaloblastic anemia. In all other patients, including three other patients with anemia, baseline vitamin B12 levels were in the reference range and did not significantly change when re-assessed three months later. Unlike D. latum, infection with D. pacificum is seldom associated with megaloblastic anemia or vitamin B12 deficit. PMID:22987655

  20. Red cell distribution width in sickle cell anemia.

    PubMed

    Schweiger, D J

    1981-04-01

    Red cell distribution width (RDW) is a new parameter, measured electronically on the Coulter Counter Model S-Plus. This new parameter measures the degree of anisocytosis, as compared to the average cell size calculated by the MCV parameter. In this study, comparison of RDW values between patients with anemia caused by sickle cell disease and patients with anemia of other causes were significantly different in an ANCOVA statistical analysis (F = 23.0 and p less than 0.001). RDW values greater than 13.0 (Coulter normal range 9.5-11.5) were found in 33 out of 40 patients with sickel cell anemia, whereas only 15 out of 40 patients with anemia of other causes had increased RDW. The RDW value was the only parameter that discriminated between the two groups--MCV and hemoglobin showing no significant difference. PMID:7223771

  1. Management of Iron-Deficiency Anemia in Inflammatory Bowel Disease

    PubMed Central

    Nielsen, Ole Haagen; Ainsworth, Mark; Coskun, Mehmet; Weiss, Günter

    2015-01-01

    Abstract Anemia is the most frequent complication of inflammatory bowel disease (IBD), but anemia, mostly due to iron deficiency, has long been neglected in these patients. The aim was to briefly present the pathophysiology, followed by a balanced overview of the different forms of iron replacement available, and subsequently, to perform a systematic review of studies performed in the last decade on the treatment of iron-deficiency anemia in IBD. Given that intravenous therapies have been introduced in the last decade, a systematic review performed in PubMed, EMBASE, the Cochrane Library, and the websites of WHO, FDA, and EMA covered prospective trials investigating the management of iron-deficiency anemia in IBD published since 2004. A total of 632 articles were reviewed, and 13 articles (2906 patients) with unique content were included. In general, oral supplementation in iron-deficiency anemia should be administered with a target to restore/replenish the iron stores and the hemoglobin level in a suitable way. However, in patients with IBD flares and inadequate responses to or side effects with oral preparations, intravenous iron supplementation is the therapy of choice. Neither oral nor intravenous therapy seems to exacerbate the clinical course of IBD, and intravenous iron therapy can be administered even in active disease stages and concomitantly with biologics. In conclusion, because many physicians are in doubt as to how to manage anemia and iron deficiency in IBD, there is a clear need for the implementation of evidence-based recommendations on this matter. Based on the data presented, oral iron therapy should be preferred for patients with quiescent disease stages and trivial iron deficiency anemia unless such patients are intolerant or have an inadequate response, whereas intravenous iron supplementation may be of advantage in patients with aggravated anemia or flares of IBD because inflammation hampers intestinal absorption of iron. PMID:26061331

  2. [Megaloblastic-vitamin B12 deficiency anemia in childhood].

    PubMed

    Mtvarelidze, Z G; Kvezereli-Kopadze, A N; Kvezereli-Kopadze, M A

    2009-05-01

    Megaloblastic anemias are basically caused by vitamin B(12) and/or folic acid deficiency. Childhood vitamin B(12) deficiency is extremely rare. There are congenital and acquired forms of vitamin B(12)-deficiency anemias. The article captures findings of 10 year observation of 3 patients with Imerslund-Gräsbeck Syndrome (congenital chronic megaloblastic anemia with proteinuria), in which the diagnosis was established by us in early childhood and due to correct treatment and prevention complete clinical-laboratory remission is kept so far. We have also observed rare case of acquired megaloblastic anemia - 14 years old vegetarian patient, who was diagnosed with vitamin B(12)-deficiency anemia based on history, clinical and para-clinical data. It was caused by strict vegetarianism of the patient. Therefore first of all the diet was corrected. In 5 days of specific treatment with vitamin B(12) "reticulocyte crisis" was manifested (proving the correctness of diagnosis and treatment) and complete clinical-hematological remission was achieved in 2 weeks. The given cases are interesting as megaloblastic anemias in childhood are both rare and difficult to diagnose. In such cases timely diagnosis, treatment and prevention tactics should be based on cause-and-effect relation of disease. PMID:19556642

  3. Anemia in Inflammatory Bowel Disease: An Under-Estimated Problem?

    PubMed Central

    Rogler, Gerhard; Vavricka, Stephan

    2015-01-01

    Anemia is one of the most frequent complications and/or extraintestinal manifestations of inflammatory bowel disease (IBD). Iron deficiency is the most important cause of anemia in Crohn’s disease and ulcerative colitis patients. Iron deficiency even without anemia may impact the quality of life of our IBD patients. In the last 10?years, the understanding of the pathology of iron-deficiency anemia and “anemia of chronic diseases” has increased; new diagnostic tools have been developed and new therapeutic strategies have been discussed. Hepcidin has been identified to be a central regulator of iron absorption from the intestine and of iron plasma levels. Hepcidin is regulated by iron deficiency but also as an acute phase protein by pro-inflammatory mediators such as interleukin-6. Innovative diagnostic tools have not been introduced in clinical routine or are not available for routine diagnostics. As iron substitution therapy is easy these days with a preference for intravenous substitution, the impact of differential diagnosis of anemia in IBD patients is underestimated. PMID:25646159

  4. [Management of anemia in patients with inflammatory bowel disease].

    PubMed

    Kim, Kyeong Ok

    2015-03-01

    Anemia is one of the commonest extraintestinal manifestations of inflammatory bowel disease (IBD). The pathogenesis of anemia in IBD is complex but iron deficiency combined with inflammation is the most common factor related to the development of anemia. However, other causes such as vitamin B12 and folate deficiency, hemolysis, myelosuppression and drug also should not be overlooked. In addition to ferritin, inflammatory markers and new biochemical parameters such as hepcidin and ferritin index are being tested as diagnostic a tool. First step for treatment is disease activity control and iron supplementation. Although oral iron is widely used, intravenous iron therapy should be considered in patients who are intolerant to oral iron therapy, have severe and refractory anemia or are in active disease state. Recently, new intravenous iron formulations have been introduced and due to their safety and easy usage, they have become the standard treatment modality for managing anemia in IBD. Erythropoietin and transfusion can be considered in specific situations. Vitamin B12 and folate supplementation is also important in patients who are deficient of these micronutrients. Since anemia in IBD patients could significantly influence the disease outcome, further studies and standard guideline for IBD are needed. PMID:25797377

  5. [History of the therapy of pernicious anemia].

    PubMed

    Jeney, András

    2013-11-01

    Increased blood cell regeneration in exsanguinated experimental animals treated either with liver or with aqueous liver extracts was reported by Whipple and by Jeney and Jobling, respectively. These findings stimulated Minot and Murphy to provide evidence for the efficacy of liver against anaemia in clinical studies. After oral administration of liver (45-50 g per day) for 45 patients with anaemia perniciosa improvement of the hematological status was demonstrated. Consequently, for proving the therapeutic value of liver therapy Whipple, Minot and Murphy received Nobel price in 1934. The isolation of the antianemic factor from the liver has been succeeded in 1948 and designated as vitamin B12. At the same time Lucy Wills applied yeast for the treatment of pregnant women with anemia related to undernourishment. The conclusions of this study inspired the discovery of folate. The detailed investigation of the mode of action of vitamin B12 and folate enriched our knowledge in the area of pathophysiology and extended the clinical application of these two drugs. PMID:24161600

  6. Diamond Blackfan anemia: ribosomal proteins going rogue.

    PubMed

    Ellis, Steven R; Gleizes, Pierre-Emmanuel

    2011-04-01

    Within the decade following the demonstration that mutations in the RPS19 gene can lead to Diamond-Blackfan anemia (DBA), this disease has become a paradigm for an emerging group of pathologies linked to defects in ribosome biogenesis. DBA patients exhibit abnormal pre-rRNA maturation patterns and the majority bear mutations in one of several ribosomal protein genes that encode structural components of the ribosome essential for the correct assembly of the ribosomal subunits. Extensive study of the most frequently mutated gene, RPS19, has shown that mutations prevent the assembly of the ribosomal protein into forming pre-ribosomal particles. This defect in ribosome production triggers nucleolar stress pathways, the activation of which appears to be central to pathophysiological mechanisms. Why mutations in ribosomal protein genes so strongly and specifically affect erythropoiesis in DBA remains a challenging question, especially given the fact that defects in genes encoding nonstructural ribosome biogenesis factors have been shown to cause diseases other than DBA. A major problem in understanding the pathophysiological mechanisms in DBA remains the lack of a suitable animal model. Despite this, considerable strides have been made over that past few years demonstrating that several factors involved in the synthesis of ribosomes are targets of disease-causing mutations. PMID:21435505

  7. Overcoming reprogramming resistance of Fanconi anemia cells.

    PubMed

    Müller, Lars U W; Milsom, Michael D; Harris, Chad E; Vyas, Rutesh; Brumme, Kristina M; Parmar, Kalindi; Moreau, Lisa A; Schambach, Axel; Park, In-Hyun; London, Wendy B; Strait, Kelly; Schlaeger, Thorsten; Devine, Alexander L; Grassman, Elke; D'Andrea, Alan; Daley, George Q; Williams, David A

    2012-06-01

    Fanconi anemia (FA) is a recessive syndrome characterized by progressive fatal BM failure and chromosomal instability. FA cells have inactivating mutations in a signaling pathway that is critical for maintaining genomic integrity and protecting cells from the DNA damage caused by cross-linking agents. Transgenic expression of the implicated genes corrects the phenotype of hematopoietic cells, but previous attempts at gene therapy have failed largely because of inadequate numbers of hematopoietic stem cells available for gene correction. Induced pluripotent stem cells (iPSCs) constitute an alternate source of autologous cells that are amenable to ex vivo expansion, genetic correction, and molecular characterization. In the present study, we demonstrate that reprogramming leads to activation of the FA pathway, increased DNA double-strand breaks, and senescence. We also demonstrate that defects in the FA DNA-repair pathway decrease the reprogramming efficiency of murine and human primary cells. FA pathway complementation reduces senescence and restores the reprogramming efficiency of somatic FA cells to normal levels. Disease-specific iPSCs derived in this fashion maintain a normal karyotype and are capable of hematopoietic differentiation. These data define the role of the FA pathway in reprogramming and provide a strategy for future translational applications of patient-specific FA iPSCs. PMID:22371882

  8. VACTERL-H Association and Fanconi Anemia.

    PubMed

    Alter, B P; Rosenberg, P S

    2013-02-01

    Patients with Fanconi anemia (FA) often have birth defects that suggest the diagnosis of VATER association. A review of 2,245 cases of FA reported in the literature from 1927 to 2012 identified 108 cases with at least 3 of the defining features of VATER association; only 29 had been so noted by the authors. The FA VATER signature was the significantly higher frequency of renal and limb (radial and/or thumb) anomalies (93% of cases had both) compared with less than 30% of VATER patients; the presence of one or both of these birth defects should lead to testing for FA. The relative frequencies of the genotypes of the patients with FA VATER were strikingly different from those expected from the general FA population; only 19% were FANCA, while 21% were FANCB, 14% FANCD1/BRCA2, and 12% FANCD2. Consistent with their genotypes, those with the FA VATER phenotype had a worse prognosis than FA patients with milder phenotypes, with shorter median survival and earlier onset of malignancies. The early identification of FA patients among infants with VATER association should lead to earlier more proactive management, such as cancer surveillance and genetic counseling. PMID:23653579

  9. Optimizing hydroxyurea therapy for sickle cell anemia.

    PubMed

    Ware, Russell E

    2015-12-01

    Hydroxyurea has proven efficacy in numerous clinical trials as a disease-modifying treatment for patients with sickle cell anemia (SCA) but is currently under-used in clinical practice. To improve the effectiveness of hydroxyurea therapy, efforts should be directed toward broadening the clinical treatment indications, optimizing the daily dosage, and emphasizing the benefits of early and extended treatment. Here, various issues related to hydroxyurea treatment are discussed, focusing on both published evidence and clinical experience. Specific guidance is provided regarding important but potentially unfamiliar aspects of hydroxyurea treatment for SCA, such as escalating to maximum tolerated dose, treating in the setting of cerebrovascular disease, switching from chronic transfusions to hydroxyurea, and using serial phlebotomy to alleviate iron overload. Future research directions to optimize hydroxyurea therapy are also discussed, including personalized dosing based on pharmacokinetic modeling, prediction of fetal hemoglobin responses based on pharmacogenomics, and the risks and benefits of hydroxyurea for non-SCA genotypes and during pregnancy/lactation. Another critical initiative is the introduction of hydroxyurea safely and effectively into global regions that have a high disease burden of SCA but limited resources, such as sub-Saharan Africa, the Caribbean, and India. Final considerations emphasize the long-term goal of optimizing hydroxyurea therapy, which is to help treatment become accepted as standard of care for all patients with SCA. PMID:26637755

  10. Impairment of Bone Health in Pediatric Patients with Hemolytic Anemia

    PubMed Central

    Schündeln, Michael M.; Goretzki, Sarah C.; Hauffa, Pia K.; Wieland, Regina; Bauer, Jens; Baeder, Lena; Eggert, Angelika; Hauffa, Berthold P.; Grasemann, Corinna

    2014-01-01

    Introduction Sickle cell anemia and thalassemia result in impaired bone health in both adults and youths. Children with other types of chronic hemolytic anemia may also display impaired bone health. Study Design To assess bone health in pediatric patients with chronic hemolytic anemia, a cross-sectional study was conducted involving 45 patients with different forms of hemolytic anemia (i.e., 17 homozygous sickle cell disease and 14 hereditary spherocytosis patients). Biochemical, radiographic and anamnestic parameters of bone health were assessed. Results Vitamin D deficiency with 25 OH-vitamin D serum levels below 20 ng/ml was a common finding (80.5%) in this cohort. Bone pain was present in 31% of patients. Analysis of RANKL, osteoprotegerin (OPG) and osteocalcin levels indicated an alteration in bone modeling with significantly elevated RANKL/OPG ratios (control: 0.08+0.07; patients: 0.26+0.2, P?=?0.0007). Osteocalcin levels were found to be lower in patients compared with healthy controls (68.5+39.0 ng/ml vs. 118.0+36.6 ng/ml, P?=?0.0001). Multiple stepwise regression analysis revealed a significant (P<0.025) influence of LDH (partial r2?=?0.29), diagnosis of hemolytic anemia (partial r2?=?0.05) and age (partial r2?=?0.03) on osteocalcin levels. Patients with homozygous sickle cell anemia were more frequently and more severely affected by impaired bone health than patients with hereditary spherocytosis. Conclusion Bone health is impaired in pediatric patients with hemolytic anemia. In addition to endocrine alterations, an imbalance in the RANKL/OPG system and low levels of osteocalcin may contribute to this impairment. PMID:25299063

  11. Infections and inequalities: anemia in AIDS, the disadvantages of poverty

    PubMed Central

    Gonzalez, Lucia; Seley, Celeste; Martorano, Julieta; Garcia-Moreno, Isabella; Troncoso, Alcides

    2012-01-01

    Objective To study anemia in AIDS patients and its relation with socioeconomic, employment status and educational levels. Methods A total number of 442 patients who visited the Infectious Diseases University Hospital in Buenos Aires, Argentina were included in the study. Patients were dividied into two groups, i.e. one with anemia and the other without anemia. Anemia epidemiology and its relationship with educational level, housing, job situation, monthly income, total daily caloric intake and weekly intake of meat were evaluated. Results Anemia was found in 228 patients (54%). Comparing patients with or without anemia, a statistically significant difference was found (P<0.000?1) in those whose highest educational level reached was primary school, who lived in a precarious home, who had no stable job or were unable to work, whose income was less than 30 dollars per month, whose meat consumption was less than twice a week or received less than 8?000 calories per day. Conclusions The high prevalence of anemia found in poor patients with AIDS suggests that poverty increases the risk to suffer from this hematological complication. The relationship between economic development policies and AIDS is complex. Our results seem to point to the fact that AIDS epidemic may affect economic development and in turn be affected by it. If we consider that AIDS affects the economically active adult population, despite recent medical progress it usually brings about fatal consequences, especially within the poorest sectors of society where the disease reduces the average life expectancy, increases health care demand and tends to exacerbate poverty and iniquity. PMID:23569955

  12. Erythro-megakaryocytic transcription factors associated with hereditary anemia

    PubMed Central

    Weiss, Mitchell J.

    2014-01-01

    Most heritable anemias are caused by mutations in genes encoding globins, red blood cell (RBC) membrane proteins, or enzymes in the glycolytic and hexose monophosphate shunt pathways. A less common class of genetic anemia is caused by mutations that alter the functions of erythroid transcription factors (TFs). Many TF mutations associated with heritable anemia cause truncations or amino acid substitutions, resulting in the production of functionally altered proteins. Characterization of these mutant proteins has provided insights into mechanisms of gene expression, hematopoietic development, and human disease. Mutations within promoter or enhancer regions that disrupt TF binding to essential erythroid genes also cause anemia and heritable variations in RBC traits, such as fetal hemoglobin content. Defining the latter may have important clinical implications for de-repressing fetal hemoglobin synthesis to treat sickle cell anemia and ? thalassemia. Functionally important alterations in genes encoding TFs or their cognate cis elements are likely to occur more frequently than currently appreciated, a hypothesis that will soon be tested through ongoing genome-wide association studies and the rapidly expanding use of global genome sequencing for human diagnostics. Findings obtained through such studies of RBCs and associated diseases are likely generalizable to many human diseases and quantitative traits. PMID:24652993

  13. Iron deficiency anemia in patients with inflammatory bowel disease

    PubMed Central

    Goldberg, Neil D

    2013-01-01

    Iron deficiency anemia is the most common form of anemia worldwide, caused by poor iron intake, chronic blood loss, or impaired absorption. Patients with inflammatory bowel disease (IBD) are increasingly likely to have iron deficiency anemia, with an estimated prevalence of 36%–76%. Detection of iron deficiency is problematic as outward signs and symptoms are not always present. Iron deficiency can have a significant impact on a patient’s quality of life, necessitating prompt management and treatment. Effective treatment includes identifying and treating the underlying cause and initiating iron replacement therapy with either oral or intravenous iron. Numerous formulations for oral iron are available, with ferrous fumarate, sulfate, and gluconate being the most commonly prescribed. Available intravenous formulations include iron dextran, iron sucrose, ferric gluconate, and ferumoxytol. Low-molecular weight iron dextran and iron sucrose have been shown to be safe, efficacious, and effective in a host of gastrointestinal disorders. Ferumoxytol is the newest US Food and Drug Administration-approved intravenous iron therapy, indicated for iron deficiency anemia in adults with chronic kidney disease. Ferumoxytol is also being investigated in Phase 3 studies for the treatment of iron deficiency anemia in patients without chronic kidney disease, including subgroups with IBD. A review of the efficacy and safety of iron replacement in IBD, therapeutic considerations, and recommendations for the practicing gastroenterologist are presented. PMID:23766655

  14. What is wrong with Fanconi anemia cells?

    PubMed Central

    Cantor, Sharon B; Brosh, Robert M

    2014-01-01

    Figuring out what is wrong in Fanconi anemia (FA) patient cells is critical to understanding the contributions of the FA pathway to DNA repair and tumor suppression. Although FA patients exhibit a wide range of disease manifestation as well as severity (asymptomatic to congenital abnormalities, bone marrow failure, and cancer), cells from FA patients share underlying defects in their ability to process DNA lesions that interfere with DNA replication. In particular, FA cells are very sensitive to agents that induce DNA interstrand crosslinks (ICLs). The cause of this pronounced ICL sensitivity is not fully understood, but has been linked to the aberrant activation of DNA damage repair proteins, checkpoints and pathways. Thus, regulation of these responses through coordination of repair processing at stalled replication forks is an essential function of the FA pathway. Here, we briefly summarize some of the aberrant DNA damage responses contributing to defects in FA cells, and detail the newly-identified relationship between FA and the mismatch repair protein, MSH2. Understanding the contribution of MSH2 and/or other proteins to the replication problem in FA cells will be key to assessing therapeutic options to improve the health of FA patients. Moreover, loss of these factors, if linked to improved replication, could be a key event in the progression of FA cells to cancer cells. Likewise, loss of these factors could synergize to enhance tumorigenesis or confer chemoresistance in tumors defective in FA-BRCA pathway proteins and provide a basis for biomarkers for disease progression and response. PMID:25486020

  15. Treatment of Anemia in Patients with Heart Disease: A Clinical Practice Guideline

    MedlinePLUS

    ... of Anemia in Patients With Heart Disease: A Clinical Practice Guideline From the American College of Physicians ... of Anemia in Patients With Heart Disease: A Clinical Practice Guideline From the American College of Physicians.” ...

  16. High prevalence of iron deficiency and anemia in female military recruits.

    PubMed

    Dubnov, Gal; Foldes, A Joseph; Mann, Gideon; Magazanik, Abraham; Siderer, Moshe; Constantini, Naama

    2006-09-01

    Iron deficiency anemia has long been known to impair physical and mental performance. Iron deficiency itself, even without anemia, may also cause such an effect. Similar to female athletes, women in active military units may have increased risks for iron deficiency and its detrimental effects. Female recruits were screened for anemia and iron store status, and a questionnaire on lifestyle habits and menstruation was completed. Iron depletion (serum ferritin level of <20 microg/L) was found for 77% of study participants. Iron deficiency (ferritin level of <12 microg/L and transferrin saturation of <15%) was found for 15% of study participants. Anemia was found for 24% of subjects, and iron deficiency anemia was found for 10% of subjects. High prevalence of iron depletion, iron deficiency, anemia, and iron deficiency anemia was found among female recruits intended for active military duty. Therefore, a recommendation can be made to screen such female recruits for anemia and iron stores. PMID:17036608

  17. Inborn anemias in mice. Progress report, 1 August 1979-15 July 1980

    SciTech Connect

    Bernstein, S.E.; Russell, E.S.

    1980-08-01

    Four macrocytic anemias, four hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, an ..cap alpha..-thalassemia, and a new target-cell anemia are under investigation in mice. Each of these blood dyscrasias is caused by the action of a unique mutant gene, which determines the structure of different intracellular molecules, and thus controls a different metabolic process. Thus the wide range of different hereditary anemias has considerable potential for uncovering many different aspects of hemopoietic homeostatic mechanisms in the mouse. Each anemia is studied through: (a) characterization of peripheral blood values; (b) determinations of radiosensitivity under a variety of conditions; (c) measurements of iron metabolism and heme synthesis; (d) histological and biochemical study of blood-forming tissue; (e) functional tests of the stem cell component; (f) examination of responses to erythroid stimuli; and (g) transplantation of tissue between individuals of differently affected genotypes.

  18. Oral and Dental Considerations in Management of Sickle Cell Anemia

    PubMed Central

    2015-01-01

    ABSTRACT Sickle cell anemia is a genetic disease that primarily affects the black population. This anemia is due to a homozygous state of the abnormal hemoglobin S. An alteration occurs on the DNA molecule involving the substitution of the amino acid valine for glutamic acid at the sixth position on the beta polypeptide chain. This biochemical variation on the DNA molecule creates a physiological change that causes sickle-shaped red blood cells to be produced. The sickle-shaped cells are the result of the hemoglobin S being deoxygenated. This case report presents a case of 16-year-old female with sickle cell disease and its dental management. How to cite this article: Acharya S. Oral and Dental Considerations in Management of Sickle Cell Anemia. Int J Clin Pediatr Dent 2015;8(2):141-144. PMID:26379384

  19. [Floppy baby with macrocytic anemia and vegan mother].

    PubMed

    Schlapbach, L J; Schütz, B; Nuoffer, J M; Brekenfeld, C; Müller, G; Fluri, S

    2007-08-29

    We report the case of a 7 month-old girl that presented with acute anemia, generalized muscular hypotonia and failure to thrive. Laboratory evaluation revealed cobalamin deficiency, due to a vegan diet of the mother. The clinical triad of an acquired floppy baby syndrome with megaloblastic anemia and failure to thrive is pathognomic for infantile cobalamin deficiency. Neurological abnormalities are often irreversible and may be associated with delayed myelinization in the MRI. A normal cobalamin level in maternal serum and absence of anemia do not exclude subclinical deficiency. If cobalamin deficiency is suspected, e.g. in pregnant women on vegan diet, urinary methylmalonic acid excretion and plasma homocysteine levels should be determined and cobalamin substitution should be started at an early stage to avoid potentially irreversible damage of the fetus. PMID:18293883

  20. Laboratory testing for cobalamin deficiency in megaloblastic anemia.

    PubMed

    Oberley, Matthew J; Yang, David T

    2013-06-01

    Cobalamin (vitamin B12) deficiency is a common cause of megaloblastic anemia in Western populations. Laboratory evaluation of megaloblastic anemia frequently includes the assessment of patient cobalamin and folate status. Current total serum cobalamin measurements are performed in the clinical laboratory with competitive binding luminescence assays, whose results may not always accurately reflect actual cobalamin stores. Surrogate markers of cobalamin deficiency such as methylmalonic acid and homocysteine have been utilized to improve diagnostic accuracy; however, the specificity of these tests by themselves is rather low. Measurement of the biologically active fraction of cobalamin, holotranscobalamin, has been proposed as a replacement for current total cobalamin assays. Although holotranscobalamin measurements appear to have slighter better sensitivity, the specificity of this assay remains to be determined. The relative merits and demerits of commonly available methods to assess cobalamin deficiency in patients with suspected megaloblastic anemia are discussed. PMID:23423840

  1. Iron Deficiency Anemia: A Common and Curable Disease

    PubMed Central

    Miller, Jeffery L.

    2013-01-01

    Iron deficiency anemia arises when the balance of iron intake, iron stores, and the body's loss of iron are insufficient to fully support production of erythrocytes. Iron deficiency anemia rarely causes death, but the impact on human health is significant. In the developed world, this disease is easily identified and treated, but frequently overlooked by physicians. In contrast, it is a health problem that affects major portions of the population in underdeveloped countries. Overall, the prevention and successful treatment for iron deficiency anemia remains woefully insufficient worldwide, especially among underprivileged women and children. Here, clinical and laboratory features of the disease are discussed, and then focus is placed on relevant economic, environmental, infectious, and genetic factors that converge among global populations. PMID:23613366

  2. Chronic Anemia and the Role of the Infusion Therapy Nurse.

    PubMed

    Betcher, Jeffrey; Van Ryan, Velvet; Mikhael, Joseph

    2015-01-01

    Chronic anemia develops over a course of weeks to months and is usually mild to moderate in nature. It is important to understand the etiology of the reduced number of circulating red blood cells to treat the anemia appropriately. Diagnosis is dependent on patient history and laboratory findings, such as complete blood counts, iron studies, a peripheral smear, and occasionally, a bone marrow biopsy. Treatment modalities frequently administered by infusion therapy nurses include treatment of the underlying chronic disease, replacement of deficiencies (iron, vitamin B12, folate, or erythropoietin), or transfusion of red blood cells. Infusion therapy nurses play a vital role in the assessment and delivery of medication therapy to patients with chronic anemia. PMID:26339940

  3. Prevalence of HIV and anemia among pregnant women

    PubMed Central

    Oladeinde, Bankole Henry; Phil, Richard Omoregie M.; Olley, Mitsan; Anunibe, Joshua A.

    2011-01-01

    Background: Human immunodeficiency virus (HIV) prevalence is high among rural dwellers and pregnant women. Aims: This study aims to determine the prevalence of HIV and anemia among pregnant women attending antenatal clinic in rural community of Okada, Edo State, Nigeria. Patients and Methods: Anticoagulated blood and sera samples were obtained from 480 women consisting of 292 pregnant and 188 non-pregnant women. Antibodies to HIV were detected in the sera samples and hemoglobin concentration of the anticoagulated blood specimens were determined using standard techniques. Anemia was defined as hemoglobin concentration <11g/dl for pregnant women and <12g/dl for non-pregnant women. Results: Pregnancy was not a risk factor for acquiring HIV infection (pregnant vs. non-pregnant: 10.2% vs. 13.8%; OR=0.713, 95% CI=0.407, 1.259, P = 0.247). The prevalence of HIV was significantly (P = 0.005 and P = 0.025) higher in the age group 10-20 years and 21 – 30 years among pregnant and non-pregnant women respectively. Pregnancy was a risk factor for acquiring anemia (OR=1.717, 95% CI=1.179, 2.500, P = 0.006). Only the age of pregnant women significantly (P = 0.004) affected the prevalence of anemia inversely. Conclusion: The prevalence of HIV and anemia among pregnant women were 10.2% and 49.3% respectively. Pregnancy was associated with anemia. Interventions by appropriate agencies are advocated to reduce associated sequelae. PMID:22363076

  4. Red blood cell vesiculation in hereditary hemolytic anemia

    PubMed Central

    Alaarg, Amr; Schiffelers, Raymond M.; van Solinge, Wouter W.; van Wijk, Richard

    2013-01-01

    Hereditary hemolytic anemia encompasses a heterogeneous group of anemias characterized by decreased red blood cell survival because of inherited membrane, enzyme, or hemoglobin disorders. Affected red blood cells are more fragile, less deformable, and more susceptible to shear stress and oxidative damage, and show increased vesiculation. Red blood cells, as essentially all cells, constitutively release phospholipid extracellular vesicles in vivo and in vitro in a process known as vesiculation. These extracellular vesicles comprise a heterogeneous group of vesicles of different sizes and intracellular origins. They are described in literature as exosomes if they originate from multi-vesicular bodies, or as microvesicles when formed by a one-step budding process directly from the plasma membrane. Extracellular vesicles contain a multitude of bioactive molecules that are implicated in intercellular communication and in different biological and pathophysiological processes. Mature red blood cells release in principle only microvesicles. In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting in shedding microvesicles of different compositions and concentrations. Despite extensive research into red blood cell biochemistry and physiology, little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated pathophysiological role is incompletely assessed. In this review, we discuss recent progress in understanding extracellular vesicles biology, with focus on red blood cell vesiculation. Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with red blood cell deformability and vesiculation. Integrating bio-analytical findings on abnormalities of red blood cells and their microvesicles will be critical for a better understanding of the pathophysiology of hereditary hemolytic anemias. PMID:24379786

  5. Noninvasive Molecular Screening for Oral Precancer in Fanconi Anemia Patients.

    PubMed

    Smetsers, Stephanie E; Velleuer, Eunike; Dietrich, Ralf; Wu, Thijs; Brink, Arjen; Buijze, Marijke; Deeg, Dorly J H; Soulier, Jean; Leemans, C René; Braakhuis, Boudewijn J M; Brakenhoff, Ruud H

    2015-11-01

    LOH at chromosome arms 3p, 9p, 11q, and 17p are well-established oncogenetic aberrations in oral precancerous lesions and promising biomarkers to monitor the development of oral cancer. Noninvasive LOH screening of brushed oral cells is a preferable method for precancer detection in patients at increased risk for head and neck squamous cell carcinoma (HNSCC), such as patients with Fanconi anemia. We determined the prevalence of LOH in brushed samples of the oral epithelium of 141 patients with Fanconi anemia and 144 aged subjects, and studied the association between LOH and HNSCC. LOH was present in 14 (9.9%) nontransplanted patients with Fanconi anemia, whereas LOH was not detected in a low-risk group (n = 50, >58 years, nonsmoking/nonalcohol history) and a group with somewhat increased HNSCC risk (n = 94, >58 years, heavy smoking/excessive alcohol use); Fisher exact test, P = 0.023 and P = 0.001, respectively. Most frequent genetic alteration was LOH at 9p. Age was a significant predictor of LOH (OR, 1.13, P = 0.001). Five patients with Fanconi anemia developed HNSCC during the study at a median age of 39.6 years (range, 24.8-53.7). LOH was significantly associated with HNSCC (Fisher exact test, P = 0.000). Unexpectedly, the LOH assay could not be used for transplanted patients with Fanconi anemia because donor DNA in brushed oral epithelium, most likely from donor leukocytes present in the oral cavity, disturbed the analysis. Noninvasive screening using a LOH assay on brushed samples of the oral epithelium has a promising outlook in patients with Fanconi anemia. However, assays need to be adapted in case of stem cell transplantation, because of contaminating donor DNA. Cancer Prev Res; 8(11); 1102-11. ©2015 AACR. PMID:26276748

  6. Association of human papillomavirus with Fanconi anemia promotes carcinogenesis in Fanconi anemia patients.

    PubMed

    Liu, Guang Bin; Chen, Jiezhong; Wu, Zhan He; Zhao, Kong-Nan

    2015-11-01

    Fanconi anemia (FA) is a rare recessive disorder associated with chromosomal fragility. FA patients are at very high risk of cancers, especially head and neck squamous cell carcinomas and squamous cell carcinomas caused by infection of human papillomaviruses (HPVs). By integrating into the host genome, HPV oncogenes E6 and E7 drive the genomic instability to promote DNA damage and gene mutations necessary for carcinogenesis in FA patients. Furthermore, E6 and E7 oncoproteins not only inhibit p53 and retinoblastoma but also impair the FANC/BRCA signaling pathway to prevent DNA damage repair and alter multiple signals including cell-cycle checkpoints, telomere function, cell proliferation, and interference of the host immune system leading to cancer development in FA patients. In this review, we summarize recent advances in unraveling the molecular mechanisms of FA susceptibility to HPV-induced cancers, which facilitate rational preventive and therapeutic strategies. Copyright © 2015 John Wiley & Sons, Ltd. PMID:25776992

  7. Coomb’s Positive Hemolytic Anemia Due To Insect Bite

    PubMed Central

    2007-01-01

    Hemolytic anemia has occasionally been described in association with insect bites. The venom of certain spiders, bees and wasps, and some snakes can rarely cause intravascular hemolysis. We report here a case of Coombs positive hemolytic anemia due to an insect bite. These bites often pose diagnostic challenges and when associated with systemic manifestations necessitate early intervention. This communication reviews the clinico- hematologic spectrum in these cases and also emphasizes the need to capture the insect as identification would help in early diagnosis and management. PMID:22400097

  8. Severe anemia associated with Mycoplasma wenyonii infection in a mature cow

    PubMed Central

    Genova, Suzanne G.; Streeter, Robert N.; Velguth, Karen E.; Snider, Timothy A.; Kocan, Katherine M.; Simpson, Katharine M.

    2011-01-01

    The clinical findings, diagnostic tests, and treatment of clinical anemia in a mature Angus cow infected with the hemoplasma Mycoplasma wenyonii are described. Mycoplasma wenyonii has been previously reported to cause clinical anemia in young or splenectomized cattle; however, infection has not been associated with severe anemia in mature animals. PMID:22379205

  9. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... anemia. 250.201 Section 250.201 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND... Drugs and Foods § 250.201 Preparations for the treatment of pernicious anemia. (a) The ninth announcement of the Anti-anemia Preparations Advisory Board of the United States Pharmacopeia is concerned...

  10. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... anemia. 250.201 Section 250.201 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND... Drugs and Foods § 250.201 Preparations for the treatment of pernicious anemia. (a) The ninth announcement of the Anti-anemia Preparations Advisory Board of the United States Pharmacopeia is concerned...

  11. Assessment of Anemia Knowledge, Attitudes and Behaviors among Pregnant Women in Sierra Leone

    ERIC Educational Resources Information Center

    M'Cormack, Fredanna A. D.; Drolet, Judy C.

    2012-01-01

    Introduction: Iron deficiency anemia prevalence of pregnant Sierra Leone women currently is reported to be 59.7%. Anemia is considered to be a direct cause of 3-7% of maternal deaths and an indirect cause of 20-40% of maternal deaths. This study explores knowledge, attitudes, and behaviors of urban pregnant Sierra Leone women regarding anemia.…

  12. PREDICTING THE EFFECTIVENESS OF HYDROXYUREA IN INDIVIDUAL SICKLE CELL ANEMIA PATIENTS

    E-print Network

    Valafar, Faramarz

    1 PREDICTING THE EFFECTIVENESS OF HYDROXYUREA IN INDIVIDUAL SICKLE CELL ANEMIA PATIENTS Homayoun patients with sickle cell anemia. The study described in this paper was undertaken to develop the ability therapy in patients with sickle cell anemia. Adult hemoglobin (HbA) is a tetrameric protein composed

  13. From a Dry Bone to a Genetic Portrait: A Case Study of Sickle Cell Anemia

    E-print Network

    From a Dry Bone to a Genetic Portrait: A Case Study of Sickle Cell Anemia MARINA FAERMAN,1* ALMUT identification; Y chromosome polymorphic markers; sickle cell anemia ABSTRACT The potential and reliability sample, which represented a documented case of sickle cell anemia. -globin gene sequences obtained from

  14. Mechanisms of Homogeneous Nucleation of Polymers of Sickle Cell Anemia Hemoglobin in Deoxy State

    E-print Network

    Vekilov, Peter

    Mechanisms of Homogeneous Nucleation of Polymers of Sickle Cell Anemia Hemoglobin in Deoxy State, TX 77204-4004, USA The primary pathogenic event of sickle cell anemia is the polymerization reserved. Keywords: sickle cell anemia; hemoglobin S polymerization; fiber nucleation; homogeneous

  15. Severe malarial anemia: innate immunity and pathogenesis.

    PubMed

    Perkins, Douglas J; Were, Tom; Davenport, Gregory C; Kempaiah, Prakasha; Hittner, James B; Ong'echa, John Michael

    2011-01-01

    Greater than 80% of malaria-related mortality occurs in sub-Saharan Africa due to infections with Plasmodium falciparum. The majority of P. falciparum-related mortality occurs in immune-naïve infants and young children, accounting for 18% of all deaths before five years of age. Clinical manifestations of severe falciparum malaria vary according to transmission intensity and typically present as one or more life-threatening complications, including: hyperparasitemia; hypoglycemia; cerebral malaria; severe malarial anemia (SMA); and respiratory distress. In holoendemic transmission areas, SMA is the primary clinical manifestation of severe childhood malaria, with cerebral malaria occurring only in rare cases. Mortality rates from SMA can exceed 30% in pediatric populations residing in holoendemic transmission areas. Since the vast majority of the morbidity and mortality occurs in immune-naïve African children less than five years of age, with SMA as the primary manifestation of severe disease, this review will focus primarily on the innate immune mechanisms that govern malaria pathogenesis in this group of individuals. The pathophysiological processes that contribute to SMA involve direct and indirect destruction of parasitized and non-parasitized red blood cells (RBCs), inefficient and/or suppression of erythropoiesis, and dyserythropoiesis. While all of these causal etiologies may contribute to reduced hemoglobin (Hb) concentrations in malaria-infected individuals, data from our laboratory and others suggest that SMA in immune-naïve children is characterized by a reduced erythropoietic response. One important cause of impaired erythroid responses in children with SMA is dysregulation in the innate immune response. Phagocytosis of malarial pigment hemozoin (Hz) by monocytes, macrophages, and neutrophils is a central factor for promoting dysregulation in innate inflammatory mediators. As such, the role of P. falciparum-derived Hz (PfHz) in mediating suppression of erythropoiesis through its ability to cause dysregulation in pro- and anti-inflammatory cytokines, growth factors, chemokines, and effector molecules is discussed in detail. An improved understanding of the etiological basis of suppression of erythropoietic responses in children with SMA may offer the much needed therapeutic alternatives for control of this global disease burden. PMID:22110393

  16. Identification of de Novo Fanconi Anemia in Younger Patients With Newly Diagnosed Acute Myeloid Leukemia

    ClinicalTrials.gov

    2015-11-05

    Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Fanconi Anemia; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  17. Thorotrast-Associated Anemia and Bone Marrow Hypoplasia

    PubMed Central

    Summers, Diane E.; Chung, E. B.

    1986-01-01

    Two patients with chronic anemia and bone marrow hypoplasia secondary to Thorotrast deposition are described. In one case thorium dioxide was identified by histoautoradiography, scanning electron microscopy, and x-ray spectrometry. ImagesFigure 1Figure 2Figure 3Figure 4Figure 5Figure 6Figure 7Figure 8 PMID:3806691

  18. Anemia, Heart Failure and Evidence-Based Clinical management

    PubMed Central

    Pereira, Camila Alves; Roscani, Meliza Goi; Zanati, Silméia Garcia; Matsubara, Beatriz Bojikian

    2013-01-01

    Anemia is a prevalent comorbidity and marker of a poorer prognosis in patients with heart failure (HF). Its clinical relevance, as well as its pathophysiology and the clinical management of these patients are important subjects in the specialized literature. In the present review, we describe the current concepts on the pathophysiology of anemia in HF, its diagnostic criteria, and the recommendations for iron supplementation. Also, we make a critical analysis of the major studies showing evidences on the benefits of this supplementation. The four main components of anemia are addressed: chronic disease, dilutional, "renal" and malabsorption. In patients with HF, the diagnostic criteria are the same as those used in the general population: serum ferritin levels lower than 30 mcg/L in patients without kidney diseases and lower than 100 mcg/L or serum ferritin levels between 100-299 mcg/L with transferring saturation lower than 20% in patients with chronic kidney diseases. Finally, the therapeutic possibilities for anemia in this specific patient population are discussed. PMID:23917508

  19. Short Report Menstruation Does Not Cause Anemia: Endometrial Thickness

    E-print Network

    Lummaa, Virpi

    was measured by transvaginal ultrasound in the luteal phase of the menstrual cycle, and their red blood cell a reasonable proxy for menstrual blood loss in normal women. Twenty-six healthy women from the Mogielica Human-deficiency anemia in women include: when menstrual blood loss exceeds 80 ml a month (Janssen et al., 1998), a long

  20. Behavior of Infants with Iron-Deficiency Anemia.

    ERIC Educational Resources Information Center

    Lozoff, Betsy; And Others

    1998-01-01

    Compared behavior of 52 Costa Rican 12- to 23-month-olds with iron-deficiency anemia to that of 139 infants with better iron status. Found that iron-deficient infants maintained closer contact with caregivers; showed less pleasure and playfulness; were more wary, hesitant, and easily tired; made fewer attempts at test items; and attended less to…

  1. Perioperative anemia management in colorectal cancer patients: A pragmatic approach

    PubMed Central

    Muñoz, Manuel; Gómez-Ramírez, Susana; Martín-Montañez, Elisa; Auerbach, Michael

    2014-01-01

    Anemia, usually due to iron deficiency, is highly prevalent among patients with colorectal cancer. Inflammatory cytokines lead to iron restricted erythropoiesis further decreasing iron availability and impairing iron utilization. Preoperative anemia predicts for decreased survival. Allogeneic blood transfusion is widely used to correct anemia and is associated with poorer surgical outcomes, increased post-operative nosocomial infections, longer hospital stays, increased rates of cancer recurrence and perioperative venous thromboembolism. Infections are more likely to occur in those with low preoperative serum ferritin level compared to those with normal levels. A multidisciplinary, multimodal, individualized strategy, collectively termed Patient Blood Management, minimizes or eliminates allogeneic blood transfusion. This includes restrictive transfusion policy, thromboprophylaxis and anemia management to improve outcomes. Normalization of preoperative hemoglobin levels is a World Health Organization recommendation. Iron repletion should be routinely ordered when indicated. Oral iron is poorly tolerated with low adherence based on published evidence. Intravenous iron is safe and effective but is frequently avoided due to misinformation and misinterpretation concerning the incidence and clinical nature of minor infusion reactions. Serious adverse events with intravenous iron are extremely rare. Newer formulations allow complete replacement dosing in 15-60 min markedly facilitating care. Erythropoiesis stimulating agents may improve response rates. A multidisciplinary, multimodal, individualized strategy, collectively termed Patient Blood Management used to minimize or eliminate allogeneic blood transfusion is indicated to improve outcomes. PMID:24587673

  2. Studies of the pathogenesis of anemia of inflammation: erythrocyte survival

    SciTech Connect

    Weiss, D.J.; Krehbiel, J.D.

    1983-10-01

    Erythrocyte survival was investigated in healthy cats and in cats with sterile abscesses. Erythrocyte survival time in cats with sterile abscesses was found to be significantly reduced. The erythrocyte destruction appeared to be the major factor in the early stages of anemia of inflammation.

  3. Anemia among Pediatric Critical Care Survivors: Prevalence and Resolution.

    PubMed

    Ngo, Quang N; Matsui, Doreen M; Singh, Ram N; Zelcer, Shayna; Kornecki, Alik

    2013-01-01

    To determine the incidence of anemia among pediatric critical care survivors and to determine whether it resolves within 6 months of discharge. Design. A prospective observational study. Patients with anemia upon discharge from the pediatric critical care unit (PCCU) underwent in hospital and post hospital discharge followup (4-6 months) for hemoglobin (Hb) levels. Setting. A medical-surgical PCCU in a tertiary care center. Patients. Patients aged 28 days to 18 years who were treated in the PCCU for over 24 hours. Measurements and Main Results. 94 (24%) out of 392 eligible patients were anemic at time of discharge. Patients with anemia were older, median 8.0?yrs [(IQR 1.0-14.4) versus 3.2?yrs (IQR 0.65-9.9) (P < 0.001)], and had higher PeLOD [median 11 (IQR 10-12) versus 1.5 (1-4) (P < 0.001)], and PRISM [median 5 (IQR 2-11) versus 3 (IQR 0-6) (P < 0.001)] scores. The Hb level normalized in 32% of patients before discharge from hospital. Of the 28 patients who completed followup, all had normalization of their Hb in the absence of medical intervention. Conclusions. Anemia is not common among patients discharged from the PCCU and recovers spontaneously within 4-6 months. PMID:23509619

  4. Intravenous ferric carboxymaltose for the treatment of iron deficiency anemia

    PubMed Central

    Friedrisch, João Ricardo; Cançado, Rodolfo Delfini

    2015-01-01

    Nutritional iron deficiency anemia is the most common deficiency disorder, affecting more than two billion people worldwide. Oral iron supplementation is usually the first choice for the treatment of iron deficiency anemia, but in many conditions, oral iron is less than ideal mainly because of gastrointestinal adverse events and the long course needed to treat the disease and replenish body iron stores. Intravenous iron compounds consist of an iron oxyhydroxide core, which is surrounded by a carbohydrate shell made of polymers such as dextran, sucrose or gluconate. The first iron product for intravenous use was the high molecular weight iron dextran. However, dextran-containing intravenous iron preparations are associated with an elevated risk of anaphylactic reactions, which made physicians reluctant to use intravenous iron for the treatment of iron deficiency anemia over many years. Intravenous ferric carboxymaltose is a stable complex with the advantage of being non-dextran-containing and a very low immunogenic potential and therefore not predisposed to anaphylactic reactions. Its properties permit the administration of large doses (15 mg/kg; maximum of 1000 mg/infusion) in a single and rapid session (15-minute infusion) without the requirement of a test dose. The purpose of this review is to discuss some pertinent issues in relation to the history, pharmacology, administration, efficacy, and safety profile of ferric carboxymaltose in the treatment of patients with iron deficiency anemia. PMID:26670403

  5. Pharmacodynamic model for chemotherapy-induced anemia in rats.

    PubMed

    Woo, Sukyung; Krzyzanski, Wojciech; Jusko, William J

    2008-06-01

    Anticancer agents often cause bone marrow toxicity resulting in progressive anemia which may influence the therapeutic effects of erythropoietic-stimulating agents. The objective of this study was to develop a pharmacodynamic (PD) model to describe chemotherapy-induced anemia in rats. Anemia was induced in male Wistar rats with a single intravenous (i.v.) injection of 60 mg/kg carboplatin. Hematological responses including reticulocytes, red blood cells (RBC), hemoglobin, and endogenous rat erythropoietin (EPO) were measured for up to 4 weeks. A catenary, lifespan-based, indirect response model served as a basic PD model to represent erythroid cellular populations in the bone marrow and blood involved in erythropoiesis. The model assumed that actively proliferating progenitor cells in the bone marrow are sensitive to anti-cancer agents and subject to an irreversible removal process. The removal rate of the target cells is proportional to drug activity concentrations and the cell numbers. An additional RBC loss from the circulation resulting from thrombocytopenia was described by a first-order process. The turnover process of rat EPO and EPO-mediated feedback inhibition mechanism regulated by hemoglobin changes were incorporated. Reticulocyte counts decreased rapidly and reached a nadir by day 3 after administration of carboplatin and returned to the baseline by day 13. This was followed by a gradual increase and the rebound peak occurred at about day 15. The hemoglobin nadir was approximately 9 g/dl observed at about 11-13 days compared to its normal value of 13 g/dl and hemoglobin returned to the baseline by day 30. The increase in endogenous rat EPO mirrored inversely hemoglobin changes and the maximum increase was observed soon after the hemoglobin nadir. The carboplatin-treated rats exhibited progressive anemia. The proposed model adequately described the time course of hematological changes after carboplatin in rats and can be a useful tool to explore potential strategies for the management of anemia caused by chemotherapy. PMID:17891399

  6. Pharmacodynamic model for chemotherapy-induced anemia in rats

    PubMed Central

    Woo, Sukyung; Krzyzanski, Wojciech

    2009-01-01

    Anticancer agents often cause bone marrow toxicity resulting in progressive anemia which may influence the therapeutic effects of erythropoietic-stimulating agents. The objective of this study was to develop a pharmacodynamic (PD) model to describe chemotherapy-induced anemia in rats. Anemia was induced in male Wistar rats with a single intravenous (i.v.) injection of 60 mg/kg carboplatin. Hematological responses including reticulocytes, red blood cells (RBC), hemoglobin, and endogenous rat erythropoietin (EPO) were measured for up to 4 weeks. A catenary, lifespan-based, indirect response model served as a basic PD model to represent erythroid cellular populations in the bone marrow and blood involved in erythropoiesis. The model assumed that actively proliferating progenitor cells in the bone marrow are sensitive to anti-cancer agents and subject to an irreversible removal process. The removal rate of the target cells is proportional to drug activity concentrations and the cell numbers. An additional RBC loss from the circulation resulting from thrombocytopenia was described by a first-order process. The turnover process of rat EPO and EPO-mediated feedback inhibition mechanism regulated by hemoglobin changes were incorporated. Reticulocyte counts decreased rapidly and reached a nadir by day 3 after administration of carboplatin and returned to the baseline by day 13. This was followed by a gradual increase and the rebound peak occurred at about day 15. The hemoglobin nadir was approximately 9 g/dl observed at about 11–13 days compared to its normal value of 13 g/dl and hemoglobin returned to the baseline by day 30. The increase in endogenous rat EPO mirrored inversely hemoglobin changes and the maximum increase was observed soon after the hemoglobin nadir. The carboplatin-treated rats exhibited progressive anemia. The proposed model adequately described the time course of hematological changes after carboplatin in rats and can be a useful tool to explore potential strategies for the management of anemia caused by chemotherapy. PMID:17891399

  7. Management of Anemia in Children Receiving Chronic Peritoneal Dialysis

    PubMed Central

    Borzych-Duzalka, Dagmara; Bilginer, Yelda; Ha, Il Soo; Bak, Mustafa; Rees, Lesley; Cano, Francisco; Munarriz, Reyner Loza; Chua, Annabelle; Pesle, Silvia; Emre, Sevinc; Urzykowska, Agnieszka; Quiroz, Lily; Ruscasso, Javier Darío; White, Colin; Pape, Lars; Ramela, Virginia; Printza, Nikoleta; Vogel, Andrea; Kuzmanovska, Dafina; Simkova, Eva; Müller-Wiefel, Dirk E.; Sander, Anja; Warady, Bradley A.

    2013-01-01

    Little information exists regarding the efficacy, modifiers, and outcomes of anemia management in children with CKD or ESRD. We assessed practices, effectors, and outcomes of anemia management in 1394 pediatric patients undergoing peritoneal dialysis (PD) who were prospectively followed in 30 countries. We noted that 25% of patients had hemoglobin levels below target (<10 g/dl or <9.5 g/dl in children older or younger than 2 years, respectively), with significant regional variation; levels were highest in North America and Europe and lowest in Asia and Turkey. Low hemoglobin levels were associated with low urine output, low serum albumin, high parathyroid hormone, high ferritin, and the use of bioincompatible PD fluid. Erythropoiesis-stimulating agents (ESAs) were prescribed to 92% of patients, and neither the type of ESA nor the dosing interval appeared to affect efficacy. The weekly ESA dose inversely correlated with age when scaled to weight but did not correlate with age when normalized to body surface area. ESA sensitivity was positively associated with residual diuresis and serum albumin and inversely associated with serum parathyroid hormone and ferritin. The prevalence of hypertension and left ventricular hypertrophy increased with the degree of anemia. Patient survival was positively associated with achieved hemoglobin and serum albumin and was inversely associated with ESA dose. In conclusion, control of anemia in children receiving long-term PD varies by region. ESA requirements are independent of age when dose is scaled to body surface area, and ESA resistance is associated with inflammation, fluid retention, and hyperparathyroidism. Anemia and high ESA dose requirements independently predict mortality. PMID:23471197

  8. Dhatrilauha: Right choice for iron deficiency anemia in pregnancy

    PubMed Central

    Roy, Anuradha; Dwivedi, Manjari

    2014-01-01

    Background: Anemia in pregnancy is multi-factorial. Iron deficiency anemia (IDA) is the most common one. Major cause is increased demand of iron during pregnancy. In Ayurveda, under Pandu-Roga the features of anemia are described. It is characterized by Vaivarnyata or Varnanasha (change/destruction in normal color of the body), a disorder of Pitta vitiation. Ayurvedic management is an effective way of curing anemia in general by a large number of Lauha preparations of which Dhatrilauha has been used widely for centuries. Aim: To evaluate the effect of Dhatrilauha in the management of IDA based on the scientific parameters among pregnant patients. Materials and Methods: A total of 58 cases were selected by simple randomized sampling method as per inclusion criteria of pregnant women between 4th and 7th months of pregnancy with a clinical diagnosis and laboratory confirmation of IDA. Dhatrilauha 500 mg in two divided doses after food with normal potable water were given for 45 days with three follow-ups, each of 15 days intervals. Final assessment was done after completion of 45 days and results were statistically analyzed by using Cochran's Q-test and Student's t-test. Results: Dhatrilauha showed statistically significant (P < 0.01) improvement in the majority of sign-symptoms and objective parameters such as weakness, fatigue, palpitation, effort intolerance, breathlessness, heartburn, pallor, constipation, hemoglobin, red blood cells (RBC), hematocrit, mean corpuscular volume, mean corpuscular hemoglobin concentration, RBC distribution width, mean platelet volume, serum iron, and total iron binding capacity. Conclusion: Dhatrilauha possesses many fold effectiveness in anemia (IDA), which was evidenced with the significant results obtained in the majority of parameters in this study. PMID:25972720

  9. Las Vegas

    NASA Technical Reports Server (NTRS)

    2001-01-01

    This image of Las Vegas, NV was acquired on August, 2000 and covers an area 42 km (25 miles) wide and 30 km (18 miles) long. The image displays three bands of the reflected visible and infrared wavelength region, with a spatial resolution of 15 m. McCarran International Airport to the south and Nellis Air Force Base to the NE are the two major airports visible. Golf courses appear as bright red areas of worms. The first settlement in Las Vegas (which is Spanish for The Meadows) was recorded back in the early 1850s when the Mormon church, headed by Brigham Young, sent a mission of 30 men to construct a fort and teach agriculture to the Indians. Las Vegas became a city in 1905 when the railroad announced this city was to be a major division point. Prior to legalized gambling in 1931, Las Vegas was developing as an agricultural area. Las Vegas' fame as a resort area became prominent after World War II. The image is located at 36.1 degrees north latitude and 115.1 degrees west longitude.

    The U.S. science team is located at NASA's Jet Propulsion Laboratory, Pasadena, Calif. The Terra mission is part of NASA's Science Mission Directorate.

  10. [Cytogenetics study of chromosomal instability in Fanconi anemia in Tunisia].

    PubMed

    Chbili, Chahra; Bouraoui, Sana; El Ghezal, Hatem; Saad, Ali

    2014-01-01

    Cells of Fanconi anemia (FA) is characterized by cellular and chromosomal hypersensitivity to DNA cross-linking agents. We tested mitomycin C at 25 ng/mL, 40 ng/mL and diepoxybutane 0.1 ?g/mL in order to select a reference technique in the diagnosis of AF. We also studied the mitotic segregation of sex chromosomes. Our study focused on 73 patients with aplastic anemia suspecting AF and also 17 healthy controls. Thus, the MMC 25 ng/mL with a sensitivity to detect AF cells. DEB, by contrast, showed better specificity. FISH study shows the presence of instability in the AF mitotic cells. The association for routine diagnosis of MMC 25 ng/mL and DEB 0.1 mcg/mL, and the search for a mitotic instability by FISH is the best way of cytogenetic diagnosis of AF. PMID:25119806

  11. A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia

    PubMed Central

    Crowley, Moira A.; Mollan, Todd L.; Abdulmalik, Osheisa Y.; Butler, Andrew D.; Goodwin, Emily F.; Sarkar, Arindam; Stolle, Catherine A.; Gow, Andrew J.; Olson, John S.; Weiss, Mitchell J.

    2013-01-01

    SUMMARY Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal G ?-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. This new mutation modifies the ligand-binding pocket of fetal hemoglobin by means of two mechanisms. First, the relatively large side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit and the rate at which it does so. Second, the mutant methionine is converted to aspartic acid post-translationally, probably through oxidative mechanisms. The presence of this polar amino acid in the heme pocket is predicted to enhance hemoglobin denaturation, causing anemia. PMID:21561349

  12. A hemoglobin variant associated with neonatal cyanosis and anemia.

    PubMed

    Crowley, Moira A; Mollan, Todd L; Abdulmalik, Osheisa Y; Butler, Andrew D; Goodwin, Emily F; Sarkar, Arindam; Stolle, Catherine A; Gow, Andrew J; Olson, John S; Weiss, Mitchell J

    2011-05-12

    Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal G?-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. This new mutation modifies the ligand-binding pocket of fetal hemoglobin by means of two mechanisms. First, the relatively large side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit and the rate at which it does so. Second, the mutant methionine is converted to aspartic acid post-translationally, probably through oxidative mechanisms. The presence of this polar amino acid in the heme pocket is predicted to enhance hemoglobin denaturation, causing anemia. PMID:21561349

  13. Seizure disorders and anemia associated with chronic borax intoxication.

    PubMed

    Gordon, A S; Prichard, J S; Freedman, M H

    1973-03-17

    During the course of investigation of two infants with seizure disorders it was discovered that both had been given large amounts of a preparation of borax and honey which resulted in chronic borate intoxication. In one child a profound anemia developed as well. The symptoms of chronic borate intoxication are different from those of the acute poisoning with which we are more familiar. The borax and honey preparations are highly dangerous and should no longer be manufactured or distributed for sale. PMID:4691106

  14. Immune Hemolytic Anemia: A Report of Two Cases

    PubMed Central

    Kaur, Paramjit; Basu, Sabita; Kaur, Ravneet; Kaur, Gagandeep

    2009-01-01

    The transfusion-medicine specialists and physicians are often in a difficult situation when the patient has severe worsening anemia and all the blood is mismatched. This situation can arise in patients with red cell autoantibodies or alloantibodies due to previous transfusions. We report two cases of immune hemolysis – one due to warm auto antibodies and the second due to alloimmunization from multiple transfusions. PMID:21938245

  15. Aplastic anemia and membranous nephropathy induced by intravenous mercury

    PubMed Central

    Priya, N.; Nagaprabhu, V. N.; Kurian, G.; Seethalakshmi, N.; Rao, G. G.; Unni, V. N.

    2012-01-01

    Self-injection of mercury can be life-threatening. We report a case of attempted suicide by self-intravenous injection of elemental mercury. The patient suffered from two side effects : membranous nephropathy and aplastic anemia. She was treated and the systemic effects of mercury were reversed after 4 years. The toxicology of mercury, mechanisms of renal and systemic toxicities, and the various therapeutic measures for mercury poisoning are discussed. PMID:23439491

  16. Update of the human and mouse Fanconi anemia genes.

    PubMed

    Dong, Hongbin; Nebert, Daniel W; Bruford, Elspeth A; Thompson, David C; Joenje, Hans; Vasiliou, Vasilis

    2015-01-01

    Fanconi anemia (FA) is a recessively inherited disease manifesting developmental abnormalities, bone marrow failure, and increased risk of malignancies. Whereas FA has been studied for nearly 90 years, only in the last 20 years have increasing numbers of genes been implicated in the pathogenesis associated with this genetic disease. To date, 19 genes have been identified that encode Fanconi anemia complementation group proteins, all of which are named or aliased, using the root symbol "FANC." Fanconi anemia subtype (FANC) proteins function in a common DNA repair pathway called "the FA pathway," which is essential for maintaining genomic integrity. The various FANC mutant proteins contribute to distinct steps associated with FA pathogenesis. Herein, we provide a review update of the 19 human FANC and their mouse orthologs, an evolutionary perspective on the FANC genes, and the functional significance of the FA DNA repair pathway in association with clinical disorders. This is an example of a set of genes--known to exist in vertebrates, invertebrates, plants, and yeast--that are grouped together on the basis of shared biochemical and physiological functions, rather than evolutionary phylogeny, and have been named on this basis by the HUGO Gene Nomenclature Committee (HGNC). PMID:26596371

  17. Aplastic anemia and dental implant rehabilitation: a clinical trial

    PubMed Central

    Kim, Jun-Hwa; Shet, Uttom Kumar; Kim, Byeong-Guk; Kim, Myung-In; Kook, Min-Suk; Oh, Hee-Kyun; Ryu, Sun-Youl; Park, Hong-Ju

    2015-01-01

    The purpose of this study was to investigate implant-supported restoration as a technique for restoring missing teeth in patients with aplastic anemia. Recurrent bleeding from wound sites leads to persistent release of iron in the tissue. Excessive iron in tissue is related to clinical findings, including fibrosis, poor wound healing, and high level of angiogenesis, which are possible etiological factors of reduced osseointegration. A 44-year-old female patient with aplastic anemia was treated with multiple endosseous implants throughout the mandible and in the posterior region of the maxilla. After 14 implants were placed, radiological and clinical parameters were assessed during the follow-up period. Marginal bone did not change significantly during the follow-up period. The fine trabecular bone in intimate contact and enclosing the implant fixture was sufficient for successful osseointegration. None of the 14 implants were associated with compilations during the seven-year experimental period. This study suggests that dental implant procedures are a safe and reliable treatment option for restoration of missing dentition in patients with aplastic anemia. PMID:26568929

  18. Myocardial mechanics and energetics in experimental iron-deficiency anemia.

    PubMed

    Levine, H J; Wolk, M J; Keefe, J F; Bing, O H; Snow, J A; Messer, J V

    1977-05-01

    The effect of iron-deficiency anemia on myocardial mechanics and energetics was studied in 10 anesthetized bealge puppies. Nine littermates served as controls. Left ventricular/body weight ratio was increased 14.2% (P less than 0.05) and cardiac index 36.5% (P less than 0.02) in the anemic puppies. Heart rate, mean systolic pressure, myocardial lactate extraction coefficient, and lactic dehydrogenase isozymes were similar in both groups. Contractile state measured in vivo (pressure-velocity curves) and in isolated muscles (isotonic force-velocity curves) was virtually identical in the littermate groups. Despite markedly increased coronary blood flow in the anemia animals, oxygen consumption per unit weight of myocardium was the same in both groups. Contractile element efficiency averaged 18.3% in 10 adult mongrel dogs studied in a similar fashion and was 27.1% and 39.8% in the normal puppies and anemic puppies, respectively. The oxygen cost of internal or force-generating work was similar among the three groups of dogs. It is concluded that the volume load produced by iron-deficiency anemia was associated with a normal contractile state, normal unit myocardial oxygen consumption, no evidence of chronic anaerobiosis, and a high contractile element efficiency, perhaps as a consequence of increased diastolic fiber stretch. PMID:140609

  19. Neocytolysis contributes to the anemia of renal disease

    NASA Technical Reports Server (NTRS)

    Rice, L.; Alfrey, C. P.; Driscoll, T.; Whitley, C. E.; Hachey, D. L.; Suki, W.

    1999-01-01

    Neocytolysis is a recently described physiological process affecting the selective hemolysis of young red blood cells in circumstances of plethora. Erythropoietin (EPO) depression appears to initiate the process, providing the rationale to investigate its contributions to the anemia of renal disease. When EPO therapy was withheld, four of five stable hemodialysis patients showed chromium 51 (51Cr)-red cell survival patterns indicative of neocytolysis; red cell survival was short in the first 9 days, then normalized. Two of these four patients received oral 13C-glycine and 15N-glycine, and there was a suggestion of pathological isotope enrichment of stool porphyrins when EPO therapy was held, again supporting selective hemolysis of newly released red cells that take up the isotope (one patient had chronic hemolysis indicated by isotope studies of blood and stool). Thus, neocytolysis can contribute to the anemia of renal disease and explain some unresolved issues about such anemia. One implication is the prediction that intravenous bolus EPO therapy is metabolically and economically inefficient compared with lower doses administered more frequently subcutaneously.

  20. Neocytolysis Contributes to the Anemia of Renal Disease

    NASA Technical Reports Server (NTRS)

    Rice, Lawrence; Alfrey, Clarence P.; Driscoll, Theda; Whitley, Carl E.; Hachey, David; Suki, Wadi

    1997-01-01

    Neocytolysis is a recently described physiologic process effecting selective hemolysis of young red blood cells in circumstances of plethora. Erythropoietin depression appears to initiate the process, providing rationale to investigate its contributions to the anemia of renal disease. When erythropoietin therapy was withheld, four of five stable hemodialysis patients demonstrated Cr-51 red cell survival patterns indicative of neocytolysis; red cell survival was short in the first 9 days, then normalized. Two of these patients received oral (13)C-glycine and (15)N-glycine and showed pathologic enrichment of stool porphyrins by the most recently ingested isotope when EPO therapy was held. This confirms selective hemolysis of newly-released red cells. (One patient had chronic hemolysis by isotope studies of blood and stool.) Thus, neocytolysis can contribute to the anemia of renal disease and explains some unresolved issues about such anemia. One implication is the prediction that intravenous bolus erythropoietin therapy is metabolically and economically inefficient compared to lower doses given more frequently subcutaneously.

  1. Aplastic anemia and dental implant rehabilitation: a clinical trial.

    PubMed

    Kim, Jun-Hwa; Shet, Uttom Kumar; Kim, Byeong-Guk; Kim, Myung-In; Kook, Min-Suk; Oh, Hee-Kyun; Ryu, Sun-Youl; Park, Hong-Ju; Jung, Seunggon

    2015-10-01

    The purpose of this study was to investigate implant-supported restoration as a technique for restoring missing teeth in patients with aplastic anemia. Recurrent bleeding from wound sites leads to persistent release of iron in the tissue. Excessive iron in tissue is related to clinical findings, including fibrosis, poor wound healing, and high level of angiogenesis, which are possible etiological factors of reduced osseointegration. A 44-year-old female patient with aplastic anemia was treated with multiple endosseous implants throughout the mandible and in the posterior region of the maxilla. After 14 implants were placed, radiological and clinical parameters were assessed during the follow-up period. Marginal bone did not change significantly during the follow-up period. The fine trabecular bone in intimate contact and enclosing the implant fixture was sufficient for successful osseointegration. None of the 14 implants were associated with compilations during the seven-year experimental period. This study suggests that dental implant procedures are a safe and reliable treatment option for restoration of missing dentition in patients with aplastic anemia. PMID:26568929

  2. Physical performance decrements in children with sickle cell anemia.

    PubMed Central

    Millis, R. M.; Baker, F. W.; Ertugrul, L.; Douglas, R. M.; Sexcius, L.

    1994-01-01

    Prior studies have suggested that cardiorespiratory dysfunction might contribute to the inability of children with sickle cell anemia to exercise competitively with normal children. This article presents a study designed to detect differences in performance of routine physical activities between groups of children having homozygous hemoglobin of sickle cell anemia (HbSS) and those with normal hemoglobin (HbAA). Thirty 10-year-old girls were divided into two equal groups exhibiting no significant differences in height, weight, or body surface area. Each subject performed 20-yd swimming, 40-yd swimming, and 100-yd "potato" foot-racing activities. Results showed significant performance decrements in HbSS compared with HbAA children. Performance decrements on the 20-yd swimming were found to be significantly greater than in either the 40-yd swimming or the 100-yd "potato" races. Assessment of 20-yd swim time as a fraction of 40-yd swim time showed diminished capacity of HbSS children for "burst activity." It is concluded that distance might play a role in the capacity of HbSS children to compete with HbAA children in racing activities such as those encountered in school-based physical education programs. Parents and educators should consider that short distance racing might exaggerate the inability of children with sickle cell anemia to compete with normal children. PMID:8169985

  3. The relation of maternal blood arsenic to anemia during pregnancy.

    PubMed

    Vigeh, Mohsen; Yokoyama, Kazuhito; Matsukawa, Takehisa; Shinohara, Atsuko; Ohtani, Katsumi

    2015-01-01

    To clarify the relationship of prenatal arsenic exposure to hemoglobin concentrations and anemia during pregnancy, a longitudinal study was conducted of 364 participants during early pregnancy from October 2006 to March 2011 in Tehran, Iran. Maternal whole blood (taken between 8-12 and 20-24 weeks of gestation, and at delivery) and umbilical cord blood samples were collected for arsenic measurement. The mean concentration of maternal blood arsenic in the first trimester of pregnancy was significantly lower in anemic women compared with non-anemic participants (mean ± SD: 12.4 ± 3.4 versus 14.8 ± 4.0 ?g/L, respectively, p < 0.001). Maternal whole blood arsenic levels in the first and third trimesters were significantly (p < 0.05) correlated with hemoglobin concentrations measured throughout gestation (r = 0.312, 0.424, and 0.183). Multiple logistic regression analysis demonstrated that increased maternal blood arsenic levels in the first trimester were significantly negatively associated to anemia during pregnancy (OR = 0.85, CI: 0.77-0.94, p < 0.01). The present study showed that prenatal blood arsenic exposure was not a risk factor for the occurrence of anemia. PMID:25402686

  4. Phytomedicines and Nutraceuticals: Alternative Therapeutics for Sickle Cell Anemia

    PubMed Central

    Imaga, Ngozi Awa

    2013-01-01

    Sickle cell anemia is a genetically inherited disease in which the “SS” individual possesses an abnormal beta globin gene. A single base substitution in the gene encoding the human ?-globin subunit results in replacement of ?6 glutamic acid by valine, leading to the devastating clinical manifestations of sickle cell disease. This substitution causes drastic reduction in the solubility of sickle cell hemoglobin (HbS) when deoxygenated. Under these conditions, the HbS molecules polymerize to form long crystalline intracellular mass of fibers which are responsible for the deformation of the biconcave disc shaped erythrocyte into a sickle shape. First-line clinical management of sickle cell anemia include, use of hydroxyurea, folic acid, amino acids supplementation, penicillinprophylaxis, and antimalarial prophylaxis to manage the condition and blood transfusions to stabilize the patient's hemoglobin level. These are quite expensive and have attendant risk factors. However, a bright ray of hope involving research into antisickling properties of medicinal plants has been rewarding. This alternative therapy using phytomedicines has proven to not only reduce crisis but also reverse sickling (in vitro). The immense benefits of phytomedicines and nutraceuticals used in the management of sickle cell anemia are discussed in this paper. PMID:23476125

  5. Immunosuppressive therapy for transplant-ineligible aplastic anemia patients.

    PubMed

    Schrezenmeier, Hubert; Körper, Sixten; Höchsmann, Britta

    2015-02-01

    Aplastic anemia is a rare life-threatening bone marrow failure that is characterized by bicytopenia or pancytopenia in the peripheral blood and a hypoplastic or aplastic bone marrow. The patients are at risk of infection and hemorrhage due to neutropenia and thrombocytopenia and suffer from symptoms of anemia. The main treatment approaches are allogeneic stem cell transplantation and immunosuppression. Here, we review current standard immunosuppression and the attempts that have been made in the past two decades to improve results: review of recent developments also reveals that sometimes not only the advent of new drugs, good ideas and well-designed clinical trials decide the progress in the field but also marketing considerations of pharmaceutical companies. Aplastic anemia experts unfortunately had to face the situation that efficient drugs were withdrawn simply for marketing considerations. We will discuss the current options and challenges in first-line treatment and management of relapsing and refractory patients with an emphasis on adult patients. Some promising new approaches are currently under investigation in prospective, randomized trials. PMID:25572607

  6. Anemia in Chronic obstructive pulmonary disease: Prevalence, pathogenesis, and potential impact

    PubMed Central

    Sarkar, Malay; Rajta, Puja Negi; Khatana, Jasmin

    2015-01-01

    Chronic obstructive pulmonary disease (COPD) is a common preventable and treatable lifestyle-related disease with high global prevalence. COPD is associated with significant morbidity and mortality worldwide. Comorbidities are important events in the natural history of the disease and have a negative effect on the morbidity and mortality of COPD patients. Cardiac diseases, lung cancer, osteoporosis, and depression are common comorbidities reported for COPD. Recently, anemia has been recognized as a frequent comorbidity in COPD patients. The prevalence of anemia in patients with COPD varies from 7.5% to 33%. Anemia of chronic disease (ACD) is probably the most common type of anemia associated with COPD. ACD is driven by COPD-mediated systemic inflammation. Anemia in COPD is associated with greater healthcare resource utilization, impaired quality of life, decreased survival, and a greater likelihood of hospitalization. We need large prospective studies to discern the association between anemia and COPD. PMID:25814799

  7. Anemia in Chronic obstructive pulmonary disease: Prevalence, pathogenesis, and potential impact.

    PubMed

    Sarkar, Malay; Rajta, Puja Negi; Khatana, Jasmin

    2015-01-01

    Chronic obstructive pulmonary disease (COPD) is a common preventable and treatable lifestyle-related disease with high global prevalence. COPD is associated with significant morbidity and mortality worldwide. Comorbidities are important events in the natural history of the disease and have a negative effect on the morbidity and mortality of COPD patients. Cardiac diseases, lung cancer, osteoporosis, and depression are common comorbidities reported for COPD. Recently, anemia has been recognized as a frequent comorbidity in COPD patients. The prevalence of anemia in patients with COPD varies from 7.5% to 33%. Anemia of chronic disease (ACD) is probably the most common type of anemia associated with COPD. ACD is driven by COPD-mediated systemic inflammation. Anemia in COPD is associated with greater healthcare resource utilization, impaired quality of life, decreased survival, and a greater likelihood of hospitalization. We need large prospective studies to discern the association between anemia and COPD. PMID:25814799

  8. Low Vitamin D Levels: Are Associated with Both Iron Deficiency and Anemia in Children and Adolescents?

    PubMed

    Kartal, Ömer; Kartal, Ay?e Tu?ba

    2015-01-01

    We have read, with great interest, the recent article by Lee. In this excellent study, the authors investigated the association between vitamin D deficiency and anemia in a nationally representative sample of Korean children and adolescents. They concluded that vitamin D deficiency is associated with increased risk of anemia, especially iron deficiency anemia, in healthy female children and adolescents. We appreciate and congratulate the authors for having addressed such an important issue. However, we have some concerns regarding this report, which we would like to share with you. As a result, further studies are needed for the association between vitamin D deficiency and anemia. Factors affecting Vitamin D status and anemia such as measurement method, nutrition, medications, and infections should be considered to conclude an association between vitamin D and anemia. Therefore, we think that considering these confounders would add value to this well-written article. PMID:25996780

  9. Erythrocyte Catalase Activity in More Frequent Microcytic Hypochromic Anemia: Beta-Thalassemia Trait and Iron Deficiency Anemia

    PubMed Central

    Lazarte, Sandra Stella; Mónaco, María Eugenia; Jimenez, Cecilia Laura; Ledesma Achem, Miryam Emilse; Terán, Magdalena María; Issé, Blanca Alicia

    2015-01-01

    Most common microcytic hypochromic anemias are iron deficiency anemia (IDA) and ?-thalassemia trait (BTT), in which oxidative stress (OxS) has an essential role. Catalase causes detoxification of H2O2 in cells, and it is an indispensable antioxidant enzyme. The study was designed to measure erythrocyte catalase activity (ECAT) in patients with IDA (10) or BTT (21), to relate it with thalassemia mutation type (?0 or ?+) and to compare it with normal subjects (67). Ninety-eight individuals were analyzed since September 2013 to June 2014 in Tucumán, Argentina. Total blood count, hemoglobin electrophoresis at alkaline pH, HbA2, catalase, and iron status were performed. ?-thalassemic mutations were determined by real-time PCR. Normal range for ECAT was 70,0–130,0?MU/L. ECAT was increased in 14% (3/21) of BTT subjects and decreased in 40% (4/10) of those with IDA. No significant difference (p = 0,245) was shown between normal and BTT groups, while between IDA and normal groups the difference was proved to be significant (p = 0,000). In ?0 and ?+ groups, no significant difference (p = 0,359) was observed. An altered ECAT was detected in IDA and BTT. These results will help to clarify how the catalase activity works in these anemia types. PMID:26527217

  10. Iron-refractory microcytic anemia as the presenting feature of unicentric Castleman disease in children.

    PubMed

    Chandrakasan, Shanmuganathan; Bakeer, Nihal; Mo, Jun Qin; Cost, Carrye; Quinn, Charles T

    2014-04-01

    Chronic, iron-refractory, microcytic anemia can be a diagnostic and therapeutic challenge. We report the cases of 2 children with occult, unicentric Castleman disease whose primary presenting feature was a chronic, unexplained, iron-refractory, microcytic anemia. Diagnosis was delayed because neither child had palpable lymphadenopathy and the lymphoproliferation was intra-abdominal. Surgical resection cured the anemia and the Castleman disease. A diagnostic clue to Castleman disease is an elevated concentration of interleukin-6 in blood, which causes anemia by inducing the expression of the iron-regulatory hormone hepcidin. PMID:24367988

  11. Prevalence of High Blood Pressure, Heart Disease, Thalassemia, Sickle-Cell Anemia, and Iron-Deficiency Anemia among the UAE Adolescent Population

    PubMed Central

    Barakat-Haddad, Caroline

    2013-01-01

    This study examined the prevalence of high blood pressure, heart disease, and medical diagnoses in relation to blood disorders, among 6,329 adolescent students (age 15 to 18 years) who reside in the United Arab Emirates (UAE). Findings indicated that the overall prevalence of high blood pressure and heart disease was 1.8% and 1.3%, respectively. Overall, the prevalence for thalassemia, sickle-cell anemia, and iron-deficiency anemia was 0.9%, 1.6%, and 5%, respectively. Bivariate analysis revealed statistically significant differences in the prevalence of high blood pressure among the local and expatriate adolescent population in the Emirate of Sharjah. Similarly, statistically significant differences in the prevalence of iron-deficiency anemia were observed among the local and expatriate population in Abu Dhabi city, the western region of Abu Dhabi, and Al-Ain. Multivariate analysis revealed the following significant predictors of high blood pressure: residing in proximity to industry, nonconventional substance abuse, and age when smoking or exposure to smoking began. Ethnicity was a significant predictor of heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia. In addition, predictors of thalassemia included gender (female) and participating in physical activity. Participants diagnosed with sickle-cell anemia and iron-deficiency anemia were more likely to experience different physical activities. PMID:23606864

  12. Anemia in Clinical Practice-Definition and Classification: Does Hemoglobin Change With Aging?

    PubMed

    Domenica Cappellini, M; Motta, Irene

    2015-10-01

    Anemia is a global public health problem affecting both developing and developed countries at all ages. According to the World Health Organization (WHO), anemia is defined as hemoglobin (Hb) levels <12.0 g/dL in women and <13.0 g/dL in men. However, normal Hb distribution varies not only with sex but also with ethnicity and physiological status. New lower limits of normal Hb values have been proposed, according to ethnicity, gender, and age. Anemia is often multifactorial and is not an independent phenomenon. For the classification and diagnosis the hematologic parameters, the underlying pathological mechanism and patient history should be taken into account. The aging of population, especially in Western countries, causes an increase of anemia in elderly people. In this population, anemia, recently defined by levels of Hb <12 g/dL in both sexes, is mostly of mild degree (10-12 g/dL). Understanding the pathophysiology of anemia in this population is important because it contributes to morbidity and mortality. In one third of the patients, anemia is due to nutritional deficiency, including iron, folate, or vitamin B12 deficiency; moreover, anemia of chronic disease accounts for about another third of the cases. However, in one third of patients anemia cannot be explained by an underlying disease or by a specific pathological process, and for this reason it is defined "unexplained anemia". Unexplained anemia might be due to the progressive resistance of bone marrow erythroid progenitors to erythropoietin, and a chronic subclinical pro-inflammatory state. PMID:26404438

  13. Iron deficiency anemia in captive ?alayan tapir calves (Tapirus indicus).

    PubMed

    Helmick, Kelly E; Milne, Victoria E

    2012-12-01

    Iron deficiency anemia (IDA) was diagnosed in two captive female neonatal Malayan tapirs (Tapirus indicus) at separate institutions. Both calves had unremarkable exams and normal blood parameters within the first 3 days of life. Microcytic hypochromic anemia (hematocrit, HCT= 20%; mean corpuscular volume, MCV = 32.8 fl; mean corpuscular hemoglobin, MCH = 10.5 pg) was diagnosed at day 66 of age in calf EPZ-1. Iron dextran (10 mg/kg i.m.) was administered at day 71. A normal HCT (33%) with microcytosis and hypochromasia (MCV = 33.0 fl; MCH = 11.7 pg) was identified at day 80. No further concerns were noted through 610 days of age. Microcytic hypochromic anemia (HCT = 16%; MCV = 38.4 fl; MCH = 13.3 pg; mean corpuscular hemoglobin concentration, MCHC= 34.6 g/dl) with thrombocytosis (platelets= 1018 10(3)/UL) and poikilocytosis was diagnosed at day 38 of age in calf WPZ-1 by samples obtained through operant conditioning. Iron dextran (10 mg/kg i.m.) was administered at day 40 and day 68. Improving hematocrit (32%) and low serum iron (45 micorg/dl) was identified at day 88; total iron binding capacity (TIBC; 438 microg/dl) and percentage saturation (10%) were also measured. No further concerns were noted through day 529 of age. Retrospective evaluation identified presumptive IDA in two male siblings of calf WPZ-1. One calf died at day 40 (iron = 40 microg/dl; TIBC = 482 microg/dl; percentage saturation = 4%) and another at day 72 (HCT = 11%; iron = 26 microg/dl; TIBC = 470 microg/dl; percentage saturation = 6%). Death in both calves was attributed to disseminated intravascular coagulation and bacterial septicemia. IDA can develop in Malayan tapirs between day 38 and day 72 of age and may be a significant precursor to bacterial septicemia and death in neonatal Malayan tapirs. PMID:23272357

  14. Iron deficiency and iron deficiency anemia in women.

    PubMed

    Coad, Jane; Pedley, Kevin

    2014-01-01

    Iron deficiency is one of the most common nutritional problems in the world and disproportionately affects women and children. Stages of iron deficiency can be characterized as mild deficiency where iron stores become depleted, marginal deficiency where the production of many iron-dependent proteins is compromised but hemoglobin levels are normal and iron deficiency anemia where synthesis of hemoglobin is decreased and oxygen transport to the tissues is reduced. Iron deficiency anemia is usually assessed by measuring hemoglobin levels but this approach lacks both specificity and sensitivity. Failure to identify and treat earlier stages of iron deficiency is concerning given the neurocognitive implications of iron deficiency without anemia. Most of the daily iron requirement is derived from recycling of senescent erythrocytes by macrophages; only 5-10 % comes from the diet. Iron absorption is affected by inhibitors and enhancers of iron absorption and by the physiological state. Inflammatory conditions, including obesity, can result in iron being retained in the enterocytes and macrophages causing hypoferremia as a strategic defense mechanism to restrict iron availability to pathogens. Premenopausal women usually have low iron status because of iron loss in menstrual blood. Conditions which further increase iron loss, compromise absorption or increase demand, such as frequent blood donation, gastrointestinal lesions, athletic activity and pregnancy, can exceed the capacity of the gastrointestinal tract to upregulate iron absorption. Women of reproductive age are at particularly high risk of iron deficiency and its consequences however there is a controversial argument that evolutionary pressures have resulted in an iron deficient phenotype which protects against infection. PMID:25083899

  15. FROM CELL TO SYMBOL: A BIOCULTURAL STUDY OF ANEMIA AND SUBJECTIVITY AMONG THE POQOMCHI' MAYA IN GUATEMALA

    E-print Network

    Herynk, James William

    2014-05-31

    Anemia afflicts nearly 2 billion people worldwide by reducing oxygen carrying capacity in the blood. Practitioners of Western biomedicine consider anemia to be an easily treatable ‘symptom’ that results from some other ...

  16. Seizure disorders and anemia associated with chronic borax intoxication

    PubMed Central

    Gordon, A. S.; Prichard, J. S.; Freedman, M. H.

    1973-01-01

    During the course of investigation of two infants with seizure disorders it was discovered that both had been given large amounts of a preparation of borax and honey which resulted in chronic borate intoxication. In one child a profound anemia developed as well. The symptoms of chronic borate intoxication are different from those of the acute poisoning with which we are more familiar. The borax and honey preparations are highly dangerous and should no longer be manufactured or distributed for sale. ImagesFIG. 1FIG. 2 PMID:4691106

  17. Diamond Blackfan Anemia: Diagnosis, Treatment and Molecular Pathogenesis

    PubMed Central

    Lipton, Jeffrey M.; Ellis, Steven R.

    2009-01-01

    Synopsis Diamond Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies and a predisposition to cancer. Faulty ribosome biogenesis, resulting in pro-apoptotic erythropoiesis leading to erythroid failure, is hypothesized to be the underlying defect. The genes identified to date that are mutated in DBA all encode ribosomal proteins associated with either the small (RPS) or large (RPL) subunit and in these cases haploinsufficiency gives rise to the disease. Extraordinarily robust laboratory and clinical investigations have recently led to demonstrable improvements in clinical care for patients with DBA. PMID:19327583

  18. Pearson syndrome in a Diamond-Blackfan anemia cohort.

    PubMed

    Alter, Blanche P

    2014-07-17

    In this issue of Blood, Gagne et al describe a cohort of 362 patients clinically classified as having Diamond-Blackfan anemia (DBA), in which 175 (48%) were found to have mutations and deletions in ribosomal protein genes or GATA1, and 8 of the remaining patients (2.2% overall) had mitochondrial gene deletions consistent with Pearson marrow-pancreas syndrome (PS). The authors propose that all patients with presumptive DBA should be tested for mitochondrial DNA (mtDNA) deletion during their initial genetic evaluation. PMID:25035146

  19. Successful creation of an anemia management algorithm for hemodialysis patients

    PubMed Central

    Hara, Kazuhiro; Mizutani, Yasuhide; Kodera, Hitoshi; Miyake, Masato; Yasuda, Yoshiki; Ohara, Sanae

    2015-01-01

    Introduction Several anemia guidelines for hemodialysis patients have recommended a target hemoglobin (Hb) range of 10–12 g/dL. However, maintaining Hb values continuously within a narrow target has been difficult, and there has been no generally accepted anemia management algorithm for hemodialysis patients. Methods In our study, we created an anemia management algorithm that considers the length of erythrocyte lifetimes, focuses on the combination of erythropoiesis-stimulating agent management and iron administration, and prevents iron deficiency and overload. Our algorithm established a target Hb range of 10–12 g/dL. Results We evaluated our algorithm in 49 patients for 6 months. The mean Hb values were approximately 11 g/dL during our study period. The percentage of patients in the target Hb range of 10–12 g/dL increased from 77.6% (38 of 49) at baseline to 85.7% (42 of 49) at 4–6 months. Throughout monthly regular blood tests during 1–6 months after we introduced our algorithm, Hb values remained within the target range in 55.1% (27 of 49) of patients. The standard deviation of Hb values significantly decreased at 5 and 6 months (P=0.013 and P=0.047, respectively; 1 g/dL at 0 month, 0.7 g/dL at 5 months, and 0.7 g/dL at 6 months). Our algorithm also succeeded in suppressing cumulative doses of iron (?800 mg) and decreasing the ferritin values significantly (P=0.011). There were no significant differences in erythropoiesis-stimulating agent doses between 0 and 6 months (P=0.357). Conclusion Our anemia management algorithm successfully increased the number of patients in the target Hb range, significantly decreased the Hb standard deviation, suppressed cumulative doses of iron, and decreased ferritin values. These results suggest a better prognosis for hemodialysis patients. Further studies are required to evaluate our algorithm. PMID:26150734

  20. Sickle-cell anemia: a case report and literature review.

    PubMed

    Cherry-Peppers, G; Davis, V; Atkinson, J C

    1992-01-01

    Sickle-cell disease is characterized by the pathophysiological features of chronic hemolytic anemia, vaso-occlusion resulting in ischemic tissue injury and painful episodes. The organs at greatest risk are the spleen, kidney and bone marrow, where oxygen tension is low and blood flow is diminished. However, disease may also present in the mandible. The oral manifestations and radiographic findings of a sickle cell patient with a left mandibular neuropathy, along with dental management guidelines are presented in the context of interdisciplinary care. PMID:1521400

  1. Autoimmune gastritis presenting as iron deficiency anemia in childhood

    PubMed Central

    Gonçalves, Cristina; Oliveira, Maria Emília; Palha, Ana M; Ferrão, Anabela; Morais, Anabela; Lopes, Ana Isabel

    2014-01-01

    AIM: To characterize clinical, laboratorial, and histological profile of pediatric autoimmune gastritis in the setting of unexplained iron deficiency anemia investigation. METHODS: A descriptive, observational study including pediatric patients with a diagnosis of autoimmune gastritis (positive parietal cell antibody and gastric corpus atrophy) established in a 6 year period (2006-2011) in the setting of refractory iron deficiency anemia (refractoriness to oral iron therapy for at least 6 mo and requirement for intravenous iron therapy) investigation, after exclusion of other potentially contributing causes of anemia. Helicobacter pylori (H. pylori) infection and anti-secretory therapy were also excluded. Data were retrospectively collected from clinical files, including: demographic data (age, gender, and ethnic background), past medical history, gastrointestinal symptoms, familial history, laboratorial evaluation (Hb, serum ferritin, serum gastrin, pepsinogen?I/ pepsinogen II, B12 vitamin, intrinsic factor autoantibodies, thyroid autoantibodies, and anti-transglutaminase antibodies), and endoscopic and histological findings (HE, Periodic Acid-Schiff/Alcian blue, gastrin, chromogranin A and immunochemistry analysis for CD3, CD20 and CD68). Descriptive statistical analysis was performed (mean, median, and standard deviation). RESULTS: We report a case-series concerning 3 girls and 2 boys with a mean age of 13.6 ± 2.8 years (3 Caucasian and 2 African). One girl had type?I?diabetes. Familial history was positive in 4/5 cases, respectively for autoimmune thyroiditis (2/5), sarcoidosis (1/5) and multiple myeloma (1/5). Laboratorial evaluation on admission included: Hb: 9.5 ± 0.7 g/dL; serum ferritin: 4.0 ± 0.9 ng/mL; serum gastrin: 393 ± 286 pg/mL; low pepsinogen?I/ pepsinogen II ratio in 1/5 patients; normal vitamin B12 levels (analyzed in 3 patients). Endoscopy findings included: duodenal nodularity (2/5) and gastric fold softening (2/5), and histological evaluation showed corpus atrophic gastritis with lymphocytic infiltration (5/5), patchy oxyntic gland mononuclear cell infiltration (5/5), intestinal and/or pseudo-pyloric metaplasia in corpus mucosa (4/5), and enterochromaffin cell hyperplasia (4/5). Immunochemistry for gastrin on corpus biopsies was negative in all cases. Duodenal histology was normal. All biopsies were negative for H. pylori (Giemsa staining and cultural examination). CONCLUSION: We highlight autoimmune gastritis as a diagnosis to be considered when investigating refractory iron deficiency anemia in children, particularly in the setting of a personal/familial history of autoimmune disease, as well as the diagnostic contribution of a careful immunohistological evaluation. PMID:25400463

  2. Anemia in cats with hemotropic mycoplasma infection: Retrospective evaluation of 23 cases (1996–2005)

    PubMed Central

    Nibblett, Belle Marie D.; Snead, Elisabeth C.; Waldner, Cheryl; Taylor, Susan M.; Jackson, Marion L.; Knorr, Laina M.

    2009-01-01

    This study summarizes the diagnostic findings from all anemic cats diagnosed with hemotropic mycoplasma (HM) infections at the Western College of Veterinary Medicine — Veterinary Teaching Hospital between 1996 and 2005. The objectives were to determine the frequency of HM-induced anemia among all cats presented with anemia during this period, the clinical findings and risk factors associated with clinical HM infection, and factors affecting or predicting survival. Medical records were examined from 23 cats with HM-induced anemia from the total of 170 cats diagnosed with anemia during this period. The frequency of HM-induced anemia was 14% (23/170) among all anemic cats. Cats with HM-induced anemia were less likely to be purebred (P = 0.04) than other cats with anemia. Of the cats with HM-induced anemia, those with positive retroviral status (P = 0.01), concurrent illness (P < 0.01), or lack of erythroid regeneration (P = 0.01) were most likely to die. The 1-year survival of HM-infected cats was 65% (13/20). PMID:20119543

  3. Malaria and Anemia among Children in a Low Resource Setting In Nigeria

    PubMed Central

    Oladeinde, BH; Omoregie, R; Olley, M; Anunibe, JA; Onifade, AA; Oladeinde, OB

    2012-01-01

    Background This study aimed at determining the prevalence of malaria and anemia among children in rural community of Okada, Edo State Nigeria, as well as to assess the level of use of Insecticide treated bed nets and its impact on prevalence of malaria and anemia among study population. Methods Thick blood films from 226 children with signs and symptoms of malaria in Okada community were stained and examined for presence of malaria parasites. Hemoglobin concentration of all children was also determined using standard method. Result A total of 185 (81.9%) children were infected with malaria parasite. Malaria parasitaemia was significantly affected by age (P =0.003). A significantly higher number of positive cases of malaria and anemia was observed in rainy season as compared to dry season (P<0.05). The prevalence of anemia in children was 47.3%. Malaria was a risk factor for development of anemia in children (OR=2.551; 95% CI=1.227, 5.305; P=0.015). Use of insecticide treated bed nets was recorded in 11(4.9%) of children studied, and did not significantly reduce the prevalence of malaria and anemia. However among malaria parasite infected children, its use significantly reduced the prevalence of anemia (OR=0.126; 95%CI=0.015, 1.047; P=0.031). Conclusion Malaria and anemia among children was high malaria intervention progammes by relevant agencies is strongly advocated. PMID:23109959

  4. Prevention of Iron-Deficiency Anemia in Infants and Children of Preschool Age.

    ERIC Educational Resources Information Center

    Fomon, Samuel J.

    Iron-deficiency anemia is almost certainly the most prevalent nutritional disorder among infants and young children in the United States. Anemia is frequently seen among children of low socioeconomic status but is probably also the most frequent nutritional deficiency disease seen among children cared for by private doctors. Possible reasons for…

  5. Anemia in postmenopausal women: dietary inadequacy or non-dietary factors

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Postmenopausal women are disproportionately affected by anemia, and the prevalence in females > 65 years of age in the United States is approximately 10%. The manifestation of anemia in older populations is associated with dietary inadequacy, blood loss, genetics, alterations in bioavailability, ren...

  6. Socio-Ecological Factors Affecting Pregnant Women's Anemia Status in Freetown, Sierra Leone

    ERIC Educational Resources Information Center

    M'Cormack, Fredanna; Drolet, Judy

    2012-01-01

    Background: Sierra Leone has high maternal mortality. Socio-ecological factors are considered contributing factors to this high mortality. Anemia is considered to be a direct cause of 4% of maternal deaths and an indirect cause of 20-40% of maternal deaths. Purpose: The current study explores socio-ecological contributing factors to the anemia

  7. "Untangling Sickle-Cell Anemia and the Teaching of Heterozygote Protection"

    ERIC Educational Resources Information Center

    Howe, Eric Michael

    2007-01-01

    Introductory biology textbooks often use the example of sickle-cell anemia to illustrate the concept of heterozygote protection. Ordinarily scientists expect the frequency of a gene associated with a debilitating illness would be low owing to its continual elimination by natural selection. The gene that causes sickle-cell anemia, however, has a…

  8. A Group Counseling Approach for Persons Who Work With Sickle Cell Anemia Clients.

    ERIC Educational Resources Information Center

    Calvin, Richmond

    Although many workshops on sickle cell anemia have been held, it is still difficult to implement a comprehensive training program for sickle cell anemia clients in many communities. Research data on the topic are somewhat nebulous and insufficient political and social pressure have been exerted to change attitudes and take action towards the…

  9. Prevalence and Associated Risk Factors of Anemia in Children and Adolescents with Intellectual Disabilities

    ERIC Educational Resources Information Center

    Lin, Jin-Ding; Lin, Pei-Ying; Lin, Lan-Ping; Hsu, Shang-Wei; Loh, Ching-Hui; Yen, Chia-Feng; Fang, Wen-Hui; Chien, Wu-Chien; Tang, Chi-Chieh; Wu, Chia-Ling

    2010-01-01

    Anemia is known to be a significant public health problem in many countries. Most of the available information is incomplete or limited to special groups such as people with intellectual disability. The present study aims to provide the information of anemia prevalence and associated risk factors of children and adolescents with intellectual…

  10. In anemia of multiple myeloma hepcidin is induced by increased bone-morphogenetic protein-2

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Hepcidin is the principal iron-regulatory hormone and pathogenic factor in anemia of inflammation. Patients with multiple myeloma (MM) frequently present with anemia. We showed that MM patients had increased serum hepcidin, which inversely correlated with hemoglobin, suggesting that hepcidin contrib...

  11. Mycoplasma pneumoniae Pneumonia Associated With Methemoglobinemia and Anemia: An Overlooked Association?

    PubMed Central

    Khoury, Tawfik; Abu Rmeileh, Ayman; Kornspan, Jonathan David; Abel, Roy; Mizrahi, Meir; Nir-Paz, Ran

    2015-01-01

    We report a case of acute methemoglobinemia and anemia in a patient with Mycoplasma pneumoniae pneumonia. We suggest that M. pneumoniae secretes a putative protein that can induce methemoglobin in red blood cells. Thus, Mycoplasma pneumoniae may induce methemoglobinemia in patients who have low oxygen saturation and anemia. PMID:26034771

  12. Association of diarrhea with anemia among children under age five living in rural areas of Indonesia.

    PubMed

    Howard, Caitlin T; de Pee, Saskia; Sari, Mayang; Bloem, Martin W; Semba, Richard D

    2007-08-01

    The high incidence of anemia of infection among children in developing countries is not well characterized. We investigated the relationship between diarrhea, fever and other risk factors for anemia in young children in the community. The relationship between risk factors for anemia was examined in a cross-sectional study of 85 229 children, aged 6-59 months, from impoverished families in rural areas of Indonesia. The prevalence of anemia was 56.1% among the study subjects. Those considered anemic were more likely to be younger, male, stunted, underweight, wasted, to have low maternal and paternal education and to have current diarrhea or history of diarrhea in the previous 7 days compared with children without anemia (all P < 0.0001). In separate multivariate models adjusted for age, sex, stunting, maternal age and education, and weekly per capita household expenditure, current diarrhea (OR 1.15, 95% CI 1.07-1.325, P < 0.0001) and a history of diarrhea in the previous 7 days (OR 1.16, 95% CI 1.09-1.25, P < 0.0001) were associated with an increased risk of anemia. In similar models, current fever had a borderline association with anemia (OR 1.14, 95% CI 0.98-1.32, P = 0.09). We conclude that diarrhea is a contributing factor of anemia among young children living in rural areas in Indonesia. PMID:17463011

  13. Prediction of Sickle Cell Anemia Patient's Response to Hydroxyurea Treatment Using ARTMAP Network

    E-print Network

    Valafar, Faramarz

    Prediction of Sickle Cell Anemia Patient's Response to Hydroxyurea Treatment Using ARTMAP Network distance-based ARTMAP (MART) network to the predication of sickle cell anemia patients' response In the United States, about 1 in 500 African Ameri- cans develops sickle cell anima [5]. In Africa, about 1

  14. Anemia--a complication of antiviral treatment in chronic viral hepatitis C.

    PubMed

    Or??an, Olga; Cozma, Angela; Rednic, N; Sâmpelean, D; Pârvu, Andrada; Petrov, L

    2009-01-01

    Anemia is an important and frequent secondary effect of the treatment with pegylated interferon and ribavirin in patients with chronic viral C hepatitis. Ribavirin produces more often hemolytic anemia, while pegylated interferon may determine medullary suppression. The level of hemoglobin beneath 10 g/dL is considered by most authors as being the reference level for anemia secondary to the antiviral treatment. Beneath this hemoglobin value it is recommended to reduce or to stop the treatment with ribavirin, to administer recombinant human erythropoietin or blood transfusion, based on the severity of the anemia. The growth rate of the serum erythropoietin in the first few weeks of treatment is correlated with the necessity of decreasing the doses or even to stop the treatment with ribavirin. The SVR (sustained viral response) rate of the patients is reduced when the ribavirin doses are reduced due to anemia. PMID:20446436

  15. Association between polymorphisms in PDCD1 gene and aplastic anemia in Chinese Han population.

    PubMed

    Wu, Zixia; Miao, Miao; Qiu, Yuhua; Qin, Zhenghong; Wang, Jin; Jiang, Yiguo; Ming, Zhijun; Zhang, Xueguang

    2013-10-01

    Single nucleotide polymorphism (SNP) of programmed cell death 1 (PD-1, encoded by PDCD1) has been reported to be associated with several autoimmune diseases including rheumatoid arthritis (RA), Graves' disease and multiple sclerosis (MS). In order to study the correlation between PD-1 gene polymorphism and aplastic anemia in a Chinese Han population, two SNPs, PD-1.1 G/A (rs36084323) and PD-1.6 G/A (rs10204525), were genotyped in 166 patients with aplastic anemia and 144 healthy controls by direct sequencing. All genotype distributions in both patients and controls were in Hardy-Weinberg equilibrium. Associations of genotypes and alleles with aplastic anemia were analyzed. The results suggested that the G allele of PD-1.1 was associated with an increased risk for aplastic anemia, while SNP of PD-1.6 was not associated with aplastic anemia in a Chinese Han population. PMID:23373967

  16. Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

    PubMed

    Zheng, Zhaojing; Geng, Juan; Yao, Ru-En; Li, Caihua; Ying, Daming; Shen, Yongnian; Ying, Lei; Yu, Yongguo; Fu, Qihua

    2013-11-10

    Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy. At least 15 genes have been identified that are involved in the pathogenesis of Fanconi anemia. However, it is still a challenge to assign the complementation group and to characterize the molecular defects in patients with Fanconi anemia. In the current study, whole exome sequencing was used to identify the affected gene(s) in a boy with Fanconi anemia. A recurring, non-synonymous mutation was found (c.3971C>T, p.P1324L) as well as a novel frameshift mutation (c.989_995del, p.H330LfsX2) in FANCA gene. Our results indicate that whole exome sequencing may be useful in clinical settings for rapid identification of disease-causing mutations in rare genetic disorders such as Fanconi anemia. PMID:23973728

  17. 9 CFR 75.4 - Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic...

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... infectious anemia reactors and approval of laboratories, diagnostic facilities, and research facilities. 75.4... IN HORSES, ASSES, PONIES, MULES, AND ZEBRAS Equine Infectious Anemia (swamp Fever) § 75.4 Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic facilities,...

  18. 9 CFR 75.4 - Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic...

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... infectious anemia reactors and approval of laboratories, diagnostic facilities, and research facilities. 75.4... IN HORSES, ASSES, PONIES, MULES, AND ZEBRAS Equine Infectious Anemia (swamp Fever) § 75.4 Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic facilities,...

  19. Association of Household Environment and Prevalence of Anemia Among Children Under-5 in India

    PubMed Central

    Baranwal, Annu; Baranwal, Anshu; Roy, Nobhojit

    2014-01-01

    Objective: The study explores the association between the household environment and the prevalence of anemia among children under the age of 5?years in India. Data and methodology: The study is based on 52,868 children under the age of 5?years, included in India’s National Family Health Survey-3. The outcome variable was the prevalence of anemia. To understand the role of environment in determining child anemia, step wise logistic regression models consisting of environmental, child, socio-economic, and media exposure variables were applied. Results: The occurrence of childhood anemia was higher in the North Eastern and Eastern regions compared to all other regions of India. Unclean fuel use, poor toilet facilities, staying in non-concrete house, exposure to smoking were important variables determining the prevalence of anemia. Smoking, when it was controlled with only socio economic factors, showed lesser impact on anemia, but when it got adjusted with socio-economic, child, and media variables together it showed an important impact as it increased the risk of anemia. Conclusion: Children under 5?years of age generally stay inside their house and are more exposed to the household environment. Thus, among these children there are multiple risk factors causing anemia along with the nutritional deficiencies. Better resources are needed to educate the public and to increase awareness for improved hygiene, sanitation and housing facilities, health and nutrition, etc. Along with a wider program to manage nutritional deficiency, anemia in children <5?years, there should be a holistic approach toward anemia control inculcating household environmental conditions and socio economic determinants. PMID:25368862

  20. Anemia among Muslim Bedouin and Jewish women of childbearing age in Southern Israel.

    PubMed

    Treister-Goltzman, Yulia; Peleg, Roni; Biderman, Aya

    2015-11-01

    There are inequalities in health indicators among different ethnic groups living in the same region and receiving the same medical services. Anemia is a global problem. Although the prevalence of anemia is not high in Israel, differences among ethnic groups have not been studied. Our objective was to assess anemia among Bedouin and Jewish women of childbearing age in southern Israel. A retrospective observational study was conducted based on data from computerized medical records. Seven thousand eight hundred seventy-one women in the study clinics underwent complete blood counts and had blood hemoglobin levels of 11 g/dl or below. The Jewish patients were older (31.7 vs. 29.7 years, P?anemia were iron deficiency and anemia of chronic disease. Two types of anemia were proportionally higher among Jewish women, anemia of chronic disease (18.1 vs. 9.7 %, P??0.001). The adherence rates for treatment were very low. Three factors associated with severe anemia (hemoglobin below 8 g/dl) were being Bedouin (odds ratio (OR)?=?1.295, P?anemia, and adherence to treatment for anemia is very low in both groups. These findings should be addressed in a national program to reduce health inequalities. PMID:26211919

  1. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.

    PubMed

    Cazzola, Mario; Malcovati, Luca

    2015-12-01

    The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males have a hypochromic microcytic anemia, which is generally mild to moderate and is caused by defective heme synthesis and ineffective erythropoiesis. XLSA is a typical iron-loading anemia; although most patients are responsive to pyridoxine, treatment of iron overload is also important in the management of these patients. Autosomal recessive sideroblastic anemia attributable to mutations in SLC25A38, a member of the mitochondrial carrier family, is a severe disease: patients present in infancy with microcytic anemia, which soon becomes transfusion dependent. Conservative therapy includes regular red cell transfusion and iron chelation, whereas allogenic stem cell transplantation represents the only curative treatment. Refractory anemia with ring sideroblasts (RARS) is a myelodysplastic syndrome characterized mainly by anemia attributable to ineffective erythropoiesis. The clinical course of RARS is generally indolent, but there is a tendency to worsening of anemia over time, so that most patients become transfusion dependent in the long run. More than 90% of these patients carry somatic mutations in SF3B1, a gene encoding a core component of the RNA splicing machinery. These mutations cause misrecognition of 3' splice sites in downstream genes, resulting in truncated gene products and/or decreased expression attributable to nonsense-mediated RNA decay; this explains the multifactorial pathogenesis of RARS. Variants of RARS include refractory cytopenia with multilineage dysplasia and ring sideroblasts, and RARS associated with marked thrombocytosis; these variants involve additional genetic lesions. Inhibitors of molecules of the transforming growth factor-? superfamily have been shown recently to target ineffective erythropoiesis and ameliorate anemia both in animal models of myelodysplastic syndrome and in RARS patients. PMID:26637696

  2. Anemia prevalence and treatment practice in patients with non-myeloid tumors receiving chemotherapy

    PubMed Central

    Merlini, Laura; Cartenì, Giacomo; Iacobelli, Stefano; Stelitano, Caterina; Airoldi, Mario; Balcke, Peter; Keil, Felix; Haslbauer, Ferdinand; Belton, Laura; Pujol, Beatriz

    2013-01-01

    Purpose To describe the prevalence and management of anemia in cancer patients. Methods This cross-sectional, observational survey was conducted in Italy and Austria. Centers prespecified one day, during a 4-month enrollment window, to report specific data collected during normal clinical practice for patients with non-myeloid tumors attending for chemotherapy (±radiotherapy) treatment. The primary endpoint was the prevalence of anemia as determined using a prespecified algorithm: hemoglobin (Hb) ?10 g/dL on/within 3 days prior to visit; ongoing anemia treatment; physician diagnosis of anemia, together with ?1 anemia symptom. Results Between November 18, 2010 and March 18, 2011, data for 1412 patients were collected (Italy n = 1130; Austria n = 282). Most patients (n = 1136; 80%) had solid tumors; 809 (57%) had received ?3 chemotherapy cycles. The prevalence of anemia was 32% (95% confidence interval: 29.4%–34.2%); 196 patients (14%) were deemed anemic based on Hb ?10 g/dL, 131 (9%) on ongoing anemia treatment, and 121 (9%) on physician diagnosis/anemia symptom. Overall, 1153 patients (82%) had Hb data; mean (standard deviation [SD]) Hb levels were 11.7 (1.7) g/dL. In total, 456 patients (32%) had anemia symptoms: fatigue (n = 392; 28%), depression (n = 122; 9%), and dyspnea (n = 107; 8%) were most common. Fifty-one patients (4%) had had their current chemotherapy cycle delayed due to anemia. On visit day, or ?28 days prior, 91 (6%), 188 (13%), and 81 patients (6%) had evidence of whole blood/red blood cell transfusion, erythropoiesis-stimulating agent use, or iron use, respectively. Conclusion On the prespecified study day, one-third of patients with non-myeloid tumors undergoing chemotherapy were found to be anemic and 13% had evidence of erythropoiesis-stimulating agent use then or in the 28 days prior. PMID:23946669

  3. The prevalence of nutritional anemia in pregnancy in an east Anatolian province, Turkey

    PubMed Central

    2010-01-01

    Background Anemia is considered a severe public health problem by World Health Organization when anemia prevalence is equal to or greater than 40% in the population. The purpose of this study was to determine the anemia prevalence with the associated factors in pregnant women and to determine the serum iron, folate and B12 vitamin status in anaemic pregnants in Malatya province. Methods This is a cross-sectional survey. A multi-sage stratified probability-proportional-to-size cluster sampling methodology was used. A total of 823 pregnant women from sixty clusters were studied. Women were administered a questionnaire related with the subject and blood samples were drawn. Total blood count was performed within four hours and serum iron, folate and B12 vitamin were studied after storing sera at -20 C for six months. Results Anemia prevalence was 27.1% (Hb < 11.0 gr/dl). Having four or more living children (OR = 2.2), being at the third trimester (OR = 2.3) and having a low family income (OR = 1.6) were determined as the independent predictors of anemia in pregnancy. Anemia was also associated with soil eating (PICA) in the univariate analysis (p < 0.05). Of anaemic women, 50.0% had a transferrin saturation less than 10% indicating iron deficiency, 34.5% were deficient in B12 vitamin and 71.7% were deficient in folate. Most of the anemias were normocytic-normochromic (56.5%) indicating mixed anemia. Conclusions In Malatya, for pregnant women anemia was a moderate public health problem. Coexisting of iron, folate and B vitamin deficiencies was observed among anaemics. To continue anemia control strategies with reasonable care and diligence was recommended. PMID:20537176

  4. Anemia induced by high zinc intake in chicks: Mechanisms

    SciTech Connect

    Pimentel, J.L.; Greger, J.L.; Cook, M.E. )

    1991-03-15

    The mechanisms by which excess Zn induced anemia in chickens was assessed in 8 studies in which chicks were randomly assigned to a 2 {times} 2 factorial arrangement of treatments with 60 or 2,000 {mu}g Zn and 10 or 250 {mu}g Cu/g diet. Less Fe-59 appeared in the plasma 1 hour after a labeled meal when chicks were fed excess Zn in 1 of 2 studies but less Fe-59 appeared in livers of chicks fed excess Zn in both studies. The decrease of Fe-59 uptake into tissues paralleled a decrease in Fe concentrations in livers and tibiotarsi. These differences in tissue Fe did not reflect differences in Fe excretion because excretion and incorporation into tissues of injected Fe-59 was not affected by high Zn intake. Although excess Zn decreased tissue Cu concentrations, excess Zn, per se, did not affect cytosolic superoxide dismutase activity, the in vivo t 1/2 of erythrocytes, or erythrocyte hemolysis in vitro. The decrease in body weight of chicks fed excess Zn indicated that protein synthesis and/or degradation could be affected. Increased incorporation of C-14 tyrosine into liver and bone marrow of chicks fed excess Zn suggested increased protoporphyrin synthesis or metallothionein synthesis. These results indicated that decreased Fe absorption was the primary mechanism by which excess Zn induced anemia.

  5. New Treatment Approaches for the Anemia of CKD.

    PubMed

    Bonomini, Mario; Del Vecchio, Lucia; Sirolli, Vittorio; Locatelli, Francesco

    2016-01-01

    Normocytic normochromic anemia is a common complication in chronic kidney disease and is associated with many adverse clinical consequences. Erythropoiesis-stimulating agents (ESAs) and adjuvant iron therapy represent the primary treatment for anemia in chronic kidney disease. The introduction of ESAs into clinical practice was a success story, mediating an increase in hemoglobin concentrations without the risk for recurrent blood transfusions and improving quality of life substantially. However, recombinant ESAs are still expensive and require a parenteral route of administration. Moreover, concern has arisen following randomized clinical trials showing that higher hemoglobin targets and/or high ESA doses may cause significant harm. This, together with changes in ESA reimbursement policy in some countries, has resulted in a significant reduction in ESA prescribing and the hemoglobin level targeted during therapy. Several attempts are being made to develop new drugs with improved characteristics and/or easier manufacturing processes compared with currently available ESAs, including new treatment approaches that may indirectly improve erythropoiesis. We give an update on the new investigational strategies for increasing erythropoiesis, examining in depth their characteristics and possible advantages in the clinical setting and the caveats to be aware of at the present stage of development. PMID:26372086

  6. [Severe sideropenic anemia in a young middle-distance runner].

    PubMed

    Guala, A; Giorcelli, V; Gallo, G; Pastore, G; Rossi, M; Cerruti Mainardi, P

    1992-04-01

    In recent years several cases of anemia (iron deficiency) have been reported in adults who participate in long-distance running although its etiology has not been entirely explained. We report the case of a 16-year-old girl who had participated in middle-distance running at a competitive level for about three years and who had been admitted to hospital because of a progressive weakness and a reduction in her sporting performance. Evaluation revealed that the patient had a balanced diet, normal menstrual cycles and slight abdominal pain. The objective examination were negative except for the presence of a pronounced pallor of the skin and the mucous membranes. The blood count revealed Hb 7.5 g%, Ht 26%, GV 63 mu 3, the reticulocyte count was 10%, serum iron 9 micrograms/dl, serum transferrin 450 micrograms/dl and serum ferritin 4 ng/ml. All tests for constitutional anemia proved negative. Stool Hemoccult tests proved negative (these tests were carried out some weeks after the patient had stopped running). Her symptoms resolved after the beginning of iron treatment and her blood test results returned to normal. This case has been reported to draw attention to the existence of this problem in adolescents who practice sport. The knowledge of the problem night lead to a preventive scanning of young athletes and the presence of clinical manifestations would reduce the need for invasive tests. PMID:1588899

  7. [Hematopoietic stem cell transplantation for acquired aplastic anemia].

    PubMed

    Yamazaki, Hirohito

    2015-10-01

    Allogeneic hematopoietic stem cell transplantation (allo-SCT) is one of the options for curative treatment of aplastic anemia. However, physicians often hesitate in selecting this option due to the lack of ample evidence regarding the optimal conditioning regimen and long-term outcomes of allo-SCT from alternative donors. Allo-SCT is the first choice of treatment in patients under 40 years of age with stage 3-5 aplastic anemia who possess HLA-matched sibling donors. Allo-SCT from alternative donors such as unrelated individuals or employing umbilical cord blood should be considered for patients with disease refractory to immunosuppressive therapy. High dose cyclophosphamide (CY) which was formerly used as the standard conditioning regimen is currently being replaced by a reduced dose CY regimen combined with fludarabine to avoid cardiotoxicity. Peripheral blood stem cell transplantation must be avoided due to the higher incidence of chronic GVHD than with bone marrow transplantation. Among transplants from alternative donors, HLA-haploidentical SCT from related donors using post-transplant CY is now attracting considerable attention due to its low transplant-related mortality and low incidence of chronic GVHD. PMID:26458455

  8. [Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].

    PubMed

    Toki, Tsutomu; Ito, Etsuro

    2015-07-01

    Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome, characterized by red blood cell aplasia. Macrocytic anemia is a prominent feature of DBA but the disease is also characterized by growth retardation and congenital anomalies that are present in approximately 40% of affected patients. DBA is associated with single, monoallelic, inactivating mutations in ribosomal protein (RP) genes. In DBA, mutations or large deletions in RP genes include RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RPL5, RPL11, RPL26 and RPL35A. These mutations have been reported in up to 60% of DBA patients. To date, no known pathogenic mutations have been found in the remaining patients. In an effort to identify new mutations responsible for DBA, we performed whole-exome sequencing analysis of 48 patients with no documented mutations/deletions in our first screening and identified a de novo splicing error mutation in RPL27 and a frameshift deletion in RPS27 in sporadic patients with DBA. In vitro knockdown of the gene expression disturbed pre-ribosomal RNA processing. Zebrafish models of rpl27 and rps27 mutations showed impairments of erythrocyte production and tail and/or brain development. In this report, we also discuss current knowledge regarding pathways from the impairment of ribosomal biogenesis to the pathology of DBA. PMID:26251151

  9. Anemia and Feeding Practices among Infants in Rural Shaanxi Province in China

    PubMed Central

    Luo, Renfu; Shi, Yaojiang; Zhou, Huan; Yue, Ai; Zhang, Linxiu; Sylvia, Sean; Medina, Alexis; Rozelle, Scott

    2014-01-01

    Anemia is one of the most prevalent public health problems among infants and iron deficiency anemia has been related to many adverse consequences. The overall goal of this study is to examine the prevalence of anemia among infants in poor rural China and to identify correlates of anemia. In April 2013, we randomly sampled 948 infants aged 6–11 months living in 351 villages across 174 townships in nationally-designated poverty counties in rural areas of southern Shaanxi Province, China. Infants were administered a finger prick blood test for hemoglobin (Hb). Anthropometric measurement and household survey of demographic characteristics and feeding practices were conducted in the survey. We found that 54.3% of 6–11 month old infants in poor rural China are anemic, and 24.3% of sample infants suffer from moderate or severe anemia. We find that children still breastfed over 6 months of age had lower Hb concentrations and higher anemia prevalence than their non-breastfeeding counterparts (p < 0.01), and that children who had ever been formula-fed had significantly higher Hb concentrations and lower anemia prevalence than their non-formula-fed counterparts (p < 0.01). The results suggest the importance of iron supplementation or home fortification while breastfeeding. PMID:25533008

  10. Determinants of Anemia and Hemoglobin Concentration in Haitian School-Aged Children.

    PubMed

    Iannotti, Lora L; Delnatus, Jacques R; Odom, Audrey R; Eaton, Jacob C; Griggs, Jennifer J; Brown, Sarah; Wolff, Patricia B

    2015-11-01

    Anemia diminishes oxygen transport in the body, resulting in potentially irreversible growth and developmental consequences for children. Limited evidence for determinants of anemia exists for school-aged children. We conducted a cluster randomized controlled trial in Haiti from 2012 to 2013 to test the efficacy of a fortified school snack. Children (N = 1,047) aged 3-13 years were followed longitudinally at three time points for hemoglobin (Hb) concentrations, anthropometry, and bioelectrical impedance measures. Dietary intakes, infectious disease morbidities, and socioeconomic and demographic factors were collected at baseline and endline. Longitudinal regression modeling with generalized least squares and logit models with random effects identified anemia risk factors beyond the intervention effect. At baseline, 70.6% of children were anemic and 2.6% were severely anemic. Stunting increased the odds of developing anemia (adjusted odds ratio [OR]: 1.48, 95% confidence interval [CI]: 1.05-2.08) and severe anemia (adjusted OR: 2.47, 95% CI: 1.30-4.71). Parent-reported vitamin A supplementation and deworming were positively associated with Hb concentrations, whereas fever and poultry ownership showed a negative relationship with Hb concentration and increased odds of severe anemia, respectively. Further research should explore the full spectrum of anemia etiologies in school children, including genetic causes. PMID:26350448

  11. Myelodysplastic syndrome evolving from aplastic anemia treated with immunosuppressive therapy: efficacy of hematopoietic stem cell transplantation

    PubMed Central

    Kim, Sung-Yong; Le Rademacher, Jennifer; Antin, Joseph H.; Anderlini, Paolo; Ayas, Mouhab; Battiwalla, Minoo; Carreras, Jeanette; Kurtzberg, Joanne; Nakamura, Ryotaro; Eapen, Mary; Deeg, H. Joachim

    2014-01-01

    A proportion of patients with aplastic anemia who are treated with immunosuppressive therapy develop clonal hematologic disorders, including post-aplastic anemia myelodysplastic syndrome. Many will proceed to allogeneic hematopoietic stem cell transplantation. We identified 123 patients with post-aplastic anemia myelodysplastic syndrome who from 1991 through 2011 underwent allogeneic hematopoietic stem cell transplantation, and in a matched-pair analysis compared outcome to that in 393 patients with de novo myelodysplastic syndrome. There was no difference in overall survival. There were no significant differences with regard to 5-year probabilities of relapse, non-relapse mortality, relapse-free survival and overall survival; these were 14%, 40%, 46% and 49% for post-aplastic anemia myelodysplastic syndrome, and 20%, 33%, 47% and 49% for de novo myelodysplastic syndrome, respectively. In multivariate analysis, relapse (hazard ratio 0.71; P=0.18), non-relapse mortality (hazard ratio 1.28; P=0.18), relapse-free survival (hazard ratio 0.97; P=0.80) and overall survival (hazard ratio 1.02; P=0.88) of post-aplastic anemia myelodysplastic syndrome were similar to those of patients with de novo myelodysplastic syndrome. Cytogenetic risk was independently associated with overall survival in both groups. Thus, transplant success in patients with post-aplastic anemia myelodysplastic syndrome was similar to that in patients with de novo myelodysplastic syndrome, and cytogenetics was the only significant prognostic factor for post-aplastic anemia myelodysplastic syndrome patients. PMID:25107891

  12. Anemia and the Need for Intravenous Iron Infusion after Roux-en-Y Gastric Bypass

    PubMed Central

    Kotkiewicz, Adam; Donaldson, Keri; Dye, Charles; Rogers, Ann M; Mauger, David; Kong, Lan; Eyster, M Elaine

    2015-01-01

    The frequency of anemia, iron deficiency, and the long-term need for IV iron following Roux-en-y gastric bypass (RYGB) surgery has not been well characterized. Three-hundred and nineteen out of 904 consecutive subjects who underwent RYGB at Penn State Hershey Medical Center from 1999 to 2006 met the inclusion criteria for a preoperative complete blood count (CBC) and at least one CBC >6 months following surgery. Cumulative incidence of anemia 7 years post procedure was 58%. Menstruation status and presence of preoperative anemia were predictive of anemia by univariate analysis and multivariable Cox regression (P = 0.0014 and 0.044, respectively). Twenty-seven subjects, primarily premenopausal women, representing 8.5% of the cohort and 22% of the 122 anemic subjects, needed intravenous (IV) iron a mean of 51 months postoperatively for anemia unresponsive or refractory to oral iron. The risk for development of anemia necessitating IV iron therapy following RYGB is highest in menstruating women and continues to increase for many years, even in post-menopausal women. Well-designed prospective studies are needed to identify the incidence of iron deficiency anemia and the patient populations at increased risk for requiring IV iron replacement after RYGB surgery. PMID:26078589

  13. Anemia and iron deficiency among school adolescents: burden, severity, and determinant factors in southwest Ethiopia

    PubMed Central

    Tesfaye, Melkam; Yemane, Tilahun; Adisu, Wondimagegn; Asres, Yaregal; Gedefaw, Lealem

    2015-01-01

    Background Adolescence is the period of most rapid growth second to childhood. The physical and physiological changes that occur in adolescents place a great demand on their nutritional requirements and make them more vulnerable to anemia. Anemia in the adolescence causes reduced physical and mental capacity and diminished concentration in work and educational performance, and also poses a major threat to future safe motherhood in girls. The purpose of this study was to determine the prevalence of anemia and its associated factors among school adolescents in Bonga Town, southwest Ethiopia. Methods A cross-sectional study was conducted among 408 school adolescents in Bonga Town, southwest Ethiopia, from March 15, 2014 to May 25, 2014. An interviewer-administered questionnaire was used to collect sociodemographic and other data. A total of 7 mL of venous blood and 4 g of stool samples were collected from each study participant. Blood and stool samples were analyzed for hematological and parasitological analyses, respectively. Data were analyzed using SPSS Version 20 software for Windows. Results The overall prevalence of anemia was 15.2% (62/408), of which 83.9% comprised mild anemia. The proportion of microcytic, hypochromic anemia was 53% (33/62). Being female (adjusted odds ratio [AOR] =3.04, 95% confidence interval (CI) =1.41–6.57), household size ?5 (AOR =2.58, 95% CI =1.11–5.96), father’s illiteracy (AOR =9.03, 95% CI =4.29–18.87), intestinal parasitic infection (AOR =5.37, 95% CI =2.65–10.87), and low body mass index (AOR =2.54, 95% CI =1.17–5.51) were identified as determinants of anemia among school adolescents. Conclusion This study showed that anemia was a mild public health problem in this population. School-based interventions on identified associated factors are important to reduce the burden of anemia among school adolescents. PMID:26719736

  14. The Relationship Between Incidence of Fractures and Anemia in Older Multiethnic Women

    PubMed Central

    Chen, Zhao; Thomson, Cynthia A.; Aickin, Mikel; Nicholas, J. Skye; Van Wyck, David; Lewis, Cora E.; Cauley, Jane A.; Bassford, Tamsen

    2010-01-01

    Objectives The purpose of this study was to prospectively examine the relationship between anemia and incident fractures of the hip, spine and all skeletal sites in women from diverse racial and ethnic backgrounds enrolled in the Women's Health Initiative (WHI) Observational Study and Clinical Trials. Design Prospective cohort study. Setting 40 WHI clinical centers across the US. Participants Postmenopausal women (n = 160,080), mean age 63.2 (SD: 7.2) years, were recruited and followed for an average of 7.8 years. Measurements Anemia was defined as hemoglobin levels at baseline less than 12 g/dL. All fractures were self-reported. Hip fractures were further confirmed by trained physicians using medical records. Results Among the participants 8,739 women (5.5%) were anemic. The age-adjusted incidence rate of hip fractures per 10,000 person years were 21.4 in women with anemia and 15.0 in women without anemia; a higher incidence rate for spine or all fractures in anemic women was also observed. After multiple covariates were included in the Cox proportional hazards models, significant increased fracture risk associated with anemia still existed as demonstrated by the hazards ratios (95% confidence interval) of fractures associated with anemia being 1.38 (1.13–1.68), 1.30 (1.09–1.55) and 1.07 (1.01–1.14) for hip, spine and all-types respectively. No significant racial/ethnic difference was found in these relationships. Conclusion A significantly increased fracture risk was observed in multi-ethnic postmenopausal women with anemia. Given the high prevalence of anemia in the elderly population, it is important to better understand the relationship and mechanisms linking anemia to fracture risk. PMID:21143442

  15. Impact of Anemia and Dual Antiplatelet Therapy on Mortality in Patients Undergoing Percutaneous Coronary Intervention with Drug-Eluting Stents

    PubMed Central

    Wang, Huili; Yang, Yuan; Ma, Lufeng; Wang, Xian; Zhang, Jun; Fu, Jinguo; Zhang, Shouyan; Zhang, Ling; Hu, Dayi; Ding, Rongjing

    2015-01-01

    The objective was to assess the impact of baseline anemia on all-cause mortality and whether 12-month dual antiplatelet therapy (DAPT) affects 1-year mortality linked to anemia in patients after percutaneous coronary intervention (PCI) with drug-eluting stents (DES). 4109 enrolled patients divided into three groups based on their pre-procedural hemoglobin (Hb) level: Hb?anemia; 100?mg/L???Hb?anemia; Hb???120?mg/L for women and Hb?130?mg/L for men represented no anemia. DAPT medications were prescribed when patients were discharged. There were significant differences in 30-day and 1-year mortality between moderate-severe anemia and no anemia patients (HR 8.05, 95% CI 1.46 to 44.33, P?=?0.017; HR 3.93, 95% CI 1.11 to 13.98, P?=?0.034), and in long-term mortality between anemia and no anemia groups (HR 1.82, 95% CI 1.17 to 2.83, P?=?0.008 for mild anemia; HR 3.19,95% CI 1.29 to 7.86, P?=?0.012 for moderate-severe anemia). There was not significant interaction between 12-month DAPT and anemia on mortality in anemic patients (P for interaction?>?0.05). Anemia shows association with increased all-cause mortality in patients undergoing PCI. Twelve-month DAPT does not show synergy with anemia to increase the risk of all-cause 1-year mortality in anemic patients after PCI. PMID:26601689

  16. The Association of Parasitic Infections in Pregnancy and Maternal and Fetal Anemia: A Cohort Study in Coastal Kenya

    PubMed Central

    McClure, Elizabeth M.; Meshnick, Steven R.; Mungai, Peter; Malhotra, Indu; King, Christopher L.; Goldenberg, Robert L.; Hudgens, Michael G.; Siega-Riz, Anna Maria; Dent, Arlene E.

    2014-01-01

    Background Relative contribution of these infections on anemia in pregnancy is not certain. While measures to protect pregnant women against malaria have been scaling up, interventions against helminthes have received much less attention. In this study, we determine the relative impact of helminthes and malaria on maternal anemia. Methods A prospective observational study was conducted in coastal Kenya among a cohort of pregnant women who were recruited at their first antenatal care (ANC) visit and tested for malaria, hookworm, and other parasitic infections and anemia at enrollment. All women enrolled in the study received presumptive treatment with sulfadoxine-pyrimethamine, iron and multi-vitamins and women diagnosed with helminthic infections were treated with albendazole. Women delivering a live, term birth, were also tested for maternal anemia, fetal anemia and presence of infection at delivery. Principal Findings Of the 706 women studied, at the first ANC visit, 27% had moderate/severe anemia and 71% of women were anemic overall. The infections with highest prevalence were hookworm (24%), urogenital schistosomiasis (17%), trichuria (10%), and malaria (9%). In adjusted and unadjusted analyses, moderate/severe anemia at first ANC visit was associated with the higher intensities of hookworm and P. falciparum microscopy-malaria infections. At delivery, 34% of women had moderate/severe anemia and 18% of infants' cord hemoglobin was consistent with fetal anemia. While none of the maternal infections were significantly associated with fetal anemia, moderate/severe maternal anemia was associated with fetal anemia. Conclusions More than one quarter of women receiving standard ANC with IPTp for malaria had moderate/severe anemia in pregnancy and high rates of parasitic infection. Thus, addressing the role of co-infections, such as hookworm, as well as under-nutrition, and their contribution to anemia is needed. PMID:24587473

  17. Impact of Anemia and Dual Antiplatelet Therapy on Mortality in Patients Undergoing Percutaneous Coronary Intervention with Drug-Eluting Stents.

    PubMed

    Wang, Huili; Yang, Yuan; Ma, Lufeng; Wang, Xian; Zhang, Jun; Fu, Jinguo; Zhang, Shouyan; Zhang, Ling; Hu, Dayi; Ding, Rongjing

    2015-01-01

    The objective was to assess the impact of baseline anemia on all-cause mortality and whether 12-month dual antiplatelet therapy (DAPT) affects 1-year mortality linked to anemia in patients after percutaneous coronary intervention (PCI) with drug-eluting stents (DES). 4109 enrolled patients divided into three groups based on their pre-procedural hemoglobin (Hb) level: Hb?anemia; 100?mg/L???Hb?anemia; Hb???120?mg/L for women and Hb?130?mg/L for men represented no anemia. DAPT medications were prescribed when patients were discharged. There were significant differences in 30-day and 1-year mortality between moderate-severe anemia and no anemia patients (HR 8.05, 95% CI 1.46 to 44.33, P?=?0.017; HR 3.93, 95% CI 1.11 to 13.98, P?=?0.034), and in long-term mortality between anemia and no anemia groups (HR 1.82, 95% CI 1.17 to 2.83, P?=?0.008 for mild anemia; HR 3.19,95% CI 1.29 to 7.86, P?=?0.012 for moderate-severe anemia). There was not significant interaction between 12-month DAPT and anemia on mortality in anemic patients (P for interaction?>?0.05). Anemia shows association with increased all-cause mortality in patients undergoing PCI. Twelve-month DAPT does not show synergy with anemia to increase the risk of all-cause 1-year mortality in anemic patients after PCI. PMID:26601689

  18. Two cases of concomitant acquired aplastic anemia and systemic mastocytosis.

    PubMed

    Golardi, Natalia; Sramek, Jacob E; Myers, Jerome B; Saffer, Helene; George, Tracy I; Czuchlewski, David R

    2014-02-01

    Reactive bone marrow mast cells reliably lack the morphologic, immunophenotypic, and molecular features of systemic mastocytosis (SM). We report two unusual cases of acquired aplastic anemia (AA) in which multifocal aggregates of bone marrow mast cells fulfilled morphologic and immunophenotypic criteria for SM according to the World Health Organization 2008 classification. In the absence of clinical symptoms attributable to SM, the patients were treated with immunosuppressive therapy directed towards AA. Clinical follow-up and subsequent bone marrow examination revealed no evidence of overt SM in either patient. These cases represent, to our knowledge, the first reported instances in which criteria for SM have been fulfilled in the presence of AA. However, given the clinical courses followed by our patients, the incidental identification of mast cell lesions consistent with indolent SM may be of uncertain significance in the setting of AA. PMID:24182560

  19. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach.

    PubMed

    Iolascon, Achille; Heimpel, Hermann; Wahlin, Anders; Tamary, Hannah

    2013-09-26

    The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphologic abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). KIF23 encodes mitotic kinesin-like protein 1, which plays a critical role in cytokinesis, whereas the cellular role of the proteins encoded by CDAN1 and SEC23B is still unknown. CDA variants with mutations in erythroid transcription factor genes (KLF1 and GATA-1) have been recently identified. Molecular diagnosis of CDA is now possible in most patients. PMID:23940284

  20. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach

    PubMed Central

    Heimpel, Hermann; Wahlin, Anders; Tamary, Hannah

    2013-01-01

    The congenital dyserythropoietic anemias (CDAs) are hereditary disorders characterized by distinct morphologic abnormalities of marrow erythroblasts. The unveiling of the genes mutated in the major CDA subgroups (I-CDAN1 and II-SEC23B) has now been completed with the recent identification of the CDA III gene (KIF23). KIF23 encodes mitotic kinesin-like protein 1, which plays a critical role in cytokinesis, whereas the cellular role of the proteins encoded by CDAN1 and SEC23B is still unknown. CDA variants with mutations in erythroid transcription factor genes (KLF1 and GATA-1) have been recently identified. Molecular diagnosis of CDA is now possible in most patients. PMID:23940284

  1. Kleine–Levin syndrome with comorbid iron deficiency anemia

    PubMed Central

    Jain, Rajendra Singh; Kumar, Sunil; Srivastava, Trilochan; Sannegowda, Raghavendra Bakki

    2015-01-01

    Kleine–Levin syndrome (KLS) is a rare chronic sleep disorder of unknown etiopathology, which typically occurs in adolescent males. Although the severity of symptoms and disease course varies between the KLS patients, it usually resolves spontaneously, but sometime comorbid conditions may worsen the symptoms. Herein, we report a case of KLS who presented with severe episodic hypersomnia. During episodes, the patient used to sleep as long as 20 h in a day, affecting his daily living activities. All the relevant investigations including electroencephalography, magnetic resonance imaging of brain and cerebrospinal fluid analysis were normal except for severe iron deficiency anemia (IDA). In our patient, the severity of symptoms worsened due to coexistent IDA. The treatment of IDA along with modafinil decreased the severity of symptoms and shortened the hospital stay during episodes. This might be the first case report of KLS with comorbid IDA. PMID:26634130

  2. Stress and DNA repair biology of the Fanconi anemia pathway

    PubMed Central

    Longerich, Simonne; Li, Jian; Xiong, Yong; Sung, Patrick

    2014-01-01

    Fanconi anemia (FA) represents a paradigm of rare genetic diseases, where the quest for cause and cure has led to seminal discoveries in cancer biology. Although a total of 16 FA genes have been identified thus far, the biochemical function of many of the FA proteins remains to be elucidated. FA is rare, yet the fact that 5 FA genes are in fact familial breast cancer genes and FA gene mutations are found frequently in sporadic cancers suggest wider applicability in hematopoiesis and oncology. Establishing the interaction network involving the FA proteins and their associated partners has revealed an intersection of FA with several DNA repair pathways, including homologous recombination, DNA mismatch repair, nucleotide excision repair, and translesion DNA synthesis. Importantly, recent studies have shown a major involvement of the FA pathway in the tolerance of reactive aldehydes. Moreover, despite improved outcomes in stem cell transplantation in the treatment of FA, many challenges remain in patient care. PMID:25237197

  3. Paramagnetic Europium Salen Complex and Sickle-Cell Anemia

    NASA Astrophysics Data System (ADS)

    Wynter, Clive I.; Ryan, D. H.; May, Leopold; Oliver, F. W.; Brown, Eugene; Hoffman, Eugene J.; Bernstein, David

    2005-04-01

    A new europium salen complex, Eu(salen)2NH4, was synthesized, and its composition was confirmed by chemical analysis and infrared spectroscopy. Further characterization was carried out by 151 Eu Mössbauer spectroscopy and magnetic susceptibility measurements. Mössbauer spectroscopic measurements were made at varying temperatures between 9 K and room temperature and a value of Debye temperature of 133 ±5 K was computed. Both Mössbauer and magnetic susceptibility measurements confirmed the paramagnetic behavior of this complex and the trivalent state of the europium ion. In view of the fact that the "odd" paramagnetic molecule NO has been shown to reverse sickling of red blood cells in sickle cell anemia, the interaction between the paramagnetic europium salen complex and sickle cells was examined after incubation with this europium complex and shown to have similar effects.

  4. [Aplastic anemia with trisomy 8 and trisomy 9 in intestinal behcets disease].

    PubMed

    Chung, Joo Won; Cheon, Jae Hee; Lee, Kyong Joo; Kim, Jin Seok; Jang, Seon Jung; Yang, Woo Ick; Kim, Tae Il; Kim, Won Ho

    2010-04-01

    Behcets disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcets disease. There were only several reports about Behcets disease associated myelodysplatic syndrome worldwide. Moreover, aplastic anemia in intestinal Behcets disease was rarely reported. Here, we present a case of aplastic anemia with trisomy 8 and trisomy 9 in intestinal Behcets disease and a review of the literatures. To the authors knowledge, this is the first case ever reported in Korea. PMID:20389180

  5. The impact of maternal iron deficiency and iron deficiency anemia on child’s health

    PubMed Central

    Abu-Ouf, Noran M.; Jan, Mohammed M.

    2015-01-01

    Iron deficiency anemia is extremely common, particularly in the developing world, reaching a state of global epidemic. Iron deficiency during pregnancy is one of the leading causes of anemia in infants and young children. Many women go through the entire pregnancy without attaining the minimum required intake of iron. This review aims to determine the impact of maternal iron deficiency and iron deficiency anemia on infants and young children. Extensive literature review revealed that iron deficiency is a global nutritional problem affecting up to 52% of pregnant women. Many of these women are symptomatic. Lack of proper weight gain during pregnancy is an important predictor of iron deficiency. PMID:25719576

  6. Depressive disorders co-existing with Addison–Biermer anemia – case report

    PubMed Central

    Just, Mark Jean; Kozakiewicz, Mariusz

    2015-01-01

    Background Anemia is a disease that can co-exist with depression, other mental disorders, or somatic diseases. Anemia can imitate symptoms of depression, while depression symptoms can mask concurring symptoms of anemia. Case presentation I am presenting a case of a 48-year-old woman with Addison–Biermer anemia, with co-existing mood disorders. The clinical analysis of the presented patient’s history indicates diagnostic problems and a need for a detailed analysis of drug-related complications that occurred during previous treatment, eg, in the form of neuroleptic malignant syndrome. Conclusion The presented case report contains valuable guidelines that can be of assistance in diagnostics and treatment of patients treated for mental disorders, who are also diagnosed with somatic diseases. PMID:25995639

  7. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... be markedly deleterious effects on the nervous system. It is well established that whereas the development of anemia is completely reversible with adequate treatment, the involvement of the nervous...

  8. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... be markedly deleterious effects on the nervous system. It is well established that whereas the development of anemia is completely reversible with adequate treatment, the involvement of the nervous...

  9. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... be markedly deleterious effects on the nervous system. It is well established that whereas the development of anemia is completely reversible with adequate treatment, the involvement of the nervous...

  10. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... be markedly deleterious effects on the nervous system. It is well established that whereas the development of anemia is completely reversible with adequate treatment, the involvement of the nervous...

  11. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... be markedly deleterious effects on the nervous system. It is well established that whereas the development of anemia is completely reversible with adequate treatment, the involvement of the nervous...

  12. Epoetin Alfa in Treating Anemia in Patients Who Are Receiving Chemotherapy

    ClinicalTrials.gov

    2015-07-07

    Anemia; Breast Cancer; Chronic Myeloproliferative Disorders; Drug/Agent Toxicity by Tissue/Organ; Leukemia; Lung Cancer; Lymphoma; Multiple Myeloma and Plasma Cell Neoplasm; Precancerous Condition; Small Intestine Cancer; Unspecified Adult Solid Tumor, Protocol Specific

  13. Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

    PubMed

    Gagne, Katelyn E; Ghazvinian, Roxanne; Yuan, Daniel; Zon, Rebecca L; Storm, Kelsie; Mazur-Popinska, Magdalena; Andolina, Laura; Bubala, Halina; Golebiowska, Sydonia; Higman, Meghan A; Kalwak, Krzysztof; Kurre, Peter; Matysiak, Michal; Niewiadomska, Edyta; Pels, Salley; Petruzzi, Mary Jane; Pobudejska-Pieniazek, Aneta; Szczepanski, Tomasz; Fleming, Mark D; Gazda, Hanna T; Agarwal, Suneet

    2014-07-17

    Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable nonhematologic manifestations, sporadic genetic occurrence, and occasional spontaneous hematologic improvement. Because of the overlapping features and relative rarity of PS, we hypothesized that some patients in whom the leading clinical diagnosis is DBA actually have PS. Here, we evaluated patient DNA samples submitted for DBA genetic studies and found that 8 (4.6%) of 173 genetically uncharacterized patients contained large mtDNA deletions. Only 2 (25%) of the patients had been diagnosed with PS on clinical grounds subsequent to sample submission. We conclude that PS can be overlooked, and that mtDNA deletion testing should be performed in the diagnostic evaluation of patients with congenital anemia. PMID:24735966

  14. A Demonstration of the Molecular Basis of Sickle-Cell Anemia.

    ERIC Educational Resources Information Center

    Fox, Marty; Gaynor, John J.

    1996-01-01

    Describes a demonstration that permits the separation of different hemoglobin molecules within two to three hours. Introduces students to the powerful technique of gel electrophoresis and illustrates the molecular basis of sickle-cell anemia. (JRH)

  15. Preoperative anemia increases postoperative complications and mortality following total joint arthroplasty.

    PubMed

    Viola, Jessica; Gomez, Miguel M; Restrepo, Camilo; Maltenfort, Mitchell G; Parvizi, Javad

    2015-05-01

    Single-institution, large case-controlled study examines the association between preoperative anemia and adverse outcomes following total joint arthroplasty (TJA). We collected data from our institutional database of patients who underwent primary and aseptic revision TJA. Only 2576 patients had anemia preoperatively, and 10,987 patients had hemoglobin within the normal range. Multivariate analysis was used to determine the effect of preoperative anemia on the incidence of medical complications, infection, LOS and mortality. Anemic patients had a higher rate of complications (odds ratio 2.11), namely cardiovascular 26.5% versus 11.8%, and genitourinary 3.9% versus 0.9%. Our study confirms that patients with preoperative anemia are likely to exhibit a higher incidence of postoperative complications following TJA. Preoperative optimization may be needed in an effort to reduce these complications. PMID:25669131

  16. Overlooked Management and Risk Factors for Anemia in Patients with Intestinal Behçet’s Disease in Actual Clinical Practice

    PubMed Central

    Kim, Bun; Park, Soo Jung; Hong, Sung Pil; Cheon, Jae Hee; Kim, Tae Il; Kim, Won Ho

    2015-01-01

    Background/Aims Anemia in patients with inflammatory bowel disease significantly affects the quality of life. The aim of this study was to investigate the frequency of and risk factors for anemia and to describe the management of anemia in patients with intestinal Behçet’s disease (BD) in actual clinical practice. Methods We included 64 patients with intestinal BD who visited the outpatient clinic of a tertiary referral center in June 2011 and had available laboratory data for the subsequent 6 months. Results Anemia was detected in 26 patients (40.6%). After 6 months, anemia was still present in 14 of these patients (53.8%). The cause of anemia was investigated in eight patients (30.8%), and oral iron supplementation was prescribed to four patients (15.4%). Of these four patients, two (50%) recovered completely within 6 months. Anemia was associated with a high Disease Activity Index for Intestinal Behçet’s Disease (DAIBD, p=0.024), erythrocyte sedimentation rate (p=0.003), and C-reactive protein (p=0.049) in univariate analysis. In multivariate analysis, the factor predictive for anemia in patients with intestinal BD was a higher DAIBD (?40; odds ratio, 4.08; 95% confidence interval, 1.21 to 13.71; p=0.023). Conclusions Although anemia is common in intestinal BD patients, its clinical importance is overlooked in daily practice. Moderate to severe disease activity is predictive of anemia. PMID:25963076

  17. Prevalence and severity of anemia among school children in Jimma Town, Southwest Ethiopia

    PubMed Central

    2014-01-01

    Background Anemia is a major health problem worldwide. Because of health and socioeconomic problems, the prevalence of anemia is higher in developing countries. Children and pregnant women are the most vulnerable groups to anemia. The aim of the present study was to determine the magnitude of anemia among school children. Methods A cross-sectional household survey was conducted in January 2011 on 423 children, aged 6–14 years, selected through systematic random sampling method. Sociodemographic and anthropometric data were collected using a pre-tested questionnaire. Capillary blood was taken from the fingertip of each child and hemoglobin was measured using HaemoCue digital photometer. All the necessary safety measures were taken during blood collection. Anthropometric indicators were measured using WHO’s guideline. Data analysis was made using SPSS Version 16.0 for Windows. The association between predictors and outcome variables were measured by a stepwise logistic regression model. Ethical permission was obtained; consent of the parents/guardian was taken and confidentiality was maintained. Result A total of 404 children were studied. The mean age was 10.21(SD?±?1.89) years. The proportion of females was 217(53.7%). The mean hemoglobin level for both sexes was 11.59(SD?±?1.97 g/dl). The current prevalence of anemia was 152(37.6%), out of which, 73(18.1%) had mild while 79(19.6%) of them had moderate anemia. The prevalence of anemia among the age group of 6–11 years was 118(40.5%) while the prevalence among the group of 12–14 years old children was 34(30.1%). Among the selected variables in the logistic regression analysis, low family income [OR?=?4.925, 95% CI(1.063,22.820)], mothers’ education [OR?=?4.621, 95% CI(1.383,15.439)], intake of plant food [OR?=?3.847, 95% CI(2.068, 7.157)] and intake of animal food [OR?=?2.37, 95% CI(1.040,5.402)] were significantly and independently associated with anemia. Conclusion Anemia is a moderate public health problem in the study area. Family income, educational status of parents and inadequate plant and animal food intake are the predictors of anemia. Improving the economic status of the family, women education and health education about balanced animal and plant food consumption are recommended strategies to reduce the burden of anemia. PMID:24433408

  18. Frontal and orbital bone infarctions causing periorbital swelling in patients with sickle cell anemia

    SciTech Connect

    Garty, I.; Koren, A.; Garzozi, H.

    1984-10-01

    Two cases of unilateral and bilateral periorbital hematomas occurred in patients with sickle cell anemia. The cause of periorbital swelling in these cases was found to be orbital and frontal bone infarctions, respectively, diagnosed by technetium Tc 99m medronate bone scintigraphy. To our knowledge, periorbital bone infarction, as a part of the differential diagnosis of periorbital hematoma and as part of the possible ocular manifestations in patients with sickle cell anemia, has not previously been described.

  19. Hashimoto's thyroiditis and acute chest syndrome revealing sickle cell anemia in a 32 years female patient

    PubMed Central

    Igala, Marielle; Nsame, Daniela; Ova, Jennie Dorothée Guelongo Okouango; Cherkaoui, Siham; Oukkach, Bouchra; Quessar, Asmae

    2015-01-01

    Sickle cell anemia results from a single amino acid substitution in the gene encoding the ?-globin subunit. Polymerization of deoxygenated sickle hemoglobin leads to decreased deformability of red blood cells. Hashimoto's thyroiditis is a common thyroid disease now recognized as an auto-immune thyroid disorder, it is usually thought to be haemolytic autoimmune anemia. We report the case of a 32 years old women admitted for chest pain and haemolysis anemia in which Hashimoto's thyroiditis and sickle cell anemia were found. In our observation the patient is a young woman whose examination did not show signs of goitre but the analysis of thyroid function tests performed before an auto-immune hemolytic anemia (confirmed by a high level of unconjugated bilirubin and a Coombs test positive for IgG) has found thyroid stimulating hormone (TSH) and positive thyroid antibody at rates in excess of 4.5 times their normal value. In the same period, as the hemolytic anemia, and before the atypical chest pain and anguish they generated in the patient, the search for hemoglobinopathies was made despite the absence of a family history of haematological disease or painful attacks in childhood. Patient electrophoresis's led to research similar cases in the family. The mother was the first to be analyzed with ultimately diagnosed with sickle cell trait have previously been ignored. This case would be a form with few symptoms because the patient does not describe painful crises in childhood or adolescence. PMID:26327979

  20. Cytokine dysregulation associated with malarial anemia in Plasmodium yoelii infected mice

    PubMed Central

    Xu, Lili; Zheng, Xiaoying; Berzins, Klavs; Chaudhuri, Asok

    2013-01-01

    The mechanisms of malaria anemia remain incompletely understood although much effort has been put on studies in both human and murine systems. Hematopoiesis is regulated by the proliferation, differentiation and maturation of erythropoietic progenitor cells into erythrocytes and is tightly controlled by a complex communication network of cytokines as signal mediators. The present study used the murine P. yoelii 17XNL malaria model to investigate the profile of cytokines and leukocytes throughout the entire infection. Moreover, malaria induced anemia was studied in comparison with anemia induced by hemorrhage and hemolysis. During the P. yoelii infection, the levels of erythropoietic-related cytokines, such as G-CSF, GMCSF, IL-7, and IL-17, were pronouncedly reduced, while those of regulatory cytokines, such as IL-10 and TNF-?, were constantly increased. This cytokine profile corresponded well with the cellular composition during the infection, such as drastically decreased levels of CD4+ and CD8+ T cells. The profiles of erythropoiesis or hematopoiesis related cytokines during malarial anemia showed striking differences from those during anemia induced by hemorrhage or hemolysis. This study demonstrates that a markedly dysregulated cytokine network occurred in this murine malaria model, which may open a new window of insight into the mechanisms of malaria related anemia. PMID:23573367

  1. Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings.

    PubMed

    Mozzillo, Enza; Melis, Daniela; Falco, Mariateresa; Fattorusso, Valentina; Taurisano, Roberta; Flanagan, Sarah E; Ellard, Sian; Franzese, Adriana

    2013-08-01

    Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disease caused by loss of function mutations in the SLC19A2 gene. TRMA is characterized by anemia, deafness, and diabetes. In some cases, optic atrophy or more rarely retinitis pigmentosa is noted. We now report two sisters, the eldest of which presented to a different hospital during childhood with sensorineural deafness, which was treated with a hearing prosthesis, insulin requiring diabetes, retinitis pigmentosa, optic atrophy, and macrocytic anemia. These features initially suggested a clinical diagnosis of Wolfram syndrome (WS). Therapy with thiamine was initiated which resulted in the resolution of the anemia. The younger sister, who was affected with sensorineural deafness, was referred to our hospital for non-autoimmune diabetes. She was found to have macrocytosis and ocular abnormalities. Because a diagnosis of TRMA was suspected, therapy with insulin and thiamine was started. Sequencing analysis of the SLC19A2 gene identified a compound heterozygous mutation p.Y81X/p.L457X (c.242insA/c.1370delT) in both sisters. Non-autoimmune diabetes associated with deafness and macrocytosis, without anemia, suggests a diagnosis of TRMA. Patients clinically diagnosed with WS with anemia and/or macrocytosis should be reevaluated for TRMA. PMID:23289844

  2. Aplastic anemia complicating orthotopic liver transplantation for non-A, non-B hepatitis.

    PubMed

    Tzakis, A G; Arditi, M; Whitington, P F; Yanaga, K; Esquivel, C; Andrews, W A; Makowka, L; Malatak, J; Freese, D K; Stock, P G

    1988-08-18

    Aplastic anemia developed in 9 of 32 patients (28 percent) undergoing orthotopic liver transplantation for acute non-A, non-B hepatitis, at one to seven weeks after the procedure. No patient previously had evidence of hematologic dysfunction or conditions known to be associated with aplastic anemia. No other cases of aplastic anemia were identified among 1463 patients undergoing liver transplantation for all other indications at the four centers participating in the study (chi-square = 415, P less than 0.001; 95 percent confidence interval for the incidence of aplastic anemia after transplantation for non-A, non-B hepatitis, 13 to 44 percent, vs. 0.00 to 0.13 percent for all other indications). The operative and postoperative treatment of these patients was not otherwise different, indicating that the aplastic anemia was a complication of the hepatitis, not of the transplantation procedure. Four of the nine patients died of complications due to infections. Three of the surviving patients have been followed for less than six months, one for one year, and one for two years. The two patients followed the longest have recovered marrow function to an appreciable degree, and two of the others have evidence of early recovery. We conclude that patients undergoing orthotopic liver transplantation for non-A, non-B hepatitis are at a high risk for the development of aplastic anemia. PMID:3135496

  3. APLASTIC ANEMIA COMPLICATING ORTHOTOPIC LIVER TRANSPLANTATION FOR NON-A, NON-B HEPATITIS

    PubMed Central

    Tzakis, A.G.; Arditi, M.; Whitington, P.F.; Yanaga, K.; Esquivel, C.; Andrews, W.A.; Makowka, L.; Malatak, J.; Freese, D.K.; Stock, P.G.; Ascher, N.L.; Johnson, F.L.; Broelsch, C.E.; Starzl, T.E.

    2010-01-01

    Aplastic anemia developed in 9 of 32 patients (28 percent) undergoing orthotopic liver transplantation for acute non-A, non-B hepatitis, at one to seven weeks after the procedure. No patient previously had evidence of hematologic dysfunction or conditions known to be associated with aplastic anemia. No other cases of aplastic anemia were identified among 1463 patients undergoing liver transplantation for all other indications at the four centers participating in the study (chi-square = 415, P<0.001; 95 percent confidence interval for the incidence of aplastic anemia after transplantation for non-A, non-B hepatitis, 13 to 44 percent, vs. 0.00 to 0.13 percent for all other indications). The operative and postoperative treatment of these patients was not otherwise different, indicating that the aplastic anemia was a complication of the hepatitis, not of the transplantation procedure. Four of the nine patients died of complications due to infections. Three of the surviving patients have been followed for less than six months, one for one year, and one for two years. The two patients followed the longest have recovered marrow function to an appreciable degree, and two of the others have evidence of early recovery. We conclude that patients undergoing orthotopic liver transplantation for non-A, non-B hepatitis are at a high risk for the development of aplastic anemia. PMID:3135496

  4. Inhibition of bone morphogenetic protein signaling attenuates anemia associated with inflammation.

    PubMed

    Steinbicker, Andrea U; Sachidanandan, Chetana; Vonner, Ashley J; Yusuf, Rushdia Z; Deng, Donna Y; Lai, Carol S; Rauwerdink, Kristen M; Winn, Julia C; Saez, Borja; Cook, Colleen M; Szekely, Brian A; Roy, Cindy N; Seehra, Jasbir S; Cuny, Gregory D; Scadden, David T; Peterson, Randall T; Bloch, Kenneth D; Yu, Paul B

    2011-05-01

    Anemia of inflammation develops in settings of chronic inflammatory, infectious, or neoplastic disease. In this highly prevalent form of anemia, inflammatory cytokines, including IL-6, stimulate hepatic expression of hepcidin, which negatively regulates iron bioavailability by inactivating ferroportin. Hepcidin is transcriptionally regulated by IL-6 and bone morphogenetic protein (BMP) signaling. We hypothesized that inhibiting BMP signaling can reduce hepcidin expression and ameliorate hypoferremia and anemia associated with inflammation. In human hepatoma cells, IL-6-induced hepcidin expression, an effect that was inhibited by treatment with a BMP type I receptor inhibitor, LDN-193189, or BMP ligand antagonists noggin and ALK3-Fc. In zebrafish, the induction of hepcidin expression by transgenic expression of IL-6 was also reduced by LDN-193189. In mice, treatment with IL-6 or turpentine increased hepcidin expression and reduced serum iron, effects that were inhibited by LDN-193189 or ALK3-Fc. Chronic turpentine treatment led to microcytic anemia, which was prevented by concurrent administration of LDN-193189 or attenuated when LDN-193189 was administered after anemia was established. Our studies support the concept that BMP and IL-6 act together to regulate iron homeostasis and suggest that inhibition of BMP signaling may be an effective strategy for the treatment of anemia of inflammation. PMID:21393479

  5. Prevalence of anemia among Quebec Cree infants from 2002 to 2007 compared with 1995 to 2000

    PubMed Central

    Willows, Noreen; Dannenbaum, David; Vadeboncoeur, Sophie

    2012-01-01

    Abstract Objective To determine if screening of infants for anemia at 9 months in the Cree region of Quebec should continue, by comparing the prevalence of anemia in the initial years of screening (1995 to 2000) with prevalence data from infants screened between 2002 and 2007. Design Comparison of anemia prevalence from 2 cross-sectional surveys. Nonoverlapping 95% CIs were used to determine if results were significantly different. Setting Nine Quebec Cree communities. Participants Infants screened for anemia between 1995 and 2000 (n = 716) or 2002 and 2007 (n = 1325). Main outcome measures Anemia was diagnosed based on hemoglobin concentration. An erythrocyte mean cell volume of less than 71 fL was used as a proxy for iron deficiency. Results Hemoglobin concentration among infants screened from 2002 to 2007 was, on average, 7 g/L greater than among infants screened from 1995 to 2000 (mean [standard deviation] 121 [11] g/L vs 114 [11] g/L). The prevalence of anemia (hemoglobin < 110 g/L) from 1995 to 2000 was 31.7% (95% CI 28.3% to 35.1%), but from 2002 to 2007 it was significantly lower at 12.5% (95% CI 10.7% to 14.2%). Using a hemoglobin concentration more specific to iron deficiency anemia (IDA) (hemoglobin < 100 g/L), from 1995 to 2000 7.5% (95% CI 5.6% to 9.4%) of infants had IDA, whereas from 2002 to 2007 only 2.0% (95% CI 1.2% to 2.8%) had IDA. The prevalence of iron deficiency based on mean cell volume declined from 18.3% (95% CI 15.5% to 21.1%) from 1995 to 2000 to 4.2% (95% CI 3.1% to 5.3%) from 2002 to 2007. Conclusion The 12.5% prevalence of anemia (hemoglobin < 110 g/L) among Cree infants from 2002 to 2007 was much lower than the prevalence from 1995 to 2000 but somewhat higher than among nonaboriginal infants (8.0%). The low anemia prevalence among Quebec Cree infants after 2002 suggests that replacing universal screening with targeted screening of higher-risk infants needs to be considered following studies to identify risk factors for anemia. PMID:22439171

  6. Independent Association of Circulating Vitamin D Metabolites with Anemia Risk in Patients Scheduled for Cardiac Surgery

    PubMed Central

    Becker, Tobias; Kuhn, Joachim; Gummert, Jan F.

    2015-01-01

    Background Preoperative anemia is considered an independent risk factor of poor clinical outcome in cardiac surgical patients. Low vitamin D status may increase anemia risk. Methods We investigated 3,615 consecutive patients scheduled for cardiac surgery to determine the association between preoperative anemia (hemoglobin [Hb] <12.5 g/dL) and circulating levels of the vitamin D metabolites 25-hydroxyvitamin D (25OHD) and 1,25-dihydroxyvitamin D (1,25[OH]2D). Results Of the study cohort, 27.8 % met the criteria for anemia. In patients with deficient 25OHD levels (<30 nmol/l) mean Hb concentrations were 0.5 g/dL lower than in patients with adequate 25OHD levels (50.0–125 nmol/l; P<0.001). Regarding 1,25(OH)2D, mean Hb concentrations were 1.2 g/dL lower in the lowest 1,25(OH)2D category (<40 pmol/l) than in the highest 1,25(OH)2D category (>70 pmol/l; P<0.001). In multivariable–adjusted logistic regression analyses, the odds ratios for anemia of the lowest categories of 25OHD and 1,25(OH)2D were 1.48 (95%CI:1.19-1.83) and 2.35 (95%CI:1.86-2.97), compared with patients who had adequate 25OHD levels and 1,25(OH)2D values in the highest category, respectively. Anemia risk was greatest in patients with dual deficiency of 25OHD and 1,25(OH)2D (multivariable-adjusted OR = 3.60 (95%CI:2.40-5.40). Prevalence of deficient 25OHD levels was highest in anemia of nutrient deficiency, whereas low 1,25(OH)2D levels were most frequent in anemia of chronic kidney disease. Conclusion This cross-sectional study demonstrates an independent inverse association between vitamin D status and anemia risk. If confirmed in clinical trials, preoperative administration of vitamin D or activated vitamin D (in case of chronic kidney disease) would be a promising strategy to prevent anemia in patients scheduled for cardiac surgery. PMID:25885271

  7. Growth Patterns in Children with Sickle Cell Anemia during Puberty

    PubMed Central

    Rhodes, Melissa; Akohoue, Sylvie A.; Shankar, Sadhna M.; Fleming, Irma; An, Angel; Yu, Chung; Acra, Sari; Buchowski, Maciej S.

    2009-01-01

    Background Previous studies of children with homozygous sickle cell anemia (SCA) show impaired growth and maturation. The correlation of this suboptimal growth with metabolic and hematological factors during puberty is poorly understood. Procedure We studied a group of pre-adolescent children with SCA (19 males, 14 females) and healthy controls (16 males, 15 females) matched for race, sex, body size, and pubertal development. Height, weight, body mass index (BMI), and body composition changes were longitudinally assessed over a 2-year period and compared between the groups and with Z scores based on US growth charts. These changes were correlated with hemoglobin concentration and with energy expenditure measured using indirect whole-room calorimetry. Results Children with SCA progressed through puberty slower than control children. While, after 2 years, pubertal males with SCA were shorter, their annual increases in weight were not different from controls. The mean fat free mass (FFM) increments were significantly less in males and females with SCA than in control children. In males with SCA, growth in height declined over time and was significantly slower than in matched controls (p<0.05). Conclusion Growth delays were present during puberty in children with SCA. Decreased growth velocity in children with SCA was independently associated with decreased hemoglobin concentration and increased total energy expenditure. PMID:19544390

  8. Targeted gene therapy and cell reprogramming in Fanconi anemia

    PubMed Central

    Rio, Paula; Baños, Rocio; Lombardo, Angelo; Quintana-Bustamante, Oscar; Alvarez, Lara; Garate, Zita; Genovese, Pietro; Almarza, Elena; Valeri, Antonio; Díez, Begoña; Navarro, Susana; Torres, Yaima; Trujillo, Juan P; Murillas, Rodolfo; Segovia, Jose C; Samper, Enrique; Surralles, Jordi; Gregory, Philip D; Holmes, Michael C; Naldini, Luigi; Bueren, Juan A

    2014-01-01

    Gene targeting is progressively becoming a realistic therapeutic alternative in clinics. It is unknown, however, whether this technology will be suitable for the treatment of DNA repair deficiency syndromes such as Fanconi anemia (FA), with defects in homology-directed DNA repair. In this study, we used zinc finger nucleases and integrase-defective lentiviral vectors to demonstrate for the first time that FANCA can be efficiently and specifically targeted into the AAVS1 safe harbor locus in fibroblasts from FA-A patients. Strikingly, up to 40% of FA fibroblasts showed gene targeting 42 days after gene editing. Given the low number of hematopoietic precursors in the bone marrow of FA patients, gene-edited FA fibroblasts were then reprogrammed and re-differentiated toward the hematopoietic lineage. Analyses of gene-edited FA-iPSCs confirmed the specific integration of FANCA in the AAVS1 locus in all tested clones. Moreover, the hematopoietic differentiation of these iPSCs efficiently generated disease-free hematopoietic progenitors. Taken together, our results demonstrate for the first time the feasibility of correcting the phenotype of a DNA repair deficiency syndrome using gene-targeting and cell reprogramming strategies. PMID:24859981

  9. Traditional Herbal Management of Sickle Cell Anemia: Lessons from Nigeria

    PubMed Central

    Ameh, Sunday J.; Tarfa, Florence D.; Ebeshi, Benjamin U.

    2012-01-01

    Background. Patients in West Africa where sickle cell anemia (SCA) is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea) were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort. PMID:23198140

  10. Developmental Function in Toddlers With Sickle Cell Anemia

    PubMed Central

    Elkin, T. David; Brown, R. Clark; Glass, Penny; Rana, Sohail; Casella, James F.; Kalpatthi, Ram V.; Pavlakis, Steven; Mi, Zhibao; Wang, Winfred C.

    2013-01-01

    BACKGROUND: Neurocognitive impairment occurs in children and adults with sickle cell anemia, but little is known about neurodevelopment in very young children. We examined the neurodevelopmental status of infants participating in the Pediatric Hydroxyurea Phase III Clinical Trial (Baby Hug) to determine relationships with age, cerebral blood flow velocity, and hemoglobin concentration. METHODS: Standardized measures of infant neurodevelopment were administered to 193 infants with hemoglobin SS or hemoglobin S-?0 thalassemia between 7 and 18 months of age at the time of their baseline evaluation. Associations between neurodevelopmental scores and age, family income, parent education, hemoglobin concentration, and transcranial Doppler velocity were examined. RESULTS: Mean functioning on the baseline neurodevelopment scales was in the average range. There were no mental development scores <70 (impaired); 22 children had scores in the clinically significant range, 11 with impaired psychomotor scores and 11 with problematic behavior rating scores. Significantly poorer performance was observed with older age at baseline. Behavior rating scores were an average of 2.82 percentile points lower per month of age, with similar patterns observed with parent report using adaptive behavior scales. Parent-reported functional abilities and hemoglobin were negatively associated with higher transcranial Doppler velocities. CONCLUSIONS: Whereas overall functioning was in the normal range, behavioral and adaptive function was poorer with older age, even in this very young group of children. Explanatory mechanisms for this association between poorer developmental function and older age need to be identified. PMID:23296434

  11. Pagophagia improves neuropsychological processing speed in iron-deficiency anemia.

    PubMed

    Hunt, Melissa G; Belfer, Samuel; Atuahene, Brittany

    2014-10-01

    Pagophagia (compulsive ice chewing) has long been associated with iron deficiency anemia, but prior attempts to account for this craving have been unsatisfactory. We hypothesize that chewing ice triggers vascular changes that lead to preferential or increased perfusion of the brain. This would result in increased alertness and processing speed in anemic patients, but not in healthy controls who are already at ceiling, and would explain why anemic individuals crave ice. Preliminary support for this hypothesis was found in two studies. In Study 1, non-anemic subjects reported very low rates of pagophagia (only 4%) while anemic subjects reported significantly higher rates (56%). In Study 2, chewing ice dramatically improved response time on a neuropsychological test, but only for anemic individuals. In a small randomized controlled trial, iron deficient anemic subjects and healthy controls were assigned to chew ice or drink tepid water and then took a continuous performance test that measures response time, response time variability, errors of impulsivity and errors of inattention. In the water condition, anemic subjects performed significantly worse than healthy controls. Chewing ice had no effect on the performance of healthy controls, but significantly improved the performance of anemic patients. Potential explanations include activation of the dive reflex, which would lead to peripheral vasoconstriction and preferential perfusion of the brain or, alternatively, sympathetic nervous system activation, which would also increase blood-flow to the brain. PMID:25169035

  12. Management of hemolytic anemia following allogeneic stem cell transplantation.

    PubMed

    Holbro, Andreas; Passweg, Jakob R

    2015-12-01

    Hemolytic anemia (HA) is a frequent condition with variable pathophysiology. Hematopoietic stem cell transplantation (HSCT) is unique because it is performed across the ABO blood group barrier. Thereby, there is a transfer of plasma, red blood cells, and immunocompetent cells from the donor to the recipient, possibly leading to HA, due to red blood cell incompatibility. The underlying disease, drugs (particularly those used for conditioning and immunosuppressants), infections, graft-versus-host disease, and autoimmune diseases may all contribute to the clinical and laboratory picture of HA. Additionally, transplantation-associated thrombotic microangiopathy (TA-TMA) may occur and is associated with significant morbidity and mortality. This review highlights the current knowledge on HA after allogeneic HSCT, particularly due to ABO incompatibility. We follow the timeline of the transplantation process and discuss investigations, differential diagnosis, and prophylactic measures including graft processing to avoid hemolysis in case of ABO incompatibility. Finally, current therapeutic approaches for both TA-TMA and post-HSCT autoimmune HA, which are associated with high morbidity and mortality, are discussed. PMID:26637746

  13. Altered translation of GATA1 in Diamond-Blackfan anemia

    PubMed Central

    Ludwig, Leif S.; Gazda, Hanna T.; Eng, Jennifer C.; Eichhorn, Stephen W.; Thiru, Prathapan; Ghazvinian, Roxanne; George, Tracy I.; Gotlib, Jason R.; Beggs, Alan H.; Sieff, Colin A.; Lodish, Harvey F.; Lander, Eric S.; Sankaran, Vijay G.

    2014-01-01

    Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA),1,2 congenital asplenia,3 and T-cell leukemia.4 Yet how mutations in such ubiquitously expressed proteins result in cell-type and tissue specific defects remains a mystery.5 Here, we show that GATA1 mutations that reduce full-length protein levels of this critical hematopoietic transcription factor can cause DBA in rare instances. We show that ribosomal protein haploinsufficiency, the more common cause of DBA, can similarly reduce translation of GATA1 mRNA - a phenomenon that appears to result from this mRNA having a higher threshold for initiation of translation. In primary hematopoietic cells from patients with RPS19 mutations, a transcriptional signature of GATA1 target genes is globally and specifically reduced, confirming that the activity, but not the mRNA level, of GATA1 is reduced in DBA patients with ribosomal protein mutations. The defective hematopoiesis observed in DBA patients with ribosomal protein haploinsufficiency can be at least partially overcome by increasing GATA1 protein levels. Our results provide a paradigm by which selective defects in translation due to mutations in ubiquitous ribosomal proteins can result in human disease. PMID:24952648

  14. Altered translation of GATA1 in Diamond-Blackfan anemia.

    PubMed

    Ludwig, Leif S; Gazda, Hanna T; Eng, Jennifer C; Eichhorn, Stephen W; Thiru, Prathapan; Ghazvinian, Roxanne; George, Tracy I; Gotlib, Jason R; Beggs, Alan H; Sieff, Colin A; Lodish, Harvey F; Lander, Eric S; Sankaran, Vijay G

    2014-07-01

    Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA), congenital asplenia and T cell leukemia. Yet, how mutations in genes encoding ubiquitously expressed proteins such as these result in cell-type- and tissue-specific defects remains unknown. Here, we identify mutations in GATA1, encoding the critical hematopoietic transcription factor GATA-binding protein-1, that reduce levels of full-length GATA1 protein and cause DBA in rare instances. We show that ribosomal protein haploinsufficiency, the more common cause of DBA, can lead to decreased GATA1 mRNA translation, possibly resulting from a higher threshold for initiation of translation of this mRNA in comparison with other mRNAs. In primary hematopoietic cells from patients with mutations in RPS19, encoding ribosomal protein S19, the amplitude of a transcriptional signature of GATA1 target genes was globally and specifically reduced, indicating that the activity, but not the mRNA level, of GATA1 is decreased in patients with DBA associated with mutations affecting ribosomal proteins. Moreover, the defective hematopoiesis observed in patients with DBA associated with ribosomal protein haploinsufficiency could be partially overcome by increasing GATA1 protein levels. Our results provide a paradigm by which selective defects in translation due to mutations affecting ubiquitous ribosomal proteins can result in human disease. PMID:24952648

  15. New Insights in the Pathogenesis of Autoimmune Hemolytic Anemia

    PubMed Central

    Barcellini, Wilma

    2015-01-01

    Summary Autoimmune hemolytic anemia (AIHA) is caused by the increased destruction of red blood cells (RBCs) by anti-RBC autoantibodies with or without complement activation. RBC destruction may occur both by a direct lysis through the sequential activation of the final components of the complement cascade (membrane attack complex), or by antibody-dependent cell-mediated cytotoxicity (ADCC). The pathogenic role of autoantibodies depends on their class (the most frequent are IgG and IgM), subclass, thermal amplitude (warm and cold forms),as well as affinity and efficiency in activating complement. Several cytokines and cytotoxic mechanisms (CD8+ T and natural killer cells) are further involved in RBC destruction. Moreover, activated macrophages carrying Fc receptors may recognize and phagocyte erythrocytes opsonized by autoantibodies and complement. Direct complement-mediated lysis takes place mainly in the circulations and liver, whereas ADCC, cytotoxicity, and phagocytosis occur preferentially in the spleen and lymphoid organs. The degree of intravascular hemolysis is 10-fold greater than extravascular one. Finally, the efficacy of the erythroblastic compensatory response can greatly influence the clinical picture of AIHA. The interplay and relative burden of all these pathogenic mechanisms give reason for the great clinical heterogeneity of AIHAs, from fully compensated to rapidly evolving fatal cases. PMID:26696796

  16. The fanconi anemia pathway limits human papillomavirus replication.

    PubMed

    Hoskins, Elizabeth E; Morreale, Richard J; Werner, Stephen P; Higginbotham, Jennifer M; Laimins, Laimonis A; Lambert, Paul F; Brown, Darron R; Gillison, Maura L; Nuovo, Gerard J; Witte, David P; Kim, Mi-Ok; Davies, Stella M; Mehta, Parinda A; Butsch Kovacic, Melinda; Wikenheiser-Brokamp, Kathryn A; Wells, Susanne I

    2012-08-01

    High-risk human papillomaviruses (HPVs) deregulate epidermal differentiation and cause anogenital and head and neck squamous cell carcinomas (SCCs). The E7 gene is considered the predominant viral oncogene and drives proliferation and genome instability. While the implementation of routine screens has greatly reduced the incidence of cervical cancers which are almost exclusively HPV positive, the proportion of HPV-positive head and neck SCCs is on the rise. High levels of HPV oncogene expression and genome load are linked to disease progression, but genetic risk factors that regulate oncogene abundance and/or genome amplification remain poorly understood. Fanconi anemia (FA) is a genome instability syndrome characterized at least in part by extreme susceptibility to SCCs. FA results from mutations in one of 15 genes in the FA pathway, whose protein products assemble in the nucleus and play important roles in DNA damage repair. We report here that loss of FA pathway components FANCA and FANCD2 stimulates E7 protein accumulation in human keratinocytes and causes increased epithelial proliferation and basal cell layer expansion in the HPV-positive epidermis. Additionally, FANCD2 loss stimulates HPV genome amplification in differentiating cells, demonstrating that the intact FA pathway functions to restrict the HPV life cycle. These findings raise the possibility that FA genes suppress HPV infection and disease and suggest possible mechanism(s) for reported associations of HPV with an FA cohort in Brazil and for allelic variation of FA genes with HPV persistence in the general population. PMID:22623785

  17. Modularized functions of the Fanconi anemia core complex.

    PubMed

    Huang, Yaling; Leung, Justin W C; Lowery, Megan; Matsushita, Nobuko; Wang, Yucai; Shen, Xi; Huong, Do; Takata, Minoru; Chen, Junjie; Li, Lei

    2014-06-26

    The Fanconi anemia (FA) core complex provides the essential E3 ligase function for spatially defined FANCD2 ubiquitination and FA pathway activation. Of the seven FA gene products forming the core complex, FANCL possesses a RING domain with demonstrated E3 ligase activity. The other six components do not have clearly defined roles. Through epistasis analyses, we identify three functional modules in the FA core complex: a catalytic module consisting of FANCL, FANCB, and FAAP100 is absolutely required for the E3 ligase function, and the FANCA-FANCG-FAAP20 and the FANCC-FANCE-FANCF modules provide nonredundant and ancillary functions that help the catalytic module bind chromatin or sites of DNA damage. Disruption of the catalytic module causes complete loss of the core complex function, whereas loss of any ancillary module component does not. Our work reveals the roles of several FA gene products with previously undefined functions and a modularized assembly of the FA core complex. PMID:24910428

  18. Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.

    PubMed

    Flynn, Elizabeth K; Kamat, Aparna; Lach, Francis P; Donovan, Frank X; Kimble, Danielle C; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M; Gillio, Alfred P; Harris, Richard E; MacMillan, Margaret L; Wagner, John E; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A; Chandrasekharappa, Settara C

    2014-11-01

    Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using high-resolution comparative genome hybridization arrays, single-nucleotide polymorphism arrays, and DNA sequencing. We found pathogenic deletions in 88 FANCA, seven FANCC, two FANCD2, and one FANCB families. We find 35% of FA families carry large deletions, accounting for 18% of all FA pathogenic variants. Cloning and sequencing across the deletion breakpoints revealed that 52 FANCA deletion ends, and one FANCC deletion end extended beyond the gene boundaries, potentially affecting neighboring genes with phenotypic consequences. Seventy-five percent of the FANCA deletions are Alu-Alu mediated, predominantly by AluY elements, and appear to be caused by nonallelic homologous recombination. Individual Alu hotspots were identified. Defining the haplotypes of four FANCA deletions shared by multiple families revealed that three share a common ancestry. Knowing the exact molecular changes that lead to the disease may be critical for a better understanding of the FA phenotype, and to gain insight into the mechanisms driving these pathogenic deletion variants. PMID:25168418

  19. Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

    PubMed Central

    Flynn, Elizabeth K.; Kamat, Aparna; Lach, Francis P.; Donovan, Frank X.; Kimble, Danielle C.; Narisu, Narisu; Sanborn, Erica; Boulad, Farid; Davies, Stella M.; Gillio, Alfred P.; Harris, Richard E.; MacMillan, Margaret L.; Wagner, John E.; Smogorzewska, Agata; Auerbach, Arleen D.; Ostrander, Elaine A.; Chandrasekharappa, Settara C.

    2014-01-01

    Fanconi anemia (FA) is a rare recessive disease resulting from mutations in one of at least 16 different genes. Mutation types and phenotypic manifestations of FA are highly heterogeneous and influence the clinical management of the disease. We analyzed 202 FA families for large deletions, using high-resolution Comparative Genome Hybridization arrays (arrayCGH), Single Nucleotide Polymorphism arrays (SNParrays) and DNA sequencing. We found pathogenic deletions in 88 FANCA, seven FANCC, two FANCD2, and one FANCB families. We find 35% of FA families carry large deletions, accounting for 18% of all FA pathogenic variants. Cloning and sequencing across the deletion breakpoints revealed that 52 FANCA deletion ends, and one FANCC deletion end extended beyond the gene boundaries, potentially affecting neighboring genes with phenotypic consequences. Seventy-five percent of the FANCA deletions are Alu-Alu mediated, predominantly by AluY elements, and appear to be caused by Non-Allelic Homologous Recombination. Individual Alu hotspots were identified. Defining the haplotypes of four FANCA deletions shared by multiple families revealed that three share a common ancestry. Knowing the exact molecular changes that lead to the disease may be critical for a better understanding of the FA phenotype, and to gain insight into the mechanisms driving these pathogenic deletion variants. PMID:25168418

  20. Dysregulated Ca2+ homeostasis in Fanconi anemia cells.

    PubMed

    Usai, Cesare; Ravera, Silvia; Cuccarolo, Paola; Panfoli, Isabella; Dufour, Carlo; Cappelli, Enrico; Degan, Paolo

    2015-01-01

    Fanconi Anemia (FA) is a rare and complex inherited blood disorder associated with bone marrow failure and malignancies. Many alterations in FA physiology appear linked to red-ox unbalance including alterations in the morphology and structure of nuclei, intermediate filaments and mitochondria, defective respiration, reduced ATP production and altered ATP/AMP ratio. These defects are consistently associated with impaired oxygen metabolism indeed treatment with antioxidants N-acetylcysteine (NAC) and resveratrol (RV) does rescue FA physiology. Due to the importance of the intracellular calcium signaling and its key function in the control of intracellular functions we were interested to study calcium homeostasis in FA. We found that FANCA cells display a dramatically low intracellular calcium concentration ([Ca(2+)]i) in resting conditions. This condition affects cellular responses to stress. The flux of Ca(2+) mobilized by H2O2 from internal stores is significantly lower in FANCA cells in comparison to controls. The low basal [Ca(2+)]i in FANCA appears to be an actively maintained process controlled by a finely tuned interplay between different intracellular Ca(2+) stores. The defects associated with the altered Ca(2+) homeostasis appear consistently overlapping those related to the unbalanced oxidative metabolism in FA cells underlining a contiguity between oxidative stress and calcium homeostasis. PMID:25627108

  1. Dysregulated Ca2+ Homeostasis in Fanconi anemia cells

    PubMed Central

    Usai, Cesare; Ravera, Silvia; Cuccarolo, Paola; Panfoli, Isabella; Dufour, Carlo; Cappelli, Enrico; Degan, Paolo

    2015-01-01

    Fanconi Anemia (FA) is a rare and complex inherited blood disorder associated with bone marrow failure and malignancies. Many alterations in FA physiology appear linked to red-ox unbalance including alterations in the morphology and structure of nuclei, intermediate filaments and mitochondria, defective respiration, reduced ATP production and altered ATP/AMP ratio. These defects are consistently associated with impaired oxygen metabolism indeed treatment with antioxidants N-acetylcysteine (NAC) and resveratrol (RV) does rescue FA physiology. Due to the importance of the intracellular calcium signaling and its key function in the control of intracellular functions we were interested to study calcium homeostasis in FA. We found that FANCA cells display a dramatically low intracellular calcium concentration ([Ca2+]i) in resting conditions. This condition affects cellular responses to stress. The flux of Ca2+ mobilized by H2O2 from internal stores is significantly lower in FANCA cells in comparison to controls. The low basal [Ca2+]i in FANCA appears to be an actively maintained process controlled by a finely tuned interplay between different intracellular Ca2+ stores. The defects associated with the altered Ca2+ homeostasis appear consistently overlapping those related to the unbalanced oxidative metabolism in FA cells underlining a contiguity between oxidative stress and calcium homeostasis. PMID:25627108

  2. Targeted gene therapy and cell reprogramming in Fanconi anemia.

    PubMed

    Rio, Paula; Baños, Rocio; Lombardo, Angelo; Quintana-Bustamante, Oscar; Alvarez, Lara; Garate, Zita; Genovese, Pietro; Almarza, Elena; Valeri, Antonio; Díez, Begoña; Navarro, Susana; Torres, Yaima; Trujillo, Juan P; Murillas, Rodolfo; Segovia, Jose C; Samper, Enrique; Surralles, Jordi; Gregory, Philip D; Holmes, Michael C; Naldini, Luigi; Bueren, Juan A

    2014-06-01

    Gene targeting is progressively becoming a realistic therapeutic alternative in clinics. It is unknown, however, whether this technology will be suitable for the treatment of DNA repair deficiency syndromes such as Fanconi anemia (FA), with defects in homology-directed DNA repair. In this study, we used zinc finger nucleases and integrase-defective lentiviral vectors to demonstrate for the first time that FANCA can be efficiently and specifically targeted into the AAVS1 safe harbor locus in fibroblasts from FA-A patients. Strikingly, up to 40% of FA fibroblasts showed gene targeting 42 days after gene editing. Given the low number of hematopoietic precursors in the bone marrow of FA patients, gene-edited FA fibroblasts were then reprogrammed and re-differentiated toward the hematopoietic lineage. Analyses of gene-edited FA-iPSCs confirmed the specific integration of FANCA in the AAVS1 locus in all tested clones. Moreover, the hematopoietic differentiation of these iPSCs efficiently generated disease-free hematopoietic progenitors. Taken together, our results demonstrate for the first time the feasibility of correcting the phenotype of a DNA repair deficiency syndrome using gene-targeting and cell reprogramming strategies. PMID:24859981

  3. Molecular and biological characterization of equine infectious anemia virus Rev.

    PubMed

    Carpenter, Susan; Dobbs, Drena

    2010-01-01

    Equine infectious anemia virus (EIAV) is one of the most divergent members of the lentivirus subfamily of retroviruses and is considered a useful comparative model for molecular studies of lentivirus replication. The Rev protein of EIAV is functionally homologous with other lentiviral Revs and facilitates export of incompletely spliced viral mRNAs through a Crm1-dependent pathway. The trans- and cis-acting elements that mediate EIAV Rev function are similar to, but distinct from, the well-characterized elements in human immunodeficiency virus (HIV-1), the prototypical Rev protein. In addition, the EIAV rev sequence is highly variable in vivo, and changes in Rev phenotype correlate with changes in clinical stages of EIAV infection. This review summarizes the molecular biology of EIAV Rev-RRE interactions and the consequences of Rev variation in vivo. A comparative perspective of Rev activity may enhance understanding of an essential lentiviral protein and stimulate new strategies for treatment and prevention of lentivirus infections in vivo. PMID:20210784

  4. Mechanism of vaso-occlusion in sickle cell anemia

    NASA Astrophysics Data System (ADS)

    Lei, Huan; Karniadakis, George

    2012-11-01

    Vaso-occlusion crisis is one of the key hallmark of sickle cell anemia. While early studies suggested that the crisis is caused by blockage of a single elongated cell, recent experimental investigations indicate that vaso-occlusion is a complex process triggered by adhesive interactions among different cell groups in multiple stages. Based on dissipative particle dynamics, a multi-scale model for the sickle red blood cells (SS-RBCs), accounting for diversity in both shapes and cell rigidities, is developed to investigate the mechanism of vaso-occlusion crisis. Using this model, the adhesive dynamics of single SS-RBC was investigated in arterioles. Simulation results indicate that the different cell groups (deformable SS2 RBCs, rigid SS4 RBCs, leukocytes, etc.) exhibit heterogeneous adhesive behavior due to the different cell morphologies and membrane rigidities. We further simulate the tube flow of SS-RBC suspensions with different cell fractions. The more adhesive SS2 cells interact with the vascular endothelium and further trap rigid SS4 cells, resulting in vaso-occlusion in vessels less than 15 ?m . Under inflammation, adherent leukocytes may also trap SS4 cells, resulting in vaso-occlusion in even larger vessels. This work was supported by the NSF grant CBET-0852948 and the NIH grant R01HL094270.

  5. Necesidades nutricionales a simple vista

    E-print Network

    (DRIs): planificar y evaluar el insumo alimentario de personas con buena salud Eczema: un estado recomendadas (RDA): crecimiento y salud óptima en personas de 25 a 50 años de edad Raquitismo: deformación de

  6. THE PREVALENCE OF ANEMIA IN CENTRAL AND EASTERN CHINA: EVIDENCE FROM THE CHINA HEALTH AND NUTRITION SURVEY.

    PubMed

    Li, Liying; Luo, Renfu; Medina, Alexis; Rozelle, Scott

    2015-03-01

    Although China has experienced rapid economic growth over the past few decades, significant health and nutritional problems remain. Little work has been done to track basic diseases, such as iron-deficiency anemia, so the exact prevalence of these health problems is unknown. The goals of this study were to assess the prevalence of anemia in China and identify individual, household and community-based factors associated with anemia. We used data from the 2009 China Health and Nutrition Survey (CHNS), including the measurement of hemoglobin levels among 7,261 individuals from 170 communities and 7 provinces in central and eastern China. The overall prevalence of anemia was 13.4% using the WHO's blood hemoglobin thresholds (1968). This means in China's more developed central and eastern regions up to 180 million people may be anemic. Some vulnerable subgroups were disproportionately affected by anemia. Seniors (aged 60 years and above) were more likely to be anemic than younger age cohorts, and females had higher anemia prevalence among all age groups except among children aged 7 to 14 years. We found a negative correlation between household wealth and the presence of anemia, suggesting anemia prevalence may decline as China's economy grows. However, the prevalence of anemia was greater in migrant households, which should be experiencing an improved economic status. PMID:26513934

  7. Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents

    ClinicalTrials.gov

    2013-11-21

    Fanconi Anemia; Autosomal or Sex Linked Recessive Genetic Disease; Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.; Hematopoiesis Maintainance.

  8. Anemia and Iron Deficiency in School Children, Adolescents, and Adults: A Community-Based Study in Rural Amazonia

    PubMed Central

    Ferreira, Marcelo U.; da Silva-Nunes, Mônica; Bertolino, Carla N.; Malafronte, Rosely S.; Muniz, Pascoal T.; Cardoso, Marly A.

    2007-01-01

    We investigated the prevalence and risk factors of anemia and iron deficiency in 398 rural Amazonians aged 5–90 years in Acre, Brazil. Anemia and iron deficiency were diagnosed in 16% and 19% of the population, respectively. Anemia was likely to have multiple causes; although nearly half of anemic school children and women had altered iron status indicators, only 19.7% of overall anemia was attributable to iron deficiency. Geo-helminth infection and a recent malaria episode were additional factors affecting iron status indicators in this population. PMID:17194861

  9. Radiation Therapy and Cisplatin With or Without Epoetin Alfa in Treating Patients With Cervical Cancer and Anemia

    ClinicalTrials.gov

    2014-12-29

    Anemia; Cervical Adenocarcinoma; Cervical Adenosquamous Carcinoma; Cervical Squamous Cell Carcinoma; Drug Toxicity; Radiation Toxicity; Stage IIB Cervical Cancer; Stage III Cervical Cancer; Stage IVA Cervical Cancer

  10. Iron deficiency anemia among kindergarten children living in the marginalized areas of Gaza Strip, Palestine

    PubMed Central

    Sirdah, Mahmoud Mohammed; Yaghi, Ayed; Yaghi, Abdallah R.

    2014-01-01

    Background: iron deficiency anemia is the most common type of nutritional anemia; it has been recognized as an important health problem in Palestine. This study was conducted to estimate the prevalence and to identify possible risk factors of iron deficiency anemia among kindergarten children living in the marginalized areas of the Gaza Strip and to evaluate the effectiveness of supplementing oral iron formula in the anemic children. Methods: the study included 735 (384 male and 351 female) kindergarten children. Data was collected by questionnaire interviews, anthropometric measurements, and complete blood count analysis. All iron deficient anemic children were treated using an oral iron formula (50 mg ferrous carbonate + 100 mg vitamin C /5 mL) and the complete blood count was reassessed after three months. A univariate analysis and a multiple logistic regression model were constructed; crude and adjusted odds ratios (OR), and 95% confidence intervals (95% CI) were calculated. Results: the overall prevalence of iron deficiency anemia was 33.5% with no significant differences between boys and girls. Significantly different prevalences of iron deficiency anemia were reported between different governorates of the Gaza Strip. Governorate, low education level of the parents and smoking are significant risk factors for children developing anemia. Significantly lower complete blood count parameters, except for WBC, were reported in anemic children. The oral iron treatment significantly improved hemoglobin concentrations, and normalized the iron deficiency marker. Conclusions: iron deficiency anemia is a serious health problem among children living in the marginalized areas of the Gaza Strip, which justifies the necessity for national intervention programs to improve the health status for the less fortunate development areas. PMID:24790539

  11. Low baseline serum albumin as a predictor of anemia in chronic hemodialysis patients

    PubMed Central

    Heidari, Behzad; Taheri, Hassan; Hajian-Tilaki, Karimollah; Yolmeh, Mehdi; Akbari, Roghayeh

    2015-01-01

    Background: Inflammatory process has a substantial contribution in the development of anemia in chronic hemodialysis patients. Low serum albumin in hemodialysis patients is considered a marker of inflammation. The present longitudinal study aimed to determine the relationship between low baseline serum albumin and future development of anemia. Methods: The population of this study consisted of all patients on standard maintenance hemodialysis for at least three months or longer. Patients were classified as high or low serum albumin level (? or < 3.9 gr/dl). All patients received the standard treatment of anemia. The main objective of this study was to compare the prevalence of anemia defined as hemoglobin levels < 11 gr/dl between the two study groups at the end of the study period. Results: A total of 82 patients (50% females) with mean±SD age of 55±16.8 years and mean dialysis duration of 5.2±4 years were followed-up for an average period of 10±1 (range, 8-11) months, however 48 patients with high serum albumin and 24 patients with low serum albumin group completed the study. At baseline, the two groups were similar regarding hemoglobin (9.8±1.2 vs 9.16±1.6 gr/dl, P=0.95) levels. At endpoint, prevalence of anemia in high albumin group was significantly lower than the low albumin group (50% versus 83.3% P=0.005). Conclusion: The findings of this study indicate that low serum albumin in hemodialysis patients is a predictor of anemia indicating unresponsiveness to conventional treatment of anemia.

  12. Potential Contribution of Iron Deficiency and Multiple Factors to Anemia Among 6- to 72-Month-Old Children in the Kokang Area of Myanmar.

    PubMed

    Zhao, Ai; Gao, Hongchong; Li, Bo; Yu, Kai; Win, Naing Naing; Zhang, Yumei; Wang, Peiyu

    2015-10-01

    The prevalence of anemia among children in Myanmar has been reported to be among the highest in the world. This study was conducted to determine 1) the prevalence of anemia in preschool children and 2) risk factors associated with anemia. A total of 138 children aged from 6 to 72 months were recruited through cluster sampling from six villages in Kokang. Hemoglobin (Hb) concentration, blood trace elements, and anthropometric indicators were measured. Feces samples were collected to examine for the presence of ascarid eggs. The overall prevalence of anemia in children was 61.6%, including 10.9% with severe anemia. Meanwhile, high prevalence of stunting (40.0%), underweight (22.4%), wasting (6.3%), and small head circumference (6.7%) was found. Children with anemia were more prone to stunting. Children with severe anemia and moderate anemia had significantly lower blood iron and zinc levels than children without anemia (P < 0.001 and P = 0.007). The prevalence of ascarid infection was 64.9%; however, it was not associated with anemia. Drinking spring water was positively associated with anemia (odds ratio [OR] = 6.368). This study demonstrated that anemia is an important public health problem among children from the Kokang area. Iron deficiency and drinking spring water may be the important causes of anemia among children. PMID:26195457

  13. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.

    PubMed

    Iolascon, Achille; Esposito, Maria Rosaria; Russo, Roberta

    2012-12-01

    Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphological abnormalities that allowed for a morphological classification of these conditions mainly represented by congenital dyserythropoietic anemias types I and II. The identification of their causative genes provided evidence that these conditions have different molecular mechanisms that induce abnormal cell maturation and division. Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I. The gene involved in congenital dyserythropoietic anemia II, the most frequent form, is SEC23B. This condition seems to belong to a group of diseases attributable to defects in the transport of newly synthesized proteins from endoplasmic reticulum to the Golgi. This review will analyze recent insights in congenital dyserythropoietic anemias types I and II. It will also attempt to clarify the relationship between mutations in causative genes and the clinical phenotype of these conditions. PMID:23065504

  14. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

    PubMed Central

    Iolascon, Achille; Esposito, Maria Rosaria; Russo, Roberta

    2012-01-01

    Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphological abnormalities that allowed for a morphological classification of these conditions mainly represented by congenital dyserythropoietic anemias types I and II. The identification of their causative genes provided evidence that these conditions have different molecular mechanisms that induce abnormal cell maturation and division. Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I. The gene involved in congenital dyserythropoietic anemia II, the most frequent form, is SEC23B. This condition seems to belong to a group of diseases attributable to defects in the transport of newly synthesized proteins from endoplasmic reticulum to the Golgi. This review will analyze recent insights in congenital dyserythropoietic anemias types I and II. It will also attempt to clarify the relationship between mutations in causative genes and the clinical phenotype of these conditions. PMID:23065504

  15. Intestinal HIF2? promotes tissue-iron accumulation in disorders of iron overload with anemia.

    PubMed

    Anderson, Erik R; Taylor, Matthew; Xue, Xiang; Ramakrishnan, Sadeesh K; Martin, Angelical; Xie, Liwei; Bredell, Bryce X; Gardenghi, Sara; Rivella, Stefano; Shah, Yatrik M

    2013-12-10

    Several distinct congenital disorders can lead to tissue-iron overload with anemia. Repeated blood transfusions are one of the major causes of iron overload in several of these disorders, including ?-thalassemia major, which is characterized by a defective ?-globin gene. In this state, hyperabsorption of iron is also observed and can significantly contribute to iron overload. In ?-thalassemia intermedia, which does not require blood transfusion for survival, hyperabsorption of iron is the leading cause of iron overload. The mechanism of increased iron absorption in ?-thalassemia is unclear. We definitively demonstrate, using genetic mouse models, that intestinal hypoxia-inducible factor-2? (HIF2?) and divalent metal transporter-1 (DMT1) are activated early in the pathogenesis of ?-thalassemia and are essential for excess iron accumulation in mouse models of ?-thalassemia. Moreover, thalassemic mice with established iron overload had significant improvement in tissue-iron levels and anemia following disruption of intestinal HIF2?. In addition to repeated blood transfusions and increased iron absorption, chronic hemolysis is the major cause of tissue-iron accumulation in anemic iron-overload disorders caused by hemolytic anemia. Mechanistic studies in a hemolytic anemia mouse model demonstrated that loss of intestinal HIF2?/DMT1 signaling led to decreased tissue-iron accumulation in the liver without worsening the anemia. These data demonstrate that dysregulation of intestinal hypoxia and HIF2? signaling is critical for progressive iron overload in ?-thalassemia and may be a novel therapeutic target in several anemic iron-overload disorders. PMID:24282296

  16. Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres.

    PubMed

    Bär, Christian; Huber, Nicolas; Beier, Fabian; Blasco, Maria A

    2015-10-01

    Aplastic anemia is a rare but life-threatening disorder characterized by cytopenia in at least two of the three blood lineages. A frequent feature of patients with aplastic anemia is that they have shorter telomeres than those of age-matched controls. Testosterone has been used for over half a century in the treatment of aplastic anemia. However, although remissions are frequent following hormone therapy, the molecular mechanism underlying the response to treatment has remained unknown. Here we explored the possibility that the recently described regulation of telomerase activity by sex hormones may be the mechanism responsible. To this end, we used a mouse model of aplastic anemia induced by short telomeres in the bone marrow compartment. We found that testosterone therapy results in telomerase up-regulation, improved blood counts, and a significant extension of life-span of these mice. Importantly, longitudinal follow-up studies revealed longer telomeres in peripheral blood in mice subjected to hormone treatment. Our results demonstrate that testosterone-mediated telomerase activation can attenuate or reverse aplastic anemia disease progression associated with the presence of short telomeres. PMID:26206796

  17. Management of iron deficiency anemia in inflammatory bowel disease – a practical approach

    PubMed Central

    Stein, Jürgen; Dignass, Axel U.

    2013-01-01

    Although anemia is the most common systemic manifestation of inflammatory bowel disease (IBD), among the broad spectrum of extraintestinal disease complications encountered in IBD, including arthritis and osteopathy, it has generally received little consideration. However, not only in terms of frequency, but also with regard to its potential effect on hospitalization rates and on the quality of life and work, anemia is indeed a significant and costly complication of IBD. Anemia is multifactorial in nature, the most prevalent etiological forms being iron deficiency anemia (IDA) and anemia of chronic disease. In a condition associated with inflammation, such as IBD, the determination of iron status using common biochemical parameters alone is inadequate. A more accurate assessment may be attained using new iron indices including reticulocyte hemoglobin content, percentage of hypochromic red cells or zinc protoporphyrin. While oral iron supplementation has traditionally been a mainstay of IDA treatment, it has also been linked to extensive gastrointestinal side effects and possible disease exacerbation. However, many physicians are still reluctant to administer iron intravenously, despite the wide availability of a variety of new IV preparations with improved safety profiles, and despite the recommendations of international expert guidelines. This article discusses improved diagnostic and therapeutic strategies based on new clinical insights into the regulation of iron homeostasis. PMID:24714874

  18. The role of intravenous iron in the treatment of anemia in cancer patients

    PubMed Central

    2012-01-01

    Anemia is a major cause of morbidity in cancer patients resulting in poor physical performance, prognosis and therapy outcome. Initially, erythropoietin-stimulating agents (ESAs) were supposed to be the treatment of choice but about one third of patients turned out to be nonresponders and meta-analyses provided evidence of an increased risk of mortality if used excessively. This along with the successful use of intravenous iron for anemia in patients with chronic kidney disease prompted seven clinical studies evaluating the efficacy of intravenous iron as an adjunct to ESAs and four additional studies using intravenous iron only for anemia in cancer patients. These studies confirmed a superior response if ESAs are combined with intravenous iron and revealed iron only to be a useful option in patients with mild and absolute iron deficiency (AID). Currently, best treatment decisions for anemia in cancer might be based on measurements of serum ferritin (SF), transferrin saturation (TSAT), soluble transferrin receptor (sTfR), ferritin index (FI = sTfR/log SF), hypochromic reticulocytes (CHR) and C-reactive protein (CRP). However, there is still an urgent need for trials investigating diagnostic approaches to optimize therapy of anemia in cancer patients with iron and/or ESAs. PMID:23556124

  19. Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres

    PubMed Central

    Bär, Christian; Huber, Nicolas; Beier, Fabian; Blasco, Maria A.

    2015-01-01

    Aplastic anemia is a rare but life-threatening disorder characterized by cytopenia in at least two of the three blood lineages. A frequent feature of patients with aplastic anemia is that they have shorter telomeres than those of age-matched controls. Testosterone has been used for over half a century in the treatment of aplastic anemia. However, although remissions are frequent following hormone therapy, the molecular mechanism underlying the response to treatment has remained unknown. Here we explored the possibility that the recently described regulation of telomerase activity by sex hormones may be the mechanism responsible. To this end, we used a mouse model of aplastic anemia induced by short telomeres in the bone marrow compartment. We found that testosterone therapy results in telomerase up-regulation, improved blood counts, and a significant extension of life-span of these mice. Importantly, longitudinal follow-up studies revealed longer telomeres in peripheral blood in mice subjected to hormone treatment. Our results demonstrate that testosterone-mediated telomerase activation can attenuate or reverse aplastic anemia disease progression associated with the presence of short telomeres. PMID:26206796

  20. Anemia and Blood Transfusion in Patients with Isolated Traumatic Brain Injury

    PubMed Central

    Al-Dorzi, Hasan M.; Al-Humaid, Waleed; Tamim, Hani M.; Haddad, Samir; Aljabbary, Ahmad; Arifi, Abdulaziz; Arabi, Yaseen M.

    2015-01-01

    Rationale. By reducing cerebral oxygen delivery, anemia may aggravate traumatic brain injury (TBI) secondary insult. This study evaluated the impact of anemia and blood transfusion on TBI outcomes. Methods. This was a retrospective cohort study of adult patients with isolated TBI at a tertiary-care intensive care unit from 1/1/2000 to 31/12/2011. Daily hemoglobin level and packed red blood cell (PRBC) transfusion were recorded. Patients with hemoglobin < 10?g/dL during ICU stay (anemic group) were compared with other patients. Results. Anemia was present on admission in two (2%) patients and developed in 48% during the first week with hemoglobin < 7?g/dL occurring in 3.0%. Anemic patients had higher admission Injury Severity Score and underwent more craniotomy (50% versus 13%, p < 0.001). Forty percent of them received PRBC transfusion (2.8 ± 1.5 units per patient, median pretransfusion hemoglobin = 8.8?g/dL). Higher hospital mortality was associated with anemia (25% versus 6% for nonanemic patients, p = 0.01) and PRBC transfusion (38% versus 9% for nontransfused patients, p = 0.003). On multivariate analysis, only PRBC transfusion independently predicted hospital mortality (odds ratio: 6.8; 95% confidence interval: 1.1–42.3). Conclusions. Anemia occurred frequently after isolated TBI, but only PRBC transfusion independently predicted mortality. PMID:26605080

  1. [Aplastic anemia: Current state of diagnosis and treatment].

    PubMed

    Schrezenmeier, H; Körper, S; Höchsmann, B

    2015-09-01

    Aplastic anemia (AAI) is a rare life-threatening disorder which is characterized by bi- or tricytopenia and hypoplastic or aplastic bone marrow. AA can present as an acquired or congenital disorder. In recent years it was noted that a subgroup of patients with seemingly acquired AA with onset in adulthood carry mutations which cause or at least predispose to bone marrow failure, e.g. mutations in the genes of the telomerase complex. Options for first-line treatment are allogeneic stem cell transplantation or immunosuppression. The decision depends on severity of the disease, age and comorbidity of the patient and availability of a matched stem cell donor. Probability of survival after HLA-identical sibling transplantation exceeds 90% in young patients with bone marrow as the stem cell source and conditioning with an ATG-containing regimen. Results of matched unrelated donor transplantation have improved substantially over the last 10 years. Matched unrelated donor transplantation is increasingly considered as the first-line treatment for very young patients who are candidates for transplantation, but lack an HLA-identical sibling donor. The gold standard for immunosuppression is the combination of antithymocyte globulin (ATG) and cyclosporine A (CsA). ATG, a polyvalent antibody preparation, is obtained from animals after immunization with human thymocytes. Response rate and overall survival after horse ATG treatment are significantly higher compared to rabbit ATG. Recent trials reported a surprisingly high rate of bi- and trilinear response to treatment with the thrombopoietin receptor agonist eltrombopag in patients refractory to immunosuppression. Ongoing trials now address the potential role of eltrombopag as an adjunct to immunosuppression in first-line treatment. PMID:26216866

  2. Structure of the FANCI-FANCD2 Complex: Insights into the Fanconi Anemia DNA Repair Pathway

    SciTech Connect

    W Joo; G Xu; n Persky; A Smogorzewska; D Rudge; O Buzovetsky; S Elledge; N Pavletich

    2011-12-31

    Fanconi anemia is a cancer predisposition syndrome caused by defects in the repair of DNA interstrand cross-links (ICLs). Central to this pathway is the Fanconi anemia I-Fanconi anemia D2 (FANCI-FANCD2) (ID) complex, which is activated by DNA damage-induced phosphorylation and monoubiquitination. The 3.4 angstrom crystal structure of the {approx}300 kilodalton ID complex reveals that monoubiquitination and regulatory phosphorylation sites map to the I-D interface, suggesting that they occur on monomeric proteins or an opened-up complex and that they may serve to stabilize I-D heterodimerization. The 7.8 angstrom electron-density map of FANCI-DNA crystals and in vitro data show that each protein has binding sites for both single- and double-stranded DNA, suggesting that the ID complex recognizes DNA structures that result from the encounter of replication forks with an ICL.

  3. A Peutz-Jeghers syndrome case with iron deficiency anemia and jejuno-jejunal invagination.

    PubMed

    Sökmen, Haci Mehmet; Ince, Ali Tüzün; Bölükba?, Cengiz; Kiliç, Güray; Dalay, Remzi; Kurda?, Oya Ovünç

    2003-03-01

    Peutz-Jeghers syndrome is an autosomal dominantly inherited rare syndrome characterized by mucocutaneous pigmentations, with intestinal and extraintestinal polyps. It is accepted to be a precancerous syndrome. The polyps can cause anemia and intestinal obstruction and intussuception. We present a young patient admitted to our clinic with a history of recent gastrointestinal bleeding. Upper and lower gastrointestinal endoscopic examinations revealed multiple polyps located in the stomach, jejunum, rectum and terminal ileum. In addition, there were many mucocutaneous pigmentations on the lips, buccal mucosa and finger and toe nails. Jejunal polyps were found to be the cause of jejuno-jejunal invagination and iron deficiency anemia. Histopathological evaluation of the polyps revealed hamartomatous polyps of Peutz-Jeghers syndrome and this diagnosis was supported by a dermatology specialist. It is suggested that any patient presenting with ileus attacks and findings of anemia should be investigated for polyps and mucocutaneous pigmentations of the precancerous Peutz-Jeghers syndrome. PMID:14593545

  4. Structure of the FANCI-FANCD2 Complex: Insights into the Fanconi Anemia DNA Repair Pathway

    SciTech Connect

    Joo, Woo; Xu, Guozhou; Persky, Nicole S.; Smogorzewska, Agata; Rudge, Derek G.; Buzovetsky, Olga; Elledge, Stephen J.; Pavletich, Nikola P.

    2011-08-29

    Fanconi anemia is a cancer predisposition syndrome caused by defects in the repair of DNA interstrand cross-links (ICLs). Central to this pathway is the Fanconi anemia I-Fanconi anemia D2 (FANCI-FANCD2) (ID) complex, which is activated by DNA damage-induced phosphorylation and monoubiquitination. The 3.4 angstrom crystal structure of the {approx}300 kilodalton ID complex reveals that monoubiquitination and regulatory phosphorylation sites map to the I-D interface, suggesting that they occur on monomeric proteins or an opened-up complex and that they may serve to stabilize I-D heterodimerization. The 7.8 angstrom electron-density map of FANCI-DNA crystals and in vitro data show that each protein has binding sites for both single- and double-stranded DNA, suggesting that the ID complex recognizes DNA structures that result from the encounter of replication forks with an ICL.

  5. Potential Immune Mechanisms Associated with Anemia in Plasmodium vivax Malaria: a Puzzling Question

    PubMed Central

    Castro-Gomes, Thiago; Mourão, Luiza C.; Melo, Gisely C.; Monteiro, Wuelton M.

    2014-01-01

    The pathogenesis of malaria is complex, generating a broad spectrum of clinical manifestations. One of the major complications and concerns in malaria is anemia, which is responsible for considerable morbidity in the developing world, especially in children and pregnant women. Despite its enormous health importance, the immunological mechanisms involved in malaria-induced anemia remain incompletely understood. Plasmodium vivax, one of the causative agents of human malaria, is known to induce a strong inflammatory response with a robust production of immune effectors, including cytokines and antibodies. Therefore, it is possible that the extent of the immune response not only may facilitate the parasite killing but also may provoke severe illness, including anemia. In this review, we consider potential immune effectors and their possible involvement in generating this clinical outcome during P. vivax infections. PMID:25092911

  6. Hereditary spherocytic anemia with deletion of the short arm of chromosome 8

    SciTech Connect

    Okamoto, Nobuhiko; Wada, Yoshinao; Nakamura, Yoich

    1995-09-11

    We describe a 30-month-old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XYdel(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p- have been reported. In these patients, severe mental retardation and multiple anomalies are common findings. This is a new contiguous gene syndrome. Lux established that ankyrin deficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manifestations of this syndrome. Patients with spherocytic anemia and multiple congenital anomalies should be investigated by high-resolution chromosomal means to differentiate this syndrome. 14 refs., 3 figs., 2 tabs.

  7. Multiple myeloma in a patient with sickel cell anemia. Interacting effects on blood viscosity.

    PubMed

    Anderson, I S; Yeung, K Y; Hillman, D; Lessin, L S

    1975-10-01

    Described here is a case of multiple myeloma in a patient with sickle cell anemia. Viscometric studies were made by comparing the patient's whole blood, plasma and washed red blood cells with those of a normal control subject and a patient with sickle cell anemia. Results showed that the increased viscosity of the patient's whole blood as compared with that of the control patient with sickle cell anemia was mainly due to erythrocytic interaction with the circulating abnormal immunoglobulin. It is postulated that the increased frequency of vaso-occlusive crisis that occurred in our patient in the months before the diagnosis and treatment of multiple myeloma, was due to this cell-protein interaction with the resulting enhancement of whole blood viscosity and the sickling phenomena. PMID:810022

  8. An unusual case of iron deficiency anemia is associated with extremely low level of transferrin receptor

    PubMed Central

    Hao, Shuangying; Li, Huihui; Sun, Xiaoyan; Li, Juan; Li, Kuanyu

    2015-01-01

    A case study of a female patient, diagnosed with iron deficiency anemia, was unresponsive to oral iron treatment and only partially responsive to parenteral iron therapy, a clinical profile resembling the iron-refractory iron deficiency anemia (IRIDA) disorder. However, the patient failed to exhibit microcytic phenotype, one of the IRIDA hallmarks. Biochemical assays revealed that serum iron, hepcidin, interluekin 6, and transferrin saturation were within the normal range of references or were comparable to her non-anemic offspring. Iron contents in serum and red blood cells and hemoglobin levels were measured, which confirmed the partial improvement of anemia after parenteral iron therapy. Strikingly, serum transferrin receptor in patient was almost undetectable, reflecting the very low activity of bone-marrow erythropoiesis. Our data demonstrate that this is not a case of systemic iron deficiency, but rather cellular iron deficit due to the low level of transferrin receptor, particularly in erythroid tissue. PMID:26339443

  9. Chronic and acute anemia and extracranial internal carotid stenosis are risk factors for silent cerebral infarcts in sickle cell anemia.

    PubMed

    Bernaudin, Françoise; Verlhac, Suzanne; Arnaud, Cécile; Kamdem, Annie; Vasile, Manuela; Kasbi, Florence; Hau, Isabelle; Madhi, Fouad; Fourmaux, Christine; Biscardi, Sandra; Epaud, Ralph; Pondarré, Corinne

    2015-03-01

    Early transcranial Doppler (TCD) screening of the Créteil sickle cell anemia (SCA)-newborn cohort, and rapid initiation of transfusion programs, resulted in successful prevention of overt strokes, but a high cumulative risk of silent cerebral infarcts (SCI) remained, suggesting that TCD screening does not identify all patients with SCA at risk for SCI. We hypothesized that episodes of hypoperfusion/hypoxia, as observed during acute chest syndromes or acute anemic events (AAE), and extracranial internal carotid artery (eICA) stenoses, detectable via submandibular Doppler sonography and cervical magnetic resonance angiography (MRA), could also be risk factors for SCI. This study includes 189 stroke-free patients with SCA from the Créteil newborn cohort (1992-2010) followed longitudinally by magnetic resonance imaging/MRA, including cervical MRA at the last assessment. All patients with abnormal TCD and/or intracranial stenoses were placed on a transfusion program. Mean follow-up was 9.9 years (range, 2.2-19.9 years; 1844 patient-years). Annual rates of clinical events were calculated. The cumulative risk for SCI was 39.1% (95% confidence interval [CI], 23.5%-54.7%) by age 18 years, with no plateau. We confirm that baseline hemoglobin level lower than 7 g/dL before age 3 years is a highly significant predictive risk factor for SCI (hazard ratio, 2.97; 95% CI, 1.43-6.17; P = .004). Furthermore, we show that AAE rate (odds ratio, 2.64 per unit increase; 95% CI, 1.09-6.38; P = .031) and isolated eICA stenosis (odds ratio, 3.19; 95% CI, 1.18-8.70; P = .023) are significant and independent risk factors for SCI. PMID:25533032

  10. Prevalence of Malaria and Anemia among Pregnant Women Attending a Traditional Birth Home in Benin City, Nigeria

    PubMed Central

    Oladeinde, Bankole Henry; Omoregie, Richard; Odia, Ikponmwosa; Oladeinde, Oladapo Babatunde

    2012-01-01

    Objectives To determine the prevalence of malaria and anemia among pregnant women attending a traditional birth center as well as the effect of herbal remedies, gravidity, age, educational background and malaria prevention methods on their prevalence. Methods Blood specimens were collected from 119 pregnant women attending a Traditional Birth Home in Benin City, Nigeria. Malaria parasitemia was diagnosed by microscopy while anemia was defined as hemoglobin concentration <11 g/dL. Results The prevalence of malaria infection was (OR=4.35 95% CI=1.213, 15.600; p=0.016) higher among primigravidae (92.1%). Pregnant women (38.5%) with tertiary level of education had significantly lower prevalence of malaria infection (p=0.002). Malaria significantly affected the prevalence of anemia (p<0.05). Anemia was associated with consumption of herbal remedies (OR=2.973; 95% CI=1.206, 7.330; p=0.017). The prevalence of malaria parasitemia and anemia were not affected by malaria prevention methods used by the participants. Conclusion The overall prevalence of malaria infection and anemia observed in this study were 78.9% and 46.2%, respectively. Higher prevalence of malaria infection was associated with primigravidae and lower prevalence with tertiary education of subjects. Anemia was associated with consumption of herbal remedies. There is urgent need to control the prevalence of malaria and anemia among pregnant women attending traditional birth homes. PMID:22811774

  11. A clinical study of Punarnava Mandura in the management of Pandu Roga in old age (geriatric anemia)

    PubMed Central

    Pandya, Megha G.; Dave, Alankruta R.

    2014-01-01

    Background: The incidence of anemia rises with age. The consequences of anemia are many and serious, affecting not only individual's health, but also the development of societies and countries. Pandu Roga can be effectively compared with anemia on the ground of its similar signs and symptoms. Aim: To evaluate the Panduhara and Rasayana effect of Punarnava Mandura in the management of Pandu Roga in old age (geriatric anemia). Materials and Methods: The study was conducted in 50 clinically diagnosed patients of geriatric anemia. Patients were treated with Punarnava Mandura 2 tablets (250 mg each) twice in a day after lunch and dinner with Takra (butter milk) for 90 days. Among 50 registered patients, 40 patients had completed the treatment and 10 patients discontinued the treatment. Results were analyzed using Wilcoxon signed-rank test for subjective parameters and for assessment of objective parameters paired t-test was adopted. Results: At the end of study, drug has shown beneficial effect in patients of anemia by providing highly significant result in chief complaints, associated symptoms, Kshaya of Dhatu and Agni Bala, Deha Bala and Sattwa Bala. It has also improved quality-of-life (QOL) of the patients. Moderate and mild improvement was observed in 30 and 70% of the patients respectively. Conclusion: Punarnava Mandura may work as Rasayana in geriatric anemia by providing highly significant results on clinical features of Pandu Roga, Dehabala, Agni Bala and Sattwa Bala and by improving QOL. of patients of geriatric anemia.

  12. Food-for-work programs in Indonesia had a limited effect on anemia.

    PubMed

    Moench-Pfanner, Regina; de Pee, Saskia; Bloem, Martin W; Foote, Dorothy; Kosen, Soewarta; Webb, Patrick

    2005-06-01

    Indonesia's economic crisis of late 1990s lowered consumption of micronutrient-rich foods, which increased the prevalence of micronutrient deficiencies, including anemia. As a postcrisis response, 5 nongovernmental organizations (NGOs) implemented Food for Work (FFW) programs to protect food consumption levels and nutritional status by providing rice, sometimes combined with oil and/or pinto beans. An independent evaluation assessed the effect of the FFW programs on nutrition outcomes, particularly anemia. A quasi-experimental design was used in which 1500 beneficiary and 1500 control households were randomly selected and followed in each of 3 urban and 2 rural sites. Baseline data were collected before program implementation and subsequently at approximately 6-mo intervals for 2.5 y. The poor were found to be appropriately targeted, and program participation ranged from 4 to 18 mo. The proportion of households with debts ranged from 32 to 70%; although it was higher among beneficiaries than controls, it increased among controls, but not beneficiaries. However, only among urban poor mothers in Surabaya were the odds of anemia at endline lower when participating in the FFW program (0.60, 95%CI [0.40-0.89]). Other risk factors for anemia in mothers and children included nutritional status (anemia at baseline, low BMI, receipt of vitamin A capsule, child age) and socioeconomic status (maternal education, having official residency in the area, income level). Thus, postcrisis FFW programs had limited effect on anemia, the main identified nutritional problem. Closer attention is required to the potential for affecting nutritional outcomes through FFW, including food aid quality and quantity and complementary nonfood interventions. Micronutrient deficiencies should be addressed directly via supplements and fortified foods. PMID:15930447

  13. Pentoxifylline for Anemia in Chronic Kidney Disease: A Systematic Review and Meta-Analysis

    PubMed Central

    Bolignano, Davide; D’Arrigo, Graziella; Pisano, Anna; Coppolino, Giuseppe

    2015-01-01

    Background Pentoxifylline (PTX) is a promising therapeutic approach for reducing inflammation and improving anemia associated to various systemic disorders. However, whether this agent may be helpful for anemia management also in CKD patients is still object of debate. Study Design Systematic review and meta-analysis. Population Adults with CKD (any KDOQI stage, including ESKD patients on regular dialysis) and anemia (Hb<13 g/dL in men or < 12 g/dL in women). Search Strategy and Sources Cochrane CENTRAL, EMBASE, Ovid-MEDLINE and PubMed were searched for studies providing data on the effects of PTX on anemia parameters in CKD patients without design or follow-up restriction. Intervention PTX derivatives at any dose regimen. Outcomes Hemoglobin, hematocrit, ESAs dosage and resistance (ERI), iron indexes (ferritin, serum iron, TIBC, transferrin and serum hepcidin) and adverse events. Results We retrieved 11 studies (377 patients) including seven randomized controlled trials (all comparing PTX to placebo or standard therapy) one retrospective case-control study and three prospective uncontrolled studies. Overall, PTX increased hemoglobin in three uncontrolled studies but such improvement was not confirmed in a meta-analysis of seven studies (299 patients) (MD 0.12 g/dL, 95% CI -0.22 to 0.47). Similarly, there were no conclusive effects of PTX on hematocrit, ESAs dose, ferritin and TSAT in pooled analyses. Data on serum iron, ERI, TIBC and hepcidin were based on single studies. No evidence of increased rate of adverse events was also noticed. Limitations Small sample size and limited number of studies. High heterogeneity among studies with respect to CKD and anemia severity, duration of intervention and responsiveness/current therapy with iron or ESAs. Conclusions There is currently no conclusive evidence supporting the utility of pentoxifylline for improving anemia control in CKD patients. Future trials designed on hard, patient-centered outcomes with larger sample size and longer follow-up are advocated. PMID:26237421

  14. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia

    PubMed Central

    Konno, Yuki; Toki, Tsutomu; Tandai, Satoru; Xu, Gang; Wang, RuNan; Terui, Kiminori; Ohga, Shouichi; Hara, Toshiro; Hama, Asahito; Kojima, Seiji; Hasegawa, Daiichiro; Kosaka, Yoshiyuki; Yanagisawa, Ryu; Koike, Kenichi; Kanai, Rie; Imai, Tsuyoshi; Hongo, Teruaki; Park, Myoung-Ja; Sugita, Kanji; Ito, Etsuro

    2010-01-01

    Background Diamond-Blackfan anemia is a rare, clinically heterogeneous, congenital red cell aplasia: 40% of patients have congenital abnormalities. Recent studies have shown that in western countries, the disease is associated with heterozygous mutations in the ribosomal protein (RP) genes in about 50% of patients. There have been no studies to determine the incidence of these mutations in Asian patients with Diamond-Blackfan anemia. Design and Methods We screened 49 Japanese patients with Diamond-Blackfan anemia (45 probands) for mutations in the six known genes associated with Diamond-Blackfan anemia: RPS19, RPS24, RPS17, RPL5, RPL11, and RPL35A. RPS14 was also examined due to its implied involvement in 5q- syndrome. Results Mutations in RPS19, RPL5, RPL11 and RPS17 were identified in five, four, two and one of the probands, respectively. In total, 12 (27%) of the Japanese Diamond-Blackfan anemia patients had mutations in ribosomal protein genes. No mutations were detected in RPS14, RPS24 or RPL35A. All patients with RPS19 and RPL5 mutations had physical abnormalities. Remarkably, cleft palate was seen in two patients with RPL5 mutations, and thumb anomalies were seen in six patients with an RPS19 or RPL5 mutation. In contrast, a small-for-date phenotype was seen in five patients without an RPL5 mutation. Conclusions We observed a slightly lower frequency of mutations in the ribosomal protein genes in patients with Diamond-Blackfan anemia compared to the frequency reported in western countries. Genotype-phenotype data suggest an association between anomalies and RPS19 mutations, and a negative association between small-for-date phenotype and RPL5 mutations. PMID:20378560

  15. Parent education and biologic factors influence on cognition in sickle cell anemia.

    PubMed

    King, Allison A; Strouse, John J; Rodeghier, Mark J; Compas, Bruce E; Casella, James F; McKinstry, Robert C; Noetzel, Michael J; Quinn, Charles T; Ichord, Rebecca; Dowling, Michael M; Miller, J Philip; Debaun, Michael R

    2014-02-01

    Children with sickle cell anemia have a high prevalence of silent cerebral infarcts (SCIs) that are associated with decreased full-scale intelligence quotient (FSIQ). While the educational attainment of parents is a known strong predictor of the cognitive development of children in general, the role of parental education in sickle cell anemia along with other factors that adversely affect cognitive function (anemia, cerebral infarcts) is not known. We tested the hypothesis that both the presence of SCI and parental education would impact FSIQ in children with sickle cell anemia. A multicenter, cross-sectional study was conducted in 19 US sites of the Silent Infarct Transfusion Trial among children with sickle cell anemia, age 5-15 years. All were screened for SCIs. Participants with and without SCI were administered the Wechsler Abbreviated Scale of Intelligence. A total of 150 participants (107 with and 43 without SCIs) were included in the analysis. In a multivariable linear regression model for FSIQ, the absence of college education for the head of household was associated with a decrease of 6.2 points (P = 0.005); presence of SCI with a 5.2 point decrease (P = 0.017); each $1000 of family income per capita with a 0.33 point increase (P = 0.023); each increase of 1 year in age with a 0.96 point decrease (P = 0.023); and each 1% (absolute) decrease in hemoglobin oxygen saturation with 0.75 point decrease (P = 0.030). In conclusion, FSIQ in children with sickle cell anemia is best accounted for by a multivariate model that includes both biologic and socioenvironmental factors. PMID:24123128

  16. Role of Anemia in Home Oxygen Therapy in Chronic Obstructive Pulmonary Disease Patients.

    PubMed

    Copur, Ahmet Sinan; Fulambarker, Ashok; Molnar, Janos; Nadeem, Rashid; McCormack, Charles; Ganesh, Aarthi; Kheir, Fayez; Hamon, Sara

    2015-01-01

    Anemia is a known comorbidity found in chronic obstructive pulmonary disease (COPD) patients. Hypoxemia is common and basically due to ventilation/perfusion (V/Q) mismatch in COPD. Anemia, by decreasing arterial oxygen content, may be a contributing factor for decreased delivery of oxygen to tissues. The objective of this study is to determine if anemia is a factor in qualifying COPD patients for home oxygen therapy. The study was designed as a retrospective, cross-sectional, observational chart review. Patients who were referred for home oxygen therapy evaluation were selected from the computerized patient record system. Demographic data, oxygen saturation at rest and during exercise, pulmonary function test results, hemoglobin level, medications, reason for anemia, comorbid diseases, and smoking status were recorded. The ? tests, independent sample t tests, and logistic regression were used for statistical analysis. Only 356 of total 478 patient referrals had a diagnosis of COPD over a 2-year period. Although 39 of them were excluded, 317 patients were included in the study. The overall rate of anemia was 38% in all COPD patients. Anemia was found significantly more frequent in COPD patients on home oxygen therapy (46%) than those not on home oxygen therapy (18.5%) (P < 0.0001). Mean saturation of peripheral oxygen values were significantly lower in anemic COPD patients both at rest and during exercise (P < 0.0001). Also, in COPD patients, age, Global Initiative for Chronic Obstructive Lung Disease class, smoking status, hemoglobin level, hematocrit, percent of forced expiratory volume in first second, forced expiratory volume in first second/forced vital capacity, residual volume/total lung volume, percent of carbon monoxide diffusion capacity were significantly different between home oxygen therapy and those not on home oxygen therapy (P < 0.05). Multivariate logistic regression showed that anemia remained a strong predictor for long-term oxygen therapy use in COPD patients after adjusting for other significant parameters. Anemic COPD patients are more hypoxic especially during exercise than those who are not anemic. We conclude that anemia is a contributing factor in qualifying COPD patients for home oxygen therapy. PMID:23567789

  17. The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder.

    PubMed

    Walden, Helen; Deans, Andrew J

    2014-01-01

    Mutations in any of at least sixteen FANC genes (FANCA-Q) cause Fanconi anemia, a disorder characterized by sensitivity to DNA interstrand crosslinking agents. The clinical features of cytopenia, developmental defects, and tumor predisposition are similar in each group, suggesting that the gene products participate in a common pathway. The Fanconi anemia DNA repair pathway consists of an anchor complex that recognizes damage caused by interstrand crosslinks, a multisubunit ubiquitin ligase that monoubiquitinates two substrates, and several downstream repair proteins including nucleases and homologous recombination enzymes. We review progress in the use of structural and biochemical approaches to understanding how each FANC protein functions in this pathway. PMID:24773018

  18. A prototypical Fanconi anemia pathway in lower eukaryotes?

    PubMed Central

    McHugh, Peter J.; Ward, Thomas A.; Chovanec, Miroslav

    2012-01-01

    DNA interstrand cross-links (ICLs) present a major challenge to cells, preventing separation of the two strands of duplex DNA and blocking major chromosome transactions, including transcription and replication. Due to the complexity of removing this form of DNA damage, no single DNA repair pathway has been shown to be capable of eradicating ICLs. In eukaryotes, ICL repair is a complex process, principally because several repair pathways compete for ICL repair intermediates in a strictly cell cycle-dependent manner. Yeast cells require a combination of nucleotide excision repair, homologous recombination repair and postreplication repair/translesion DNA synthesis to remove ICLs. There are also a number of additional ICL repair factors originally identified in the budding yeast Saccharomyces cerevisiae, called Pso1 though 10, of which Pso2 has an apparently dedicated role in ICL repair. Mammalian cells respond to ICLs by a complex network guided by factors mutated in the inherited cancer-prone disorder Fanconi anemia (FA). Although enormous progress has been made over recent years in identifying and characterizing FA factors as well as in elucidating certain aspects of the biology of FA, the mechanistic details of the ICL repair defects in FA patients remain unknown. Dissection of the FA DNA damage response pathway has, in part, been limited by the absence of FA-like pathways in highly tractable model organisms, such as yeast. Although S. cerevisiae possesses putative homologs of the FA factors FANCM, FANCJ and FANCP (Mph1, Chl1 and Slx4, respectively) as well as of the FANCM-associated proteins MHF1 and MHF2 (Mhf1 and Mhf2), the corresponding mutants display no significant increase in sensitivity to ICLs. Nevertheless, we and others have recently shown that these FA homologs, along with several other factors, control an ICL repair pathway, which has an overlapping or redundant role with a Pso2-controlled pathway. This pathway acts in S-phase and serves to prevent ICL-stalled replication forks from collapsing into DNA double-strand breaks. PMID:22895051

  19. Primary Sjögren syndrome presenting with hemolytic anemia and pure red cell aplasia following delivery due to Coombs-negative autoimmune hemolytic anemia and hemophagocytosis.

    PubMed

    Komaru, Yohei; Higuchi, Takakazu; Koyamada, Ryosuke; Haji, Youichiro; Okada, Masato; Kamesaki, Toyomi; Okada, Sadamu

    2013-01-01

    A 36-year-old woman presented with hemolytic anemia without a reticulocyte response 38 days after delivery. A marked reduction in erythroid cells and an increase in macrophages with active hemophagocytosis were noted in the bone marrow. While conventional Coombs' tests were negative, the level of red blood cell (RBC)-bound immunoglobulin G (IgG) was increased. The patient was diagnosed with primary Sjögren syndrome (pSS) based on her symptoms, positive anti-SS-A antibodies, Coombs-negative autoimmune hemolytic anemia and pure red cell aplasia associated with RBC-bound IgG and hemophagocytosis. The unique presentation was considered to be a consequence of immunological derangement associated with pSS, pregnancy and delivery. PMID:24126397

  20. Differential HIF and NOS responses to acute anemia: defining organ-specific hemoglobin thresholds for tissue hypoxia.

    PubMed

    Tsui, Albert K Y; Marsden, Philip A; Mazer, C David; Sled, John G; Lee, Keith M; Henkelman, R Mark; Cahill, Lindsay S; Zhou, Yu-Qing; Chan, Neville; Liu, Elaine; Hare, Gregory M T

    2014-07-01

    Tissue hypoxia likely contributes to anemia-induced organ injury and mortality. Severe anemia activates hypoxia-inducible factor (HIF) signaling by hypoxic- and neuronal nitric oxide (NO) synthase- (nNOS) dependent mechanisms. However, organ-specific hemoglobin (Hb) thresholds for increased HIF expression have not been defined. To assess organ-specific Hb thresholds for tissue hypoxia, HIF-? (oxygen-dependent degradation domain, ODD) luciferase mice were hemodiluted to mild, moderate, or severe anemia corresponding to Hb levels of 90, 70, and 50 g/l, respectively. HIF luciferase reporter activity, HIF protein, and HIF-dependent RNA levels were assessed. In the brain, HIF-1? was paradoxically decreased at mild anemia, returned to baseline at moderate anemia, and then increased at severe anemia. Brain HIF-2? remained unchanged at all Hb levels. Both kidney HIF-1? and HIF-2? increased earlier (Hb ?70-90 g/l) in response to anemia. Liver also exhibited an early HIF-? response. Carotid blood flow was increased early (Hb ?70, g/l), but renal blood flow remained relatively constant, only increased at Hb of 50 g/l. Anemia increased nNOS (brain and kidney) and endothelia NOS (eNOS) (kidney) levels. Whereas anemia-induced increases in brain HIF? were nNOS-dependent, our current data demonstrate that increased renal HIF? was nNOS independent. HIF-dependent RNA levels increased linearly (?10-fold) in the brain. However, renal HIF-RNA responses (MCT4, EPO) increased exponentially (?100-fold). Plasma EPO levels increased near Hb threshold of 90 g/l, suggesting that the EPO response is sensitive. Collectively, these observations suggest that each organ expresses a different threshold for cellular HIF/NOS hypoxia responses. This knowledge may help define the mechanism(s) by which the brain and kidney maintain oxygen homeostasis during anemia. PMID:24760996

  1. Increased susceptibility to infectious salmon anemia virus (ISAv) in Lepeophtheirus salmonis – infected Atlantic salmon

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The salmon louse and infectious salmon anemia virus (ISAv) are the two most significant pathogens of concern to the Atlantic salmon (Salmo salar) aquaculture industry. However, the interactions between sea lice and ISAv, as well as the impact of a prior sea lice infection on the susceptibility of th...

  2. Association between Anemia and Aflatoxin B1 Biomarker Levels among Pregnant Women in Kumasi, Ghana

    PubMed Central

    Shuaib, Faisal M. B.; Jolly, Pauline E.; Ehiri, John E.; Jiang, Yi; Ellis, William O.; Stiles, Jonathan K.; Yatich, Nelly J.; Funkhouser, Ellen; Person, Sharina D.; Wilson, Craig; Williams, Jonathan H.

    2010-01-01

    Aflatoxins are fungal metabolites that contaminate staple food crops in many developing countries. Up to 40% of women attending a prenatal clinic in Africa may be anemic. In a cross-sectional study of 755 pregnant women, Aflatoxin B1-lysine adducts (AF-ALB) levels were determined by high-performance liquid chromatography. Participants were divided into quartiles “low,” “moderate,” “high,” and “very high.” Anemia was defined as hemoglobin levels < 11 g/dL. Logistic regression was used to examine the association of anemia with AF-ALB. The mean AF-ALB level was 10.9 pg/mg (range = 0.44–268.73 pg/mg); 30.3% of participants were anemic. The odds of being anemic increased 21% (odds ratio [OR], 1.21, P = 0.01) with each quartile of AF-ALB reaching an 85% increased odds in the “very high” compared with the “low” category (OR, 1.85; confidence interval [CI], 1.16–2.95). This association was stronger among women with malaria and findings were robust when women with evidence of iron deficiency anemia were excluded. This study found a strong, consistent association between anemia in pregnancy and aflatoxins. PMID:21036841

  3. Iron-Fortified Drinking Water Studies for the Prevention of Children's Anemia in Developing Countries.

    PubMed

    Dutra-de-Oliveira, Jose E; Marchini, J Sergio; Lamounier, Joel; Almeida, Carlos A N

    2011-01-01

    Anemia and iron deficiency should receive special attention considering their high prevalence and serious consequences. For prevention, globally it is recommended to increase dietary iron intake, iron fortification of industrialized foods, and medical iron supplementation. Food fortification for the prevention of iron deficiency in developing countries should consider carriers locally available and consumed daily, requiring limited infrastructure and technology. Drinking water is the iron carrier we have been working for years for the prevention of iron deficiency and anemia in small children in Brazil. It was shown that studies with iron-fortified drinking water were proved to be effective on children's anemia prevention. Water is found everywhere, consumed daily by everyone may be easily fortified with simple technology, is low priced and was effective on the prevention of children's anemia. Fortification of drinking water with iron was locally implemented with the direct participation of the government and community. Government authorities, health personnel and population were part of the project and responsible for its community implementation. The mayor/municipality permitted and supported the proposal to supply it to children at their day-care centers. To keep the children drinking water iron fortified supply an officially authorized legislation was also approved. PMID:21826263

  4. The effects of Spirulina on anemia and immune function in senior citizens.

    PubMed

    Selmi, Carlo; Leung, Patrick S C; Fischer, Laura; German, Bruce; Yang, Chen-Yen; Kenny, Thomas P; Cysewski, Gerry R; Gershwin, M Eric

    2011-05-01

    Anemia and immunological dysfunction (i.e. immunosenescence) are commonly found in older subjects and nutritional approaches are sought to counteract these phenomena. Spirulina is a filamentous and multicellular bule-green alga capable of reducing inflammation and also manifesting antioxidant effects. We hypothesized that Spirulina may ameliorate anemia and immunosenescence in senior citizens with a history of anemia. We enrolled 40 volunteers of both sexes with an age of 50 years or older who had no history of major chronic diseases. Participants took a Spirulina supplementation for 12 weeks and were administered comprehensive dietary questionnaires to determine their nutritional regimen during the study. Complete cell count (CCC) and indoleamine 2,3-dioxygenase (IDO) enzyme activity, as a sign of immune function, were determined at baseline and weeks 6 and 12 of supplementation. Thirty study participants completed the entire study and the data obtained were analyzed. Over the 12-week study period, there was a steady increase in average values of mean corpuscular hemoglobin in subjects of both sexes. In addition, mean corpuscular volume and mean corpuscular hemoglobin concentration also increased in male participants. Older women appeared to benefit more rapidly from Spirulina supplements. Similarly, the majority of subjects manifested increased IDO activity and white blood cell count at 6 and 12 weeks of Spirulina supplementation. Spirulina may ameliorate anemia and immunosenescence in older subjects. We encourage large human studies to determine whether this safe supplement could prove beneficial in randomized clinical trials. PMID:21278762

  5. Mean Platelet Volume can Predict Cerebrovascular Events in Patients with Sickle Cell Anemia

    PubMed Central

    Celik, Tanju; Unal, Sule; Ekinci, Ozalp; Ozer, Cahit; Ilhan, Gul; Oktay, Gonul; Arica, Vefik

    2015-01-01

    Objective: The purpose of this study was to determine the impact of mean platelet volume (MPV) on the frequency and severity of vaso-occlusive and cerebrovascular events in patients with sickle cell anemia (SCA). Methods: The 238 cases diagnosed with SCA were evaluated retrospectively with respect to the occurrence of painful crisis for the previous year. The incidence, severity and type of the vaso-occlusive crises of the patients with SCA between March 2010 and March 2011 were recorded. The last MPV values in patients who were free of erythrocyte transfusion for the last three months and who had no current vaso-occlusive crises were evaluated. All the patients were grouped according to the frequency of the crises for the previous year preceding the data collection. Group 1: 1 to 3 crises, Group 2: 4 to 5 and Group 3: 6 or more crises annually. Results: In accordance with the results obtained during the evaluation of the cases diagnosed with sickle-cell anemia, MPV value was found to be significantly higher in patients with cerebrovascular events. Also MPV values increased with increasing incidence of the crises (r=0.297) (p=0.001). Conclusion: One of the contributing factors for this clinical heterogeneity may be related to the MPV values in patients with sickle cell anemia. The higher MPV values may be an early predictor of future cerebrovascular events in patients with sickle cell anemia and may require close follow-up and additional measures. PMID:25878644

  6. Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

    PubMed Central

    Rafi, Syed K.; Olm-Shipman, Adam J.; Wilson, Nathan R.; Abhyankar, Sunil; Ganter, Brigitte; Furness, L. Mike; Fang, Jianwen; Calado, Rodrigo T.

    2013-01-01

    We recently identified 2 siblings afflicted with idiopathic, autosomal recessive aplastic anemia. Whole-exome sequencing identified a novel homozygous missense mutation in thrombopoietin (THPO, c.112C>T) in both affected siblings. This mutation encodes an arginine to cysteine substitution at residue 38 or residue 17 excluding the 21-amino acid signal peptide of THPO receptor binding domain (RBD). THPO has 4 conserved cysteines in its RBD that form 2 disulfide bonds. Our in silico modeling predicts that introduction of a fifth cysteine may disrupt normal disulfide bonding to cause poor receptor binding. In functional assays, the mutant-THPO–containing media shows two- to threefold reduced ability to sustain UT7-TPO cells, which require THPO for proliferation. Both parents and a sibling with heterozygous R17C change have reduced platelet counts, whereas a sibling with wild-type sequence has normal platelet count. Thus, the R17C partial loss-of-function allele results in aplastic anemia in the homozygous state and mild thrombocytopenia in the heterozygous state in our family. Together with the recent identification of THPO receptor (MPL) mutations and the effects of THPO agonists in aplastic anemia, our results have clinical implications in the diagnosis and treatment of patients with aplastic anemia and highlight a role for the THPO-MPL pathway in hematopoiesis in vivo. PMID:24085763

  7. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

    PubMed Central

    Sankaran, Vijay G.; Ulirsch, Jacob C.; Tchaikovskii, Vassili; Ludwig, Leif S.; Wakabayashi, Aoi; Kadirvel, Senkottuvelan; Lindsley, R. Coleman; Bejar, Rafael; Shi, Jiahai; Lovitch, Scott B.; Bishop, David F.; Steensma, David P.

    2015-01-01

    Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic anemia. The proband was noted to have dyserythropoiesis and iron overload. After an extensive diagnostic evaluation that did not provide insight into the cause of the disease, whole-exome sequencing of multiple family members revealed the presence of a mutation in the X chromosomal gene ALAS2, which encodes 5?-aminolevulinate synthase 2, in the affected females. We determined that this mutation (Y365C) impairs binding of the essential cofactor pyridoxal 5?-phosphate to ALAS2, resulting in destabilization of the enzyme and consequent loss of function. X inactivation was not highly skewed in wbc from the affected individuals. In contrast, and consistent with the severity of the ALAS2 mutation, there was a complete skewing toward expression of the WT allele in mRNA from reticulocytes that could be recapitulated in primary erythroid cultures. Together, the results of the X inactivation and mRNA studies illustrate how this X-linked dominant mutation in ALAS2 can perturb normal erythropoiesis through cell-nonautonomous effects. Moreover, our findings highlight the value of whole-exome sequencing in diagnostically challenging cases for the identification of disease etiology and extension of the known phenotypic spectrum of disease. PMID:25705881

  8. The Prevalence of Anemia in Head Start Children. Nutrition Evaluation, 1968-69.

    ERIC Educational Resources Information Center

    Mickelsen, Olaf; And Others

    Concern over the nutritional status of the disadvantaged in America led to this study describing the prevalence of anemia among Head Start children in Pontiac, Michigan. Hemoglobin and hematocrit determinations, along with measurements of height and weight, were performed on 77 children, 4 to 6 years old, enrolled in Head Start classes. These…

  9. FETAL ANEMIA FOLLOWING MATERNAL EXPOSURE TO 5-FLUOROURACIL IN THE RAT

    EPA Science Inventory

    This study examined dose-dependent changes in fetal hematology after maternal 5-FU exposure (0, 20, 30, 40 mg/kg on GD14) to assess 1) hematopoiesis as a potential target for its developmental toxicity, and 2) the significance of the resultant fetal anemia to developmental outcom...

  10. Acute cholestatic hepatitis a virus infection presenting with hemolytic anemia and renal failure: a case report.

    PubMed

    Lapp, Robert T; Rochling, Fedja

    2013-01-01

    Hepatitis A virus is the most common acute viral hepatitis worldwide with approximately 1.5 million cases annually. Hepatitis A virus infection in general is self-limited. In rare cases, hepatitis A virus infection may cause renal failure, hemolytic anemia, and/or cholestasis. We report the first case of acute cholestatic hepatitis A virus infection complicated by hemolytic anemia, and renal failure in one patient. A 42-year-old Caucasian male presented with cholestasis, hemolytic anemia and renal failure after consuming street tacos in Central and South America while on a business trip. His protracted course required corticosteroid therapy, multiple sessions of plasma exchange, and numerous units of packed red blood cells. This case demonstrates the importance of vaccination in high-risk adults. A prompt diagnosis of acute hepatitis A virus infection is essential, as uncommon presentations may delay diagnosis leading to permanent morbidity and potentially death in fulminant cases. We also demonstrate the efficacy of treatment of cholestatic hepatitis A virus infection, hemolytic anemia, and renal failure with corticosteroids and plasma exchange. PMID:25431704

  11. Tolosa-Hunt syndrome in a patient with autoimmune hemolytic anemia.

    PubMed

    Carrieri, Pietro Biagio; Montella, Silvana; Petracca, Maria; Cerullo, Giovanni; Elefante, Andrea

    2010-10-01

    Tolosa-Hunt syndrome is a steroid responsive painful opthalmoplegia due to a nonspecific inflammation of the cavernous sinus. Autoimmune hemolytic anemia is caused by antibodies directed against unmodified autologous red cells. They are both rare conditions. Here we describe the simultaneous occurrence of Tolosa-Hunt syndrome and severe hemolytic crisis in the same patient. PMID:20718692

  12. Iron chelation with deferasirox in two patients with HFE hemochromatosis and chronic anemia.

    PubMed

    Nagler, Michael; Gregor, M; Wuillemin, W A

    2011-01-01

    We present 2 patients with hyperferritinemia, increased liver iron and hemochromatosis-associated HFE genotypes. At diagnosis, both patients had chronic anemia that prevented initiation of phlebotomy. Iron chelation with deferasirox proved to be a safe and effective means of substantially lowering ferritin levels. PMID:21659727

  13. Feline porphyria associated with anemia, severe hepatic disease, and renal calculi

    PubMed Central

    Schnier, Jonathan J.; Hanna, Paul

    2010-01-01

    A 13-year-old, neutered male domestic cat presented with signs of weight loss, anemia, and hepatomegaly. Pathognomonic signs of porphyria were identified. Charcoal-like renal calculi and severe liver changes were observed, neither of which has been previously reported in association with feline porphyria. PMID:21197209

  14. Tacrolimus versus Cyclosporine after Hematopoietic Cell Transplantation for Acquired Aplastic Anemia.

    PubMed

    Inamoto, Yoshihiro; Flowers, Mary E D; Wang, Tao; Urbano-Ispizua, Alvaro; Hemmer, Michael T; Cutler, Corey S; Couriel, Daniel R; Alousi, Amin M; Antin, Joseph H; Gale, Robert Peter; Gupta, Vikas; Hamilton, Betty K; Kharfan-Dabaja, Mohamed A; Marks, David I; Ringdén, Olle T H; Socié, Gérard; Solh, Melhem M; Akpek, Görgün; Cairo, Mitchell S; Chao, Nelson J; Hayashi, Robert J; Nishihori, Taiga; Reshef, Ran; Saad, Ayman; Shah, Ami; Teshima, Takanori; Tallman, Martin S; Wirk, Baldeep; Spellman, Stephen R; Arora, Mukta; Martin, Paul J

    2015-10-01

    Combinations of cyclosporine (CSP) with methotrexate (MTX) have been widely used for immunosuppression after allogeneic transplantation for acquired aplastic anemia. We compared outcomes with tacrolimus (TAC)+MTX versus CSP+MTX after transplantation from HLA-identical siblings (SIB) or unrelated donors (URD) in a retrospective cohort of 949 patients with severe aplastic anemia. Study endpoints included hematopoietic recovery, graft failure, acute graft-versus-host disease (GVHD), chronic GVHD, and mortality. TAC+MTX was used more frequently in older patients and, in recent years, in both SIB and URD groups. In multivariate analysis, TAC+MTX was associated with a lower risk of mortality in URD recipients and with slightly earlier absolute neutrophil count recovery in SIB recipients. Other outcomes did not differ statistically between the 2 regimens. No firm conclusions were reached regarding the relative merits of TAC+MTX versus CSP+MTX after hematopoietic cell transplantation for acquired aplastic anemia. Prospective studies would be needed to determine whether the use of TAC+MTX is associated with lower risk of mortality in URD recipients with acquired aplastic anemia. PMID:26033280

  15. Oxidative stress as a potential causal factor for autoimmune hemolytic anemia and systemic lupus erythematosus.

    PubMed

    Fujii, Junichi; Kurahashi, Toshihiro; Konno, Tasuku; Homma, Takujiro; Iuchi, Yoshihito

    2015-05-01

    The kidneys and the blood system mutually exert influence in maintaining homeostasis in the body. Because the kidneys control erythropoiesis by producing erythropoietin and by supporting hematopoiesis, anemia is associated with kidney diseases. Anemia is the most prevalent genetic disorder, and it is caused by a deficiency of glucose 6-phosphate dehydrogenase (G6PD), for which sulfhydryl oxidation due to an insufficient supply of NADPH is a likely direct cause. Elevated reactive oxygen species (ROS) result in the sulfhydryl oxidation and hence are another potential cause for anemia. ROS are elevated in red blood cells (RBCs) under superoxide dismutase (SOD1) deficiency in C57BL/6 mice. SOD1 deficient mice exhibit characteristics similar to autoimmune hemolytic anemia (AIHA) and systemic lupus erythematosus (SLE) at the gerontic stage. An examination of AIHA-prone New Zealand Black (NZB) mice, which have normal SOD1 and G6PD genes, indicated that ROS levels in RBCs are originally high and further elevated during aging. Transgenic overexpression of human SOD1 in erythroid cells effectively suppresses ROS elevation and ameliorates AIHA symptoms such as elevated anti-RBC antibodies and premature death in NZB mice. These results support the hypothesis that names oxidative stress as a risk factor for AIHA and other autoimmune diseases such as SLE. Herein we discuss the association between oxidative stress and SLE pathogenesis based mainly on the genetic and phenotypic characteristics of NZB and New Zealand white mice and provide insight into the mechanism of SLE pathogenesis. PMID:25949934

  16. Estimating Rates of Psychosocial Problems in Urban and Poor Children with Sickle Cell Anemia.

    ERIC Educational Resources Information Center

    Barbarin, Oscar A.; And Others

    1994-01-01

    Examined adjustment problems for children and adolescents with sickle cell anemia (SCA). Parents provided information on social, emotional, academic, and family adjustment of 327 children with SCA. Over 25% of children had emotional adjustment problems in form of internalizing symptoms (anxiety and depression); at least 20% had problems related to…

  17. Impacts of parathyroidectomy on renal anemia and nutritional status of hemodialysis patients with secondary hyperparathyroidism

    PubMed Central

    Chen, Chen; Wu, Hua; Zhong, Lin; Wang, Xin; Xing, Zhuang-Jie; Gao, Bi-Hu

    2015-01-01

    The aim of this study was to investigate the impacts of parathyroidectomy (PTX) towards the renal anemia and nutritional status of hemodialysis patients with secondary hyperparathyroidism (SHPT). 32 patients, enrolled into the blood purification center of our hospital for the hemodialysis treatment, were collected and divided into the PTX group and the non-PTX group, with 16 patients in each group. The changes of relevant indicators such as immunoreactive parathyroid hormone (iPTH), anemia and nutrition were observed before, 1-, 3-, 6-month after the treatment. The contents of iPTH, Ca, P and Ca × P of the PTX group decreased rapidly 1 month after the surgery; while Hb and Hct increased significantly from the 1st postoperative month; the dosage of EPO was significantly reduced 3-month after the surgery; the content of Alb gradually increased from the 3rd postoperative month; the content of TG decreased significantly from the 6th postoperative month; while the contents of BMI and TSF increased significantly from the 6th postoperative month, which exhibited the statistically significant differences when compared with the preoperative and the non-PTX group (P < 0.05). PTX could quickly reduce the iPTH level and significantly improve the renal anemia and nutritional status; SHPT was the important factor that would affect the renal anemia and malnutrition; PTX could reduce the amount of EPO, and reduce the economic burden of patients. PMID:26309665

  18. FLOW CYTOMETRIC DETECTION OF ABNORMAL FETAL ERYTHROPOIESIS: APPLICATION TO 5-FLUOROURACIL-INDUCED ANEMIA

    EPA Science Inventory

    Previously, we observed that administration of 20-40 mg/kg 5-fluorouracil (5-FU) to pregnant rats on gestational day (GD) 14 produced fetal anemia on GD 16-17, as evidenced by dose-dependent decreases in the cell counts, hematocrit, and hemoglobin content of fetal blood obtained ...

  19. X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.

    PubMed

    Sankaran, Vijay G; Ulirsch, Jacob C; Tchaikovskii, Vassili; Ludwig, Leif S; Wakabayashi, Aoi; Kadirvel, Senkottuvelan; Lindsley, R Coleman; Bejar, Rafael; Shi, Jiahai; Lovitch, Scott B; Bishop, David F; Steensma, David P

    2015-04-01

    Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic anemia. The proband was noted to have dyserythropoiesis and iron overload. After an extensive diagnostic evaluation that did not provide insight into the cause of the disease, whole-exome sequencing of multiple family members revealed the presence of a mutation in the X chromosomal gene ALAS2, which encodes 5'-aminolevulinate synthase 2, in the affected females. We determined that this mutation (Y365C) impairs binding of the essential cofactor pyridoxal 5'-phosphate to ALAS2, resulting in destabilization of the enzyme and consequent loss of function. X inactivation was not highly skewed in wbc from the affected individuals. In contrast, and consistent with the severity of the ALAS2 mutation, there was a complete skewing toward expression of the WT allele in mRNA from reticulocytes that could be recapitulated in primary erythroid cultures. Together, the results of the X inactivation and mRNA studies illustrate how this X-linked dominant mutation in ALAS2 can perturb normal erythropoiesis through cell-nonautonomous effects. Moreover, our findings highlight the value of whole-exome sequencing in diagnostically challenging cases for the identification of disease etiology and extension of the known phenotypic spectrum of disease. PMID:25705881

  20. Two Cases of Primary Cold Agglutinin Disease Associated with Megaloblastic Anemia

    PubMed Central

    Kudo, Naoko; Takagishi, Katsushige; Saigo, Katsuyasu

    2015-01-01

    We report two cases of primary cold agglutinin disease (CAD) associated with megaloblastic anemia in Japanese elderly patients. Case 1 was a 67-year-old male and Case 2 was a 55-year-old male. Both patients were diagnosed with primary CAD, with continuously high cold agglutinin titers (1?:?>8,192 and 1?:?16,834, resp.), monoclonal IgM-kappa light chains, and no underlying disease. In addition, both patients had megaloblastic anemia due to vitamin B12 deficiency. One patient received rituximab and both received vitamin 12 supplementation. To date, no cooccurrence of primary CAD and megaloblastic anemia has been emphasized. Thus, the association of these hematological diseases may be incidental; however, given that CAD is an autoimmune disease which may show antibodies against intrinsic factor and gastric parietal cells, this association was thought to be probably not a coincidence. Clinicians should be aware of the possible simultaneous presence of autoimmune hemolytic/megaloblastic anemia in patients with primary CAD. PMID:25918651

  1. Two cases of primary cold agglutinin disease associated with megaloblastic anemia.

    PubMed

    Imashuku, Shinsaku; Kudo, Naoko; Takagishi, Katsushige; Saigo, Katsuyasu

    2015-01-01

    We report two cases of primary cold agglutinin disease (CAD) associated with megaloblastic anemia in Japanese elderly patients. Case 1 was a 67-year-old male and Case 2 was a 55-year-old male. Both patients were diagnosed with primary CAD, with continuously high cold agglutinin titers (1?:?>8,192 and 1?:?16,834, resp.), monoclonal IgM-kappa light chains, and no underlying disease. In addition, both patients had megaloblastic anemia due to vitamin B12 deficiency. One patient received rituximab and both received vitamin 12 supplementation. To date, no cooccurrence of primary CAD and megaloblastic anemia has been emphasized. Thus, the association of these hematological diseases may be incidental; however, given that CAD is an autoimmune disease which may show antibodies against intrinsic factor and gastric parietal cells, this association was thought to be probably not a coincidence. Clinicians should be aware of the possible simultaneous presence of autoimmune hemolytic/megaloblastic anemia in patients with primary CAD. PMID:25918651

  2. Iron-Fortified Drinking Water Studies for the Prevention of Children's Anemia in Developing Countries

    PubMed Central

    Dutra-de-Oliveira, Jose E.; Marchini, J. Sergio; Lamounier, Joel; Almeida, Carlos A. N.

    2011-01-01

    Anemia and iron deficiency should receive special attention considering their high prevalence and serious consequences. For prevention, globally it is recommended to increase dietary iron intake, iron fortification of industrialized foods, and medical iron supplementation. Food fortification for the prevention of iron deficiency in developing countries should consider carriers locally available and consumed daily, requiring limited infrastructure and technology. Drinking water is the iron carrier we have been working for years for the prevention of iron deficiency and anemia in small children in Brazil. It was shown that studies with iron-fortified drinking water were proved to be effective on children's anemia prevention. Water is found everywhere, consumed daily by everyone may be easily fortified with simple technology, is low priced and was effective on the prevention of children's anemia. Fortification of drinking water with iron was locally implemented with the direct participation of the government and community. Government authorities, health personnel and population were part of the project and responsible for its community implementation. The mayor/municipality permitted and supported the proposal to supply it to children at their day-care centers. To keep the children drinking water iron fortified supply an officially authorized legislation was also approved. PMID:21826263

  3. Hemoglobin Aggregation in Single Red Blood Cells of Sickle Cell Anemia

    NASA Astrophysics Data System (ADS)

    Nishio, Izumi; Tanaka, Toyoichi; Sun, Shao-Tang; Imanishi, Yuri; Tsuyoshi Ohnishi, S.

    1983-06-01

    A laser light scattering technique was used to observe the extent of hemoglobin aggregation in solitary red blood cells of sickle cell anemia. Hemoglobin aggregation was confirmed in deoxygenated cells. The light scattering technique can also be applied to cytoplasmic studies of any biological cell.

  4. Children with Sickle-Cell Anemia: Parental Relations, Parent-Child Relations, and Child Behavior.

    ERIC Educational Resources Information Center

    Evans, Robert C.; And Others

    1988-01-01

    Investigated the influence of a child with sickle-cell anemia on parental affiliation, parent-child relationships, and parents' perception of their child's behavior. In the sickle-cell group, parents' interpersonal relationship suffered; parent-child relationship and child behavior correlated significantly; and single-parent families estimated…

  5. Effects of maternal education on diet, anemia, and iron deficiency in Korean school-aged children

    PubMed Central

    2011-01-01

    Background We investigated the relationship among socioeconomic status factors, the risk of anemia, and iron deficiency among school-aged children in Korea. Methods The sample consisted of fourth-grade students aged 10 y recruited from nine elementary schools in Korean urban areas in 2008 (n = 717). Anthropometric and blood biochemistry data were obtained for this cross-sectional observational study. Anemia was defined as hemoglobin levels lower than 11.5 g/dl. Iron deficiency was defined as serum iron levels lower than 40 ug/dl. We also obtained data on parental education from questionnaires and on children's diets from 3-day food diaries. Parental education was categorized as low or high, with the latter representing an educational level beyond high school. Results Children with more educated mothers were less likely to develop anemia (P = 0.0324) and iron deficiency (P = 0.0577) than were those with less educated mothers. This group consumed more protein (P = 0.0004) and iron (P = 0.0012) from animal sources than did the children of less educated mothers, as reflected by their greater consumption of meat, poultry, and derivatives (P < 0.0001). Logistic regression analysis revealed a significant inverse relationship between maternal education and the prevalence of anemia (odds ratio: 0.52; 95% confidence interval: 0.32, 0.85). Conclusions As a contributor to socioeconomic status, maternal education is important in reducing the risk of anemia and iron deficiency and in increasing children's consumption of animal food sources. PMID:22087564

  6. Identification of novel microRNA signatures linked to acquired aplastic anemia.

    PubMed

    Hosokawa, Kohei; Muranski, Pawel; Feng, Xingmin; Keyvanfar, Keyvan; Townsley, Danielle M; Dumitriu, Bogdan; Chen, Jichun; Kajigaya, Sachiko; Taylor, James G; Hourigan, Christopher S; Barrett, A John; Young, Neal S

    2015-12-01

    Emerging evidence indicates that microRNA control and modulate immunity. MicroRNA have not been investigated in acquired aplastic anemia, a T-cell-mediated immune disease. Analysis of 84 microRNA expression levels in CD4(+) and CD8(+) T cells of patients with aplastic anemia revealed concurrent down-regulation of miR-126-3p, miR-145-5p, miR-223-3p, and miR-199a-5p (>3-fold change, P<0.05) in both T-cell populations, which were unique in aplastic anemia compared to other hematologic disorders. MiR-126-3p and miR-223-3p were down-regulated in CD4(+) T effector memory cells, and miR-126-3p, miR-145-5p, and miR-223-3p were down-regulated in CD8(+) T effector memory and terminal effector cells. Successful immunosuppressive therapy was associated with restoration to normal expression levels of miR-126-3p, miR-145-5p, and miR-223-3p (>2-fold change, P<0.05). In CD4(+) and CD8(+) T cells in aplastic anemia patients, MYC and PIK3R2 were up-regulated and proved to be targets of miR-145-5p and miR-126-3p, respectively. MiR-126-3p and miR-145-5p knockdown promoted proliferation and increased interferon-? and granzyme B production in both CD4(+) and CD8(+) T cells. Our work describes previously unknown regulatory roles of microRNA in T-cell activation in aplastic anemia, which may open a new perspective for development of effective therapy. Clinicaltrials.gov identifier: NCT 01623167. PMID:26354756

  7. The anemia of primary autonomic failure and its reversal with recombinant erythropoietin

    NASA Technical Reports Server (NTRS)

    Biaggioni, I.; Robertson, D.; Krantz, S.; Jones, M.; Haile, V.

    1994-01-01

    OBJECTIVE: To determine if chronic sympathetic deprivation is associated with anemia and a low erythropoietin response. DESIGN: Survey of the prevalence and characteristics of anemia in patients with severe primary autonomic failure. SETTING: A referral service for autonomic failure in a tertiary teaching hospital. PATIENTS: 84 patients with primary autonomic failure who had symptomatic orthostatic hypotension. INTERVENTION: Open-label trial with human recombinant erythropoietin. RESULTS: Anemia was present in 32 of 84 patients (38%; 95% Cl, 27% to 50%). Plasma norepinephrine levels, measured in patients standing upright, were lower in the patient group with lower hemoglobin levels. Mean values in 22 patients with a hemoglobin level of less than 120 g/L were as follows: hemoglobin, 108 g/L (range, 87 to 118 g/L); hematocrit, 0.33; corrected reticulocyte counts, 0.008; mean corpuscular volume, 89 fL (89 microns 3); serum iron, 16.5 mumol/L (92 micrograms/dL); total iron binding capacity, 43.3 mumol/L (242 micrograms/dL); ferritin, 184 micrograms/L; serum vitamin B12, 410 pmol/L (556 pg/mL); and serum folate, 22.7 nmol/L (10 ng/mL). No relation was found between serum erythropoietin and blood hemoglobin levels. In seven of nine patients with autonomic failure who had hemoglobin levels less than 120 g/L, serum erythropoietin levels decreased below the 95% confidence interval corresponding to patients with iron deficiency anemia. Therapy with recombinant erythropoietin improved mean hemoglobin levels (from 108 to 133 g/L) in all patients treated (n = 5) at relatively low doses (25 to 50 units/kg body weight, subcutaneously, three times a week). CONCLUSIONS: Our data support the hypothesis that the sympathetic nervous system stimulates erythropoiesis in humans because anemia is a frequent occurrence in patients with severe autonomic failure and is associated with a blunted erythropoietin response.

  8. Identification of novel microRNA signatures linked to acquired aplastic anemia

    PubMed Central

    Hosokawa, Kohei; Muranski, Pawel; Feng, Xingmin; Keyvanfar, Keyvan; Townsley, Danielle M.; Dumitriu, Bogdan; Chen, Jichun; Kajigaya, Sachiko; Taylor, James G.; Hourigan, Christopher S.; Barrett, A. John; Young, Neal S.

    2015-01-01

    Emerging evidence indicates that microRNA control and modulate immunity. MicroRNA have not been investigated in acquired aplastic anemia, a T-cell-mediated immune disease. Analysis of 84 microRNA expression levels in CD4+ and CD8+ T cells of patients with aplastic anemia revealed concurrent down-regulation of miR-126-3p, miR-145-5p, miR-223-3p, and miR-199a-5p (>3-fold change, P<0.05) in both T-cell populations, which were unique in aplastic anemia compared to other hematologic disorders. MiR-126-3p and miR-223-3p were down-regulated in CD4+ T effector memory cells, and miR-126-3p, miR-145-5p, and miR-223-3p were down-regulated in CD8+ T effector memory and terminal effector cells. Successful immunosuppressive therapy was associated with restoration to normal expression levels of miR-126-3p, miR-145-5p, and miR-223-3p (>2-fold change, P<0.05). In CD4+ and CD8+ T cells in aplastic anemia patients, MYC and PIK3R2 were up-regulated and proved to be targets of miR-145-5p and miR-126-3p, respectively. MiR-126-3p and miR-145-5p knockdown promoted proliferation and increased interferon-? and granzyme B production in both CD4+ and CD8+ T cells. Our work describes previously unknown regulatory roles of microRNA in T-cell activation in aplastic anemia, which may open a new perspective for development of effective therapy. Clinicaltrials.gov identifier: NCT 01623167 PMID:26354756

  9. Impacts of anemia on 3-year ischemic events in patients undergoing percutaneous coronary intervention: a propensity-matched study

    PubMed Central

    Wang, Xiaoyan; Qiu, Miaohan; Li, Jing; Wang, Heyang; Qi, Jing; Wang, Geng; Xu, Kai; Liu, Haiwei; Zhao, Xin; Jing, Quanmin; Han, Yaling

    2015-01-01

    Background Anemia correlates with worse outcomes in patients undergoing percutaneous coronary intervention (PCI), improved anemia can improve the outcomes in patients who underwent PCI. But the influence of anemia on long-term ischemic events after PCI remains unknown. Methods We analyzed 8,825 consecutive patients who underwent PCI at General Hospital of Shenyang Military Region and identified 581 patients with anemia. Patients (anemia vs. no anemia) were compared using a propensity score analysis to best match between groups. The main outcome of this study is 3-year ischemic events after PCI, the secondary outcome of this study is 3-year mortality and major adverse cardiac events (MACE) after PCI. Results Compared with nonanemic patients, anemic patients were often female (38.90% vs. 14.51%) and elder patients (66.44% vs. 34.95%). Anemic patients have lower left ventricular ejection fraction (LVEF) and creatinine clearance (Ccr) and were more likely to have history of cardiovascular and cerebrovascular diseases, hypertension, peripheral vascular diseases (PVD) (P<0.05). However, the prevalences of diabetes and hyperlipidemia were lower in anemic patients (P<0.01). Anemia was an independent predictor for 3-year ischemic events [hazard ratio (HR): 2.20, 95% confidence intervals (CI): 1.61-3.00, P<0.01], 3-year mortality (HR: 3.58, 95% CI: 1.75-7.32, P<0.01) and 3-year MACE (HR: 2.14, 95% CI: 1.64-2.79, P<0.01) after PCI in post-match samples. The incidence of 3-year ischemic events was 41.0% and 19.3% in anemic and nonanemic patients, respectively. Conclusions Anemia is an independent predictor for 3-year ischemic events, 3-year mortality and 3-year MACE in patients who underwent PCI. Further studies need to explore the impact of the pathogenesis and progress, prevention and therapy of anemia on the outcome of patients undergoing PCI. PMID:26716033

  10. Does Smoke from Biomass Fuel Contribute to Anemia in Pregnant Women in Nagpur, India? A Cross-Sectional Study

    PubMed Central

    Page, Charlotte M.; Patel, Archana; Hibberd, Patricia L.

    2015-01-01

    Background Anemia affects upwards of 50% of pregnant women in developing countries and is associated with adverse outcomes for mother and child. We hypothesized that exposure to smoke from biomass fuel – which is widely used for household energy needs in resource-limited settings – could exacerbate anemia in pregnancy, possibly as a result of systemic inflammation. Objective To evaluate whether exposure to smoke from biomass fuel (wood, straw, crop residues, or dung) as opposed to clean fuel (electricity, liquefied petroleum gas, natural gas, or biogas) is an independent risk factor for anemia in pregnancy, classified by severity. Methods A secondary analysis was performed using data collected from a rural pregnancy cohort (N = 12,782) in Nagpur, India in 2011-2013 as part of the NIH-funded Maternal and Newborn Health Registry Study. Multinomial logistic regression was used to estimate the effect of biomass fuel vs. clean fuel use on anemia in pregnancy, controlling for maternal age, body mass index, education level, exposure to household tobacco smoke, parity, trimester when hemoglobin was measured, and receipt of prenatal iron and folate supplements. Results The prevalence of any anemia (hemoglobin < 11 g/dl) was 93% in biomass fuel users and 88% in clean fuel users. Moderate-to-severe anemia (hemoglobin < 10 g/dl) occurred in 53% and 40% of the women, respectively. Multinomial logistic regression showed higher relative risks of mild anemia in pregnancy (hemoglobin 10-11 g/dl; RRR = 1.38, 95% CI = 1.19-1.61) and of moderate-to-severe anemia in pregnancy (RRR = 1.79, 95% CI = 1.53-2.09) in biomass fuel vs. clean fuel users, after adjusting for covariates. Conclusion In our study population, exposure to biomass smoke was associated with higher risks of mild and moderate-to-severe anemia in pregnancy, independent of covariates. Trial Registration ClinicalTrials.gov NCT 01073475 PMID:26024473

  11. Induction Murine Models of Chronic Fatigue Syndrome by Brucella abortus Antigen Injections: Is Anemia Induced or Not?

    PubMed Central

    Moriya, Junji; He, Qiang; Uenishi, Hiroaki; Akazawa, Sumiyo; Yamakawa, Jun-ichi; Kobayashi, Junji; Ishigaki, Yasuhito

    2015-01-01

    To investigate whether Brucella abortus (BA) antigen injections lead to anemia, and to establish an appropriate Chronic Fatigue Syndrome (CFS) animal model by BA injections, 6 repeated injections of BA antigen were fulfilled every 2 weeks. At a high dose of 1?1010 particles/mouse, anemia was induced within 2 weeks and then recovered a lot at the end of the research, while at a moderate dose of 1?108 (3 injections) shifting to 1?109/mouse (3 injections) anemia was absent. In both groups running wheel activity remained very low even 6 weeks after the last injection. PMID:26171388

  12. Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent

    PubMed Central

    Ganie, Mohd Ashraf; Ali, Imran; Ahangar, A. G.; Wani, Mohd Maqbool; Ahmed, Sanjeed; Bhat, Manzoor Ahmed; Seth, Sulaiman; Mudasir, Syed

    2012-01-01

    Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein. The disorder is rare and has not been reported from our community which has high background of consanguinity. We report a six years old girl who presented with diabetes mellitus which remitted after thiamine replacement. The girl in addition had sensorineural deafness, reinopathy, atrial septal defect and megaloblastic anemia which responded to high doses of thymine. This is the first case reported from Kashmir valley and third from India. The presentation and management in such cases is discussed. PMID:22837935

  13. Prevalence of anemia and associated factors in older adults: evidence from the SABE Study

    PubMed Central

    Corona, Ligiana Pires; Duarte, Yeda Aparecida de Oliveira; Lebrão, Maria Lucia

    2014-01-01

    OBJECTIVE To assess the prevalence of anemia and associated factors in older adults. METHODS The prevalence and factors associated with anemia in older adults were studied on the basis of the results of the Saúde, Bem-Estar e Envelhecimento (SABE – Health, Welfare and Aging) study. A group of 1,256 individuals were interviewed during the third wave of the SABE study performed in Sao Paulo, SP, in 2010. The study included 60.4% females; the mean age of the participants was 70.4 years, and their average education was 5.3 years. The dependent variable was the presence of anemia (hemoglobin levels: 12 g/dL in women and 13 g/dL in men). Descriptive analysis and hierarchical logistic regression were performed. The independent variables were as follows: a) demographics: gender, age, and education and b) clinical characteristics: self-reported chronic diseases, presence of cognitive decline and depression symptoms, and body mass index. RESULTS The prevalence of anemia was 7.7% and was found to be higher in oldest adults. There was no difference between genders, although the hemoglobin distribution curve in women showed a displacement toward lower values in comparison with the distribution curve in men. Advanced age (OR = 1.07; 95%CI 0.57;1.64; p < 0.001), presence of diabetes (OR = 2.30; 95%CI 1.33;4.00; p = 0.003), cancer (OR = 2.72; 95%CI 1.2;6.11; p = 0.016), and presence of depression symptoms (OR = 1.75; 95%CI 1.06;2.88; p = 0.028) remained significant even after multiple analyses. CONCLUSIONS The prevalence of anemia in older adults was 7.7% and was mainly associated with advanced age and presence of chronic diseases. Thus, anemia can be an important marker in the investigation of health in older adults because it can be easily diagnosed and markedly affects the quality of life of older adults. PMID:25372162

  14. Flavopiridol and Vorinostat in Treating Patients With Relapsed or Refractory Acute Leukemia or Chronic Myelogenous Leukemia or Refractory Anemia

    ClinicalTrials.gov

    2013-04-01

    Blastic Phase Chronic Myelogenous Leukemia; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Refractory Anemia With Excess Blasts; Relapsing Chronic Myelogenous Leukemia; Untreated Adult Acute Lymphoblastic Leukemia; Untreated Adult Acute Myeloid Leukemia

  15. The development of anemia is associated to poor prognosis in NKF/KDOQI stage 3 chronic kidney disease

    PubMed Central

    2013-01-01

    Background Anemia is a common condition in CKD that has been identified as a cardiovascular (CV) risk factor in end-stage renal disease, constituting a predictor of low survival. The aim of this study was to define the onset of anemia of renal origin and its association with the evolution of kidney disease and clinical outcomes in stage 3 CKD (CKD-3). Methods This epidemiological, prospective, multicenter, 3-year study included 439 CKD-3 patients. The origin of nephropathy and comorbidity (Charlson score: 3.2) were recorded. The clinical characteristics of patients that developed anemia according to EBPG guidelines were compared with those that did not, followed by multivariate logistic regression, Kaplan-Meier curves and ROC curves to investigate factors associated with the development of renal anemia. Results During the 36-month follow-up period, 50% reached CKD-4 or 5, and approximately 35% were diagnosed with anemia (85% of renal origin). The probability of developing renal anemia was 0.12, 0.20 and 0.25 at 1, 2 and 3 years, respectively. Patients that developed anemia were mainly men (72% anemic vs. 69% non-anemic). The mean age was 68 vs. 65.5 years and baseline proteinuria was 0.94 vs. 0.62 g/24h (anemic vs. non anemic, respectively). Baseline MDRD values were 36 vs. 40 mL/min and albumin 4.1 vs. 4.3 g/dL; reduction in MDRD was greater in those that developed anemia (6.8 vs. 1.6 mL/min/1.73 m2/3 years). These patients progressed earlier to CKD-4 or 5 (18 vs. 28 months), with a higher proportion of hospitalizations (31 vs. 16%), major CV events (16 vs. 7%), and higher mortality (10 vs. 6.6%) than those without anemia. Multivariate logistic regression indicated a significant association between baseline hemoglobin (OR=0.35; 95% CI: 0.24-0.28), glomerular filtration rate (OR=0.96; 95% CI: 0.93-0.99), female (OR=0.19; 95% CI: 0.10-0.40) and the development of renal anemia. Conclusions Renal anemia is associated with a more rapid evolution to CKD-4, and a higher risk of CV events and hospitalization in non-dialysis-dependent CKD patients. This suggests that special attention should be paid to anemic CKD-3 patients. PMID:23295149

  16. Severity of Anemia Predicts Hospital Length of Stay but Not Readmission in Patients with Chronic Kidney Disease

    PubMed Central

    Garlo, Katherine; Williams, Deanna; Lucas, Lee; Wong, Rocket; Botler, Joel; Abramson, Stuart; Parker, Mark G.

    2015-01-01

    Abstract The aim of this study was to examine the relationship of severe anemia to hospital readmission and length of stay (LOS) in patients with chronic kidney disease (CKD) stage 3–5. Compared with the general population, patients with moderate CKD have a higher hospital readmission rate and LOS. Anemia in patients with moderate CKD is associated with higher morbidity and mortality. The influence of anemia on hospital outcomes in patients with moderate CKD has not been characterized. We conducted a retrospective cohort study at Maine Medical Center, a 606-bed academic tertiary care hospital. Patients with CKD stages 3–5 and not on dialysis admitted during February 2013 to January 2014 were eligible. Patients with end stage renal disease on hemodialysis or peritoneal dialysis, kidney transplant, acute kidney injury, gastrointestinal bleeding, active malignancy, pregnancy, and surgery were excluded. The cohort was split into severe anemia (hemoglobin ?9?g/dL) versus a comparison group (hemoglobin >9?g/dL), and examined for differences in 30-day hospital readmission and LOS. In this study, the data of 1141 patients were included, out of which 156 (13.7%) had severe anemia (mean hemoglobin 8.1?g/dL, SD 0.8). Severe anemia was associated with increased hospital LOS (mean 6.4 (SD 6.0) days vs mean 4.5 (SD 4.0) days, P?anemia are at risk for increased hospital LOS. Interventions targeting this high-risk population, including outpatient management of anemia, may benefit patient care and save costs through improved hospital outcomes. PMID:26107682

  17. [Clinical and socio-medical factors related to anemia in pregnant women: prevalence study in Mara Township, Venezuela, 2013].

    PubMed

    Avila, Ayari Guadalupe; García, Lenis; Gómez, María; Villanueva, Nixon; Benítez, Betty; Fuentes, Belkis

    2014-01-01

    Anemia during pregnancy is a frequent finding and can increase morbidity and mortality in both mother and child. This paper aims to identify clinical, social and healthcare-related factors that affect the incidence of anemia in pregnant patients in a primary care prenatal clinic in Mara municipality. This is a descriptive field study that took place between November and December, 2013. Sixty-two patients were selected through non-probability sampling among four primary care clinics in the municipality of Mara. A high prevalence of anemia (76%) was found, with normal MCV (mean corpuscular volume), normal MCH (mean corpuscular hemoglobin), and normal MCHC (mean corpuscular hemoglobin concentration). In only 36% of cases serum iron levels fell below 50 ug/dl. Some clinical factors found to be related to anemia in pregnancy are multiparity (69.9%), infections before or during pregnancy (77.5%), low protein intake (91.8%), less than a year birth interval (63.3%), and gestational age (89.8%). The main socioeconomic factor related to anemia is poverty (89.8%). Prenatal checkup schedule needs to be adjusted in primary care clinics in the municipality of Mara taking into consideration clinical and socioeconomic factors in order to lower the prevalence of anemia during pregnancy in this population. PMID:25353165

  18. Distinct Roles of Urinary Liver-Type Fatty Acid-Binding Protein in Non-Diabetic Patients with Anemia

    PubMed Central

    Imai, Naohiko; Yasuda, Takashi; Kamijo-Ikemori, Atsuko; Shibagaki, Yugo; Kimura, Kenjiro

    2015-01-01

    Background Various stresses including ischemia are known to up-regulate renal L-FABP gene expression and increase the urinary excretion of L-FABP. In diabetic patients with anemia, the urinary excretion of L-FABP is significantly increased. We studied the clinical significance of urinary L-FABP and its relationship with anemia in non-diabetic patients. Subjects and Methods A total of 156 patients were studied in this retrospective cross-sectional analysis. The associations between anemia and urinary L-FABP levels, and the predictors of urinary L-FABP levels in non-diabetic patients were evaluated. Results Urinary L-FABP levels were significantly higher in patients with anemia compared to those in patients without anemia. Similarly, the urinary L-FABP levels were significantly higher in patients with albuminuria compared to those in patients without albuminuria. Urinary L-FABP levels correlated with urinary albumin-to-creatinine ratios, estimated glomerular filtration rates, body mass index, and hemoglobin levels. Multivariate linear regression analysis determined that hemoglobin levels (? = -0.249, P = 0.001) and urinary albumin-to-creatinine ratios (? = 0.349, P < 0.001) were significant predictors of urinary L-FABP levels. Conclusions Urinary L-FABP is strongly associated with anemia in non-diabetic patients. PMID:26010898

  19. A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia

    PubMed Central

    Mamoune, Asmaa; Bahuau, Michel; Hamel, Yamina; Serre, Valérie; Pelosi, Michele; Habarou, Florence; Nguyen Morel, Marie-Ange; Boisson, Bertrand; Vergnaud, Sabrina; Viou, Mai Thao; Nonnenmacher, Luc; Piraud, Monique; Nusbaum, Patrick; Vamecq, Joseph; Romero, Norma; Ottolenghi, Chris; Casanova, Jean-Laurent; de Lonlay, Pascale

    2014-01-01

    Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia. Myoglobinuria was always triggered by febrile illnesses. We show that the underlying mechanism involves an exacerbation of aldolase A deficiency at high temperatures that affected myoblasts but not erythrocytes. The aldolase A deficiency was rescued by arginine supplementation in vitro but not by glycerol, betaine or benzylhydantoin, three other known chaperones, suggesting that arginine-mediated rescue operated by a mechanism other than protein chaperoning. Lipid droplets accumulated in patient myoblasts relative to control and this was increased by cytokines, and reduced by dexamethasone. Our results expand the clinical spectrum of aldolase A deficiency to isolated temperature-dependent rhabdomyolysis, and suggest that thermolability may be tissue specific. We also propose a treatment for this severe disease. PMID:25392908

  20. Recurrent Fever, Anemia, Arthralgia, and Genu Varum as Late Manifestations of Congenital Syphilis.

    PubMed

    Quaresma, Liliana; Gonçalves, Juan; Estanqueiro, Paula; Salgado, Manuel

    2015-12-01

    We report an unusual case of recurrent fever, inflammatory knee pain, genu varum, persistent anemia, and high erythrocyte sedimentation rate in a 28-month-old boy as late manifestations of congenital syphilis (CS). Despite standard penicillin treatment at the end of the first month of life, it recurred later in life, more than once. In the first relapse, manifested by a likely gumma lesion, the prior penicillin treatment plus a negative venereal disease research laboratory result unduly led to exclusion of CS. A second treatment with penicillin led to complete clinical resolution. Although rare, bow legs, recurrent fever, anemia, and inflammatory arthralgias may be manifestations of late CS. Congenital syphilis should be considered throughout early childhood, especially if history of syphilis infection is present. A negative venereal disease research laboratory result does not exclude late syphilis, present in nearly 30% of these patients. The possibility of atypical symptoms of this "great masquerader" should always be borne in mind. PMID:26587855

  1. Pyrexia in a patient with megaloblastic anemia: a case report and literature review.

    PubMed

    Manuel, Kevin; Padhi, Somanath; G'boy Varghese, Renu

    2013-06-01

    Deficiency of vitamin B12 and/or folic acid as a cause of pyrexia, though known, is rarely reported in literature. We aimed to report a case in a 51 year old woman, who presented with fever and pancytopenia and was diagnosed to have megaloblastic anemia secondary to vitamin B12 and folate deficiency. The pyrexia subsided following the intramuscular injection of vitamin B12 and oral folic acid administration. All the other infective, inflammatory/autoimmune, endocrine causes of pyrexia were excluded by appropriate investigations. Therefore, we suggest that all physicians be aware of megaloblastic anemia as a treatable cause of pyrexia in order to avoid unnecessary costly investigations and antibiotic usage. PMID:24031113

  2. A patient undergoing chronic dialysis whose renal anemia was successfully corrected by treatment with cinacalcet.

    PubMed

    Oshiro, Yoshiyuki; Tanaka, Hisataka; Okimoto, Niro

    2011-08-01

    A 62-year-old female dialysis patient with chronic glomerulonephritis had been receiving hemodialysis therapy for 32 years. In 1985 she underwent a parathyroidectomy for secondary hyperparathyroidism (HPT); however, her parathyroid hormone (PTH) levels gradually increased. Her serum calcium level ranged from 9.0 to 10.0 mg/dL, which caused difficulties in performing vitamin D injection therapy. No parathyroid glands were seen by echography or scintigraphy. On 31 March 2008 her intact PTH (iPTH) level was 895 pg/mL so treatment with cinacalcet 25 mg/day was started. After 3 months her iPTH level decreased to 269 pg/mL and her hemoglobin level increased from 9.3 to 12.9 g/dL. In some cases of severe HPT, anemia improves after parathyroidectomy; however, in this case, cinacalcet improved not only secondary HPT but also anemia. PMID:21455660

  3. IgM autoagglutinins in warm autoimmune hemolytic anemia: a poor prognostic feature.

    PubMed

    McCann, E L; Shirey, R S; Kickler, T S; Ness, P M

    1992-01-01

    The presence of both complete IgM autoagglutinins and IgG autoantibodies in warm autoimmune hemolytic anemia (AIHA) is an uncommon finding. Over a 6-year period, only 5 of 115 (4.1%) patients with AIHA had IgM and IgG autoantibodies. In 3 of the 5 cases, the complete IgM autoagglutinins reacted up to 30 degrees C and these patients responded well to corticosteroid or other therapies for warm AIHA. The 2 patients who had warm (37 degrees C) reactive IgM autoagglutinins, were refractory to corticosteroids, splenectomy and cytotoxic drugs, and died due to the complications of hemolytic anemia. The data in these 5 cases suggest that the thermal amplitude of the IgM antibody in these unusual AIHA cases may be predictive of refractoriness to therapy and poor clinical outcome. PMID:1466193

  4. Infection by Intestinal Parasites, Stunting and Anemia in School-Aged Children from Southern Angola

    PubMed Central

    Oliveira, Dinamene; Atouguia, Jorge; Fortes, Filomeno; Guerra, António

    2015-01-01

    Introduction Intestinal parasites are responsible for morbidity in children worldwide, especially in low income countries. In the present study we determine the prevalence of intestinal parasites and explore its association with anemia and stunting in school-aged children. Methods A cross-sectional study was conducted from September to October 2010 enrolling 328 children attending the primary school in Lubango, the second largest city after the capital Luanda. Stool samples were collected for parasite detection through microscopy and molecular identification of Entamoeba histolytica and Entamoeba dispar. Stunting was assessed using the z-scores of height for age and hemoglobin concentration was determined using a portable hemoglobin analyzing system. Results The global prevalence of pathogenic intestinal parasites was 44.2%, the most common being Ascaris lumbricoides (22.0%), Giardia lamblia (20.1%) and Hymenolepis nana (8.8%). Molecular detection revealed that 13.1% of the children carried E. dispar and 0.3% were infected with E. histolytica. The prevalence of stunting (mild to severe) was 41.5%. Stunting was more frequent in older children (p = 0.006, OR = 1.886), while anemia was more frequent in younger children (p = 0.005, OR = 2.210). The prevalence of anemia was 21.6%, and we found a significant association with infection by H. nana (p = 0.031, OR = 2.449). Conclusions This is one of the few published studies reporting intestinal parasites infection, nutritional status and anemia in children from Angola. Furthermore, the present work highlights the importance of regular intestinal parasites screening in children. PMID:26371758

  5. Acute Heinz-body anemia due to severe cresol poisoning: successful treatment with erythrocytapheresis.

    PubMed Central

    Côté, M A; Lyonnais, J; Leblond, P F

    1984-01-01

    A patient with massive intravascular Heinz-body hemolytic anemia associated with the presence of bizarre-looking erythrocytes following the oral ingestion of approximately 100 mL of "penetrating oil", a petroleum distillate containing 85% kerosene, 12% cresol and 2% surfactant, is described. He was treated successfully with immediate erythrocytapheresis and forced diuresis. Images Fig. 1A Fig. 1B Fig. 1C Fig. 1D PMID:6722696

  6. Management of Dental Extraction in a Female Patient with Fanconi Anemia

    PubMed Central

    Peisker, Andre; Raschke, Gregor Franziskus; Guentsch, Arndt; Roshanghias, Korosh; Schultze-Mosgau, Stefan

    2014-01-01

    Oral surgery in patients with bleeding disorders is associated with a high risk of bleeding during and after surgery. This article is aimed to present the case of an eight-year-old girl suffering from severe Fanconi anemia with pancytopenia who underwent a dental extraction. The hemostatic effect of local administration of tranexamic acid in combination with a primary suture seems to be extremely helpful in order to reduce the necessity of blood products and the risk of postoperative bleeding. PMID:25628690

  7. Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.

    PubMed

    Satchwell, Timothy J; Pellegrin, Stephanie; Bianchi, Paola; Hawley, Bethan R; Gampel, Alexandra; Mordue, Kathryn E; Budnik, Annika; Fermo, Elisa; Barcellini, Wilma; Stephens, David J; van den Akker, Emile; Toye, Ashley M

    2013-11-01

    Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations. Patients exhibit characteristic phenotypes including multinucleate erythroblasts, erythrocytes with hypoglycosylated membrane proteins and an apparent double plasma membrane. Despite ubiquitous expression of SEC23B, the effects of mutations in this gene are confined to the erythroid lineage and the basis of this erythroid specificity remains to be defined. In addition, little is known regarding the stage at which the disparate phenotypes of this disease manifest during erythropoiesis. We employ an in vitro culture system to monitor the appearance of the defining phenotypes associated with congenital dyserythropoietic anemia type II during terminal differentiation of erythroblasts derived from small volumes of patient peripheral blood. Membrane protein hypoglycosylation was detected by the basophilic stage, preceding the onset of multinuclearity in orthochromatic erythroblasts that occurs coincident with the loss of secretory pathway proteins including SEC23A during erythropoiesis. Endoplasmic reticulum remnants were observed in nascent reticulocytes of both diseased and healthy donor cultures but were lost upon further maturation of normal reticulocytes, implicating a defect of ER clearance during reticulocyte maturation in congenital dyserythropoietic anemia type II. We also demonstrate distinct isoform and species-specific expression profiles of SEC23 during terminal erythroid differentiation and identify a prolonged expression of SEC23A in murine erythropoiesis compared to humans. We propose that SEC23A is able to compensate for the absence of SEC23B in mouse erythroblasts, providing a basis for the absence of phenotype within the erythroid lineage of a recently described SEC23B knockout mouse. PMID:23935019

  8. Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis

    PubMed Central

    Satchwell, Timothy J.; Pellegrin, Stephanie; Bianchi, Paola; Hawley, Bethan R.; Gampel, Alexandra; Mordue, Kathryn E.; Budnik, Annika; Fermo, Elisa; Barcellini, Wilma; Stephens, David J.; van den Akker, Emile; Toye, Ashley M.

    2013-01-01

    Congenital dyserythropoietic anemia type II is an autosomally recessive form of hereditary anemia caused by SEC23B gene mutations. Patients exhibit characteristic phenotypes including multinucleate erythroblasts, erythrocytes with hypoglycosylated membrane proteins and an apparent double plasma membrane. Despite ubiquitous expression of SEC23B, the effects of mutations in this gene are confined to the erythroid lineage and the basis of this erythroid specificity remains to be defined. In addition, little is known regarding the stage at which the disparate phenotypes of this disease manifest during erythropoiesis. We employ an in vitro culture system to monitor the appearance of the defining phenotypes associated with congenital dyserythropoietic anemia type II during terminal differentiation of erythroblasts derived from small volumes of patient peripheral blood. Membrane protein hypoglycosylation was detected by the basophilic stage, preceding the onset of multinuclearity in orthochromatic erythroblasts that occurs coincident with the loss of secretory pathway proteins including SEC23A during erythropoiesis. Endoplasmic reticulum remnants were observed in nascent reticulocytes of both diseased and healthy donor cultures but were lost upon further maturation of normal reticulocytes, implicating a defect of ER clearance during reticulocyte maturation in congenital dyserythropoietic anemia type II. We also demonstrate distinct isoform and species-specific expression profiles of SEC23 during terminal erythroid differentiation and identify a prolonged expression of SEC23A in murine erythropoiesis compared to humans. We propose that SEC23A is able to compensate for the absence of SEC23B in mouse erythroblasts, providing a basis for the absence of phenotype within the erythroid lineage of a recently described SEC23B knockout mouse. PMID:23935019

  9. The role of recombinant human erythropoietin alpha in the treatment of chronic anemia in multiple myeloma.

    PubMed

    Dammacco, Franco; Luccarelli, Grazia; Prete, Marcella; Silvestris, Franco

    2002-01-01

    Chronic anemia of variable severity occurs in more than two-thirds of patients with multiple myeloma (MM) as a consequence of the B cell malignancy. Its pathogenesis is multifactorial. Besides the altered inflammatory cytokine network, other events are held responsible, namely persistent defect of erythropoietin due to the kidney failure, shortening of red cell survival, accumulation of the serum monoclonal component and platelet dysfunction. Our recent studies have demonstrated that excessive erythroblast apoptosis promoted by myeloma cells drives the appearance of anemia, in particular in patients with severely progressive disease. A number of clinical trials have provided evidence for the effectiveness of recombinant human erythropoietin (rHuEPO-alpha: epoetin alpha) in improving the deregulated erythropoiesis in MM, since it acts as a major erythroid growth factor by exerting a specific anti-apoptotic effect. In the majority of these studies, the long-term treatment of MM-associated anemia with rHuEPO-alpha induced a significant improvement of erythropoiesis, as shown by a stable increase of hemoglobin values (> or = 2g/dL) and reduction of transfusion requirements. In a recent trial which included both a double-blind and an open-label phase, we have documented that rHuEPO-alpha induces a stable improvement of anemia in more than 75% of patients and a significant decrease of fatigue, with an overall recovery of the quality of life. Patients receiving a placebo also achieved similar results in the open-label phase, when they were switched to rHuEPO-alpha. PMID:12735213

  10. The Prevalence of Anemia and Hemoglobinopathies in the Hematologic Clinics of the Kermanshah Province, Western Iran

    PubMed Central

    Payandeh, Mehrdad; Kansestani, Atefeh Nasir; Gohardehi, Farzad; Hashemian, Amir Hossein

    2014-01-01

    Hemoglobinopathies are the most common single gene disorders worldwide with a considerable frequency in certain area particularly Mediterranean and Middle Eastern countries. Hemoglobinopathies include structural variants of hemoglobin (Hb S, Hb C, HbE,…) and thalassaemias which are inherited defects in the globin chains synthesis. The present study was conducted to determine the prevalence of hemoglobinopathies in western Iranian patients. A total of 344 patients (151 males and 193 females) with abnormal CBC and/or hemoglobin electrophoresis were enrolled in the present study. Cellulose acetate gel electrophoresis was performed for all patients and abnormal bands were identified by citrate agar gel electrophoresis and PCR based methods. Iron deficiency anemia (IDA) was present in 156 (45.3%) individuals. Thirty four (9.8%) patients had both iron deficiency anemia and ?-thalassemia trait trait, 41(11.9%) patients were with both iron deficiency anemia and minor ?-thalassemia. There were 31(9%) patients with ?-thalassemia trait and 5 (2.2%) patients with Hb H disease. Fifty six (16.2%) patients had minor ?-thalassemia. Also, there were 10 (2.9%) individuals homozygous for hemoglobin D-Punjab and one patient with hemoglobin G (0.3%). There was one sample with hemoglobin C. Further, we found 3 patients (0.9%) with sickle cell trait and more 3 patients (0.8%) with S/ ? +–thalassemia. Our results indicated that the most frequent cause of hypochromic and/or microcytic anemia in our population was IDA and the minor ?-thalassemia was the second cause that needs to more attention in screening programs. PMID:24800037

  11. COEXISTENCE OF ADDISON'S DISEASE AND PERNICIOUS ANEMIA: IS THE NEW CLASSIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME APPROPRIATE?

    PubMed

    Vrkljan, Ana Marija; Pašali?, Ante; Strinovi?, Mateja; Peri?, Božidar; Kruljac, Ivan; Mirošev?, Gorana

    2015-06-01

    A case of autoimmune polyglandular syndrome (APS) is presented. A 45-year-old man was admitted due to fatigue, malaise and inappetence. He had a history of primary hypothyroidism and was on levothyroxine substitution therapy. One year before, he was diagnosed with normocytic anemia and vitamin B12 deficiency, which was treated with vitamin B12 substitution therapy. Physical examination revealed hypotension and marked hyperpigmentation. Laboratory testing showed hyponatremia, hyperkaliemia and severe normocytic anemia. Endocrinological evaluation disclosed low morning cortisol and increased adrenocorticotropic hormone levels. Hence, the diagnosis of Addison's disease was established. Additional laboratory workup showed positive parietal cell antibodies. However, his vitamin B12 levels were increased due to vitamin B12 supplementation therapy, which was initiated earlier. Gastroscopy and histopathology of gastric mucosa confirmed atrophic gastritis. Based on prior low serum vitamin B12 levels, positive parietal cell antibodies and atrophic gastritis, the patient was diagnosed with pernicious anemia. Hydrocortisone supplementation therapy was administered and titrated according to urinary-free cortisol levels. Electrolyte disbalance and red blood cell count were normalized. This case report demonstrates rather unique features of pernicious anemia in a patient with Addison's disease. It also highlights the link between type II and type III APS. Not only do they share the same etiological factors, but also overlap in pathophysiological and clinical characteristics. This case report favors older classification of APS, which consolidates all endocrine and other organ-specific autoimmune diseases into one category. This is important since it might help avoid pitfalls in the diagnosis and treatment of patients with APS. PMID:26415323

  12. Paroxysmal nocturnal hemoglobinuria and telomere length predicts response to immunosuppressive therapy in pediatric aplastic anemia

    PubMed Central

    Narita, Atsushi; Muramatsu, Hideki; Sekiya, Yuko; Okuno, Yusuke; Sakaguchi, Hirotoshi; Nishio, Nobuhiro; Yoshida, Nao; Wang, Xinan; Xu, Yinyan; Kawashima, Nozomu; Doisaki, Sayoko; Hama, Asahito; Takahashi, Yoshiyuki; Kudo, Kazuko; Moritake, Hiroshi; Kobayashi, Masao; Kobayashi, Ryoji; Ito, Etsuro; Yabe, Hiromasa; Ohga, Shouichi; Ohara, Akira; Kojima, Seiji

    2015-01-01

    Acquired aplastic anemia is an immune-mediated disease characterized by severe defects in stem cell number resulting in hypocellular marrow and peripheral blood cytopenias. Minor paroxysmal nocturnal hemoglobinuria populations and a short telomere length were identified as predictive biomarkers of immunosuppressive therapy responsiveness in aplastic anemia. We enrolled 113 aplastic anemia patients (63 boys and 50 girls) in this study to evaluate their response to immunosuppressive therapy. The paroxysmal nocturnal hemoglobinuria populations and telomere length were detected by flow cytometry. Forty-seven patients (42%) carried a minor paroxysmal nocturnal hemoglobinuria population. The median telomere length of aplastic anemia patients was ?0.99 standard deviation (SD) (range ?4.01–+3.01 SD). Overall, 60 patients (53%) responded to immunosuppressive therapy after six months. Multivariate logistic regression analysis identified the absence of a paroxysmal nocturnal hemoglobinuria population and a shorter telomere length as independent unfavorable predictors of immunosuppressive therapy response at six months. The cohort was stratified into a group of poor prognosis (paroxysmal nocturnal hemoglobinuria negative and shorter telomere length; 37 patients) and good prognosis (paroxysmal nocturnal hemoglobinuria positive and/or longer telomere length; 76 patients), respectively. The response rates of the poor prognosis and good prognosis groups at six months were 19% and 70%, respectively (P<0.001). The combined absence of a minor paroxysmal nocturnal hemoglobinuria population and a short telomere length is an efficient predictor of poor immunosuppressive therapy response, which should be considered while deciding treatment options: immunosuppressive therapy or first-line hematopoietic stem cell transplantation. The trial was registered in www.umin.ac.jp with number UMIN000017972. PMID:26315930

  13. Anemia resolved by thoracoscopic resection of a mediastinal mass: a case report of unicentric Castleman's disease.

    PubMed

    Suh, Jong Hui; Hong, Sook Hee; Jeong, Seong Cheol; Park, Chan Beom; Choi, Kuk Bin; Shin, Ok Ran; Choi, Si Young

    2015-07-01

    Castleman's disease (CD) is an uncommon benign lymphoproliferative disorder that usually presents as a single or multiple mediastinal mass. In unicentric CD, constitutional symptoms are rare, but are curable with surgical resection. However, serious intraoperative bleeding often requires conversion to thoracotomy. We present a case of unicentric CD in a 25-year-old woman with anemia, who was successfully treated by thoracoscopic resection. We describe the clinical course from the initial presentation to diagnosis and surgical cure. PMID:26380750

  14. Granulocyte transfusions in severe aplastic anemia: an eleven-year experience

    PubMed Central

    Quillen, Karen; Wong, Edward; Scheinberg, Phillip; Young, Neal S.; Walsh, Thomas J.; Wu, Colin O.; Leitman, Susan F.

    2009-01-01

    Background Infections, particularly those caused by invasive fungi, are a major cause of death in patients with severe aplastic anemia. The purpose of this study was to analyze our experience with granulocyte transfusions in such patients. Design and Methods A retrospective analysis was performed on all patients with severe aplastic anemia who had received granulocyte transfusions between 1997 and 2007 in our institute. Survival to hospital discharge was the primary outcome. Secondary outcomes included microbiological, radiographic and clinical responses of the infection at 7 and 30 days after initiating granulocyte therapy, and post-transfusion absolute neutrophil count, stratified by HLA alloimmunization status. Results Thirty-two patients with severe aplastic anemia underwent granulocyte transfusions; the majority had received horse antithymocyte globulin and cyclosporine A. One quarter of patients had demonstrable HLA alloimmunization prior to the initiation of granulocyte therapy. Infections were evenly divided between invasive bacterial and fungal infections unresponsive to maximal antibiotic and/or antifungal therapy. The median number of granulocyte components transfused was nine (range, 2–43). The overall survival to hospital discharge was 58%. Survival was strongly correlated with hematopoietic recovery. Among the 18 patients who had invasive fungal infections, 44% survived to hospital discharge. Response at 7 and 30 days correlated with survival. The mean post-transfusion absolute neutrophil count did not differ significantly between response groups (i.e. patients grouped according to whether they had complete or partial resolution of infection, stable disease or progressive infection). There was also no difference in mean post-transfusion absolute neutrophil count between the patients divided according to HLA alloimmunization status. Conclusions Granulocyte transfusions may have an adjunctive role in severe infections in patients with severe aplastic anemia. HLA alloimmunization is not an absolute contraindication to granulocyte therapy. PMID:19996117

  15. Paroxysmal nocturnal hemoglobinuria and telomere length predicts response to immunosuppressive therapy in pediatric aplastic anemia.

    PubMed

    Narita, Atsushi; Muramatsu, Hideki; Sekiya, Yuko; Okuno, Yusuke; Sakaguchi, Hirotoshi; Nishio, Nobuhiro; Yoshida, Nao; Wang, Xinan; Xu, Yinyan; Kawashima, Nozomu; Doisaki, Sayoko; Hama, Asahito; Takahashi, Yoshiyuki; Kudo, Kazuko; Moritake, Hiroshi; Kobayashi, Masao; Kobayashi, Ryoji; Ito, Etsuro; Yabe, Hiromasa; Ohga, Shouichi; Ohara, Akira; Kojima, Seiji

    2015-12-01

    Acquired aplastic anemia is an immune-mediated disease characterized by severe defects in stem cell number resulting in hypocellular marrow and peripheral blood cytopenias. Minor paroxysmal nocturnal hemoglobinuria populations and a short telomere length were identified as predictive biomarkers of immunosuppressive therapy responsiveness in aplastic anemia. We enrolled 113 aplastic anemia patients (63 boys and 50 girls) in this study to evaluate their response to immunosuppressive therapy. The paroxysmal nocturnal hemoglobinuria populations and telomere length were detected by flow cytometry. Forty-seven patients (42%) carried a minor paroxysmal nocturnal hemoglobinuria population. The median telomere length of aplastic anemia patients was -0.99 standard deviation (SD) (range -4.01-+3.01 SD). Overall, 60 patients (53%) responded to immunosuppressive therapy after six months. Multivariate logistic regression analysis identified the absence of a paroxysmal nocturnal hemoglobinuria population and a shorter telomere length as independent unfavorable predictors of immunosuppressive therapy response at six months. The cohort was stratified into a group of poor prognosis (paroxysmal nocturnal hemoglobinuria negative and shorter telomere length; 37 patients) and good prognosis (paroxysmal nocturnal hemoglobinuria positive and/or longer telomere length; 76 patients), respectively. The response rates of the poor prognosis and good prognosis groups at six months were 19% and 70%, respectively (P<0.001). The combined absence of a minor paroxysmal nocturnal hemoglobinuria population and a short telomere length is an efficient predictor of poor immunosuppressive therapy response, which should be considered while deciding treatment options: immunosuppressive therapy or first-line hematopoietic stem cell transplantation. The trial was registered in www.umin.ac.jp with number UMIN000017972. PMID:26315930

  16. Donor telomere length and survival after hematopoietic cell transplantation in patients with severe aplastic anemia

    Cancer.gov

    A new NCI study has found that, among patients with severe aplastic anemia (SAA) who received a hematopoietic cell transplant (HCT) from an unrelated donor, those whose donor white blood cells had longer telomeres had higher survival rates five-years after transplantation than those whose donor white blood cells had shorter telomeres. By contrast, the length of telomeres in a patient’s own white blood cells, as measured before transplantation, was not associated with survival.

  17. The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts

    PubMed Central

    Nikpour, Maryam; Pushkaran, Beena; Fidler, Carrie; Cattan, Helen; Littlewood, Tim J.; Malcovati, Luca; Della Porta, Matteo G.; Jädersten, Martin; Killick, Sally; Giagounidis, Aristoteles; Bowen, David; Hellström-Lindberg, Eva; Cazzola, Mario; Wainscoat, James S.

    2008-01-01

    Refractory Anemia with Ring Sideroblasts (RARS) is an acquired myelodysplastic syndrome (MDS) characterized by an excess iron accumulation in the mitochondria of erythroblasts. The pathogenesis of RARS and the cause of this unusual pattern of iron deposition remain unknown. We considered that the inherited X-linked sideroblastic anemia with ataxia (XLSA/A) might be informative for the acquired disorder, RARS. XLSA/A is caused by partial inactivating mutations of the ABCB7 ATP-binding cassette transporter gene, which functions to enable transport of iron from the mitochondria to the cytoplasm. Furthermore, ABCB7 gene silencing in HeLa cells causes an accumulation of iron in the mitochondria. We have studied the role of ABCB7 in RARS by DNA sequencing, methylation studies, and gene expression studies in primary CD34+ cells and in cultured erythroblasts. The DNA sequence of the ABCB7 gene is normal in patients with RARS. We have investigated ABCB7 gene expression levels in the CD34+ cells of 122 MDS cases, comprising 35 patients with refractory anemia (RA), 33 patients with RARS and 54 patients with RA with excess blasts (RAEB), and in the CD34+ cells of 16 healthy controls. We found that the expression levels of ABCB7 are significantly lower in the RARS group. RARS is thus characterized by lower levels of ABCB7 gene expression in comparison to other MDS subtypes. Moreover, we find a strong relationship between increasing percentage of bone marrow ring sideroblasts and decreasing ABCB7 gene expression levels. Erythroblast cell cultures confirm the low levels of ABCB7 gene expression levels in RARS. These data provide an important link between inherited and acquired forms of sideroblastic anemia and indicate that ABCB7 is a strong candidate gene for RARS. PMID:18398482

  18. `Untangling Sickle-cell Anemia and the Teaching of Heterozygote Protection'

    NASA Astrophysics Data System (ADS)

    Howe, Eric Michael

    2007-01-01

    Introductory biology textbooks often use the example of sickle-cell anemia to illustrate the concept of heterozygote protection. Ordinarily scientists expect the frequency of a gene associated with a debilitating illness would be low owing to its continual elimination by natural selection. The gene that causes sickle-cell anemia, however, has a relatively high frequency in many parts of the world. Historically, scientists proposed and defended several alternative theories to account for this anomaly, though it is now widely recognized among the scientific community that high frequencies of the gene reflect its benefit to heterozygotes against malaria. Textbooks normally develop this concept with reference to the often-used maps of Africa showing how in areas where the frequency of the sickle-cell gene is high, there is also higher exposure to the disease malaria. While sickle-cell anemia is often the example of choice for explaining and illustrating the concept of heterozygote protection, the present paper argues that exploring the history of scientific research behind our contemporary understanding has advantages for helping students understand multiple factors related to population genetics (e.g. mutation, gene flow, drift) in addition to heterozygote protection. In so doing, this approach invites students to evaluate the legitimacy of their own alternative conceptions about introductory population genetics or about the genetics of the disease sickle-cell anemia. The various historical theories scientists proposed and defended often resemble those of students who first learn about the disease. As such, a discussion of how scientists reached consensus about the role of heterozygote protection may help students understand and appreciate what are now recognized to be limitations in the views they bring to their classrooms. The paper concludes by discussing the ramifications of this approach in potentially helping students to examine certain aspects of the nature of science.

  19. Role of intravenous iron sucrose in correction of anemia in antenatal women with advanced pregnancy.

    PubMed

    Gupta, Avantika; Rathore, Asmita Muthal; Manaktala, Usha; Gupta, Ashutosh; Gupta, Sangeeta

    2015-06-01

    The aim of this study is to observe rise in haematological parameters after treatment with iron sucrose in antenatal patients with moderate anemia with period of gestation 32 to 35 weeks. The study included 45 antenatal patients with period of gestation from 32 to 35 weeks having iron deficiency anemia with haemoglobin levels 7-9 g% and serum ferritin levels less than 12 ng/mL. Intravenous iron sucrose was given in the dose of 200 mg on alternate days, according to the calculated dose. The mean haemoglobin and red blood cell indices were compared on days 7, 14, 21, 28 and at the time of delivery from the baseline value. There was a statistically significant rise in haemoglobin value from baseline on days 14, 21, 28 as well as at the time of delivery (p value <0.0001). The mean rise in haemoglobin values was 0.56 g% on day 14, 1.44 g% on day 21 and 2.0 g% on day 28. At the time of delivery, mean haemoglobin was 11.24 g%. After 28 days of treatment, there was a statistically significant rise in the levels of serum ferritin from 10.33 ± 3.8 ng/mL to 36.89 ± 5.7 ng/mL. Thus, earlier response achieved by iron sucrose can be utilised in the patients presenting at an advanced period of gestation with iron deficiency anemia. PMID:25825567

  20. An Instantaneous Low-Cost Point-of-Care Anemia Detection Device

    PubMed Central

    Punter-Villagrasa, Jaime; Cid, Joan; Páez-Avilés, Cristina; Rodríguez-Villarreal, Ivón; Juanola-Feliu, Esteve; Colomer-Farrarons, Jordi; Miribel-Català, Pere Ll.

    2015-01-01

    We present a small, compact and portable device for point-of-care instantaneous early detection of anemia. The method used is based on direct hematocrit measurement from whole blood samples by means of impedance analysis. This device consists of a custom electronic instrumentation and a plug-and-play disposable sensor. The designed electronics rely on straightforward standards for low power consumption, resulting in a robust and low consumption device making it completely mobile with a long battery life. Another approach could be powering the system based on other solutions like indoor solar cells, or applying energy-harvesting solutions in order to remove the batteries. The sensing system is based on a disposable low-cost label-free three gold electrode commercial sensor for 50 ?L blood samples. The device capability for anemia detection has been validated through 24 blood samples, obtained from four hospitalized patients at Hospital Clínic. As a result, the response, effectiveness and robustness of the portable point-of-care device to detect anemia has been proved with an accuracy error of 2.83% and a mean coefficient of variation of 2.57% without any particular case above 5%. PMID:25690552

  1. Identification of novel target genes involved in Indian Fanconi anemia patients using microarray.

    PubMed

    Shyamsunder, Pavithra; Ganesh, Kripa S; Vidyasekar, Prasanna; Mohan, Sheila; Verma, Rama Shanker

    2013-12-01

    Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure and a predisposition to cancers. Mutations have been documented in 15 FA genes that participate in the FA-BRCA DNA repair pathway, a fundamental pathway in the development of the disease and the presentation of its characteristic symptoms. Certain symptoms such as oxygen sensitivity, hematological abnormalities and impaired immunity suggest that FA proteins could participate in or independently control other pathways as well. In this study, we identified 9 DNA repair genes that were down regulated in a genome wide analysis of 6 Indian Fanconi anemia patients. Functional clustering of a total of 233 dysregulated genes identified key biological processes that included regulation of transcription, DNA repair, cell cycle and chromosomal organization. Microarray data revealed the down regulation of ATXN3, ARID4A and ETS-1, which were validated by RTPCR in a subsequent sample set of 9 Indian FA patients. Here we report for the first time a gene expression profile of Fanconi anemia patients from the Indian population and a pool of genes that might aid in the acquisition and progression of the FA phenotype. PMID:24036430

  2. An instantaneous low-cost point-of-care anemia detection device.

    PubMed

    Punter-Villagrasa, Jaime; Cid, Joan; Páez-Avilés, Cristina; Rodríguez-Villarreal, Ivón; Juanola-Feliu, Esteve; Colomer-Farrarons, Jordi; Miribel-Català, Pere Ll

    2015-01-01

    We present a small, compact and portable device for point-of-care instantaneous early detection of anemia. The method used is based on direct hematocrit measurement from whole blood samples by means of impedance analysis. This device consists of a custom electronic instrumentation and a plug-and-play disposable sensor. The designed electronics rely on straightforward standards for low power consumption, resulting in a robust and low consumption device making it completely mobile with a long battery life. Another approach could be powering the system based on other solutions like indoor solar cells, or applying energy-harvesting solutions in order to remove the batteries. The sensing system is based on a disposable low-cost label-free three gold electrode commercial sensor for 50 µL blood samples. The device capability for anemia detection has been validated through 24 blood samples, obtained from four hospitalized patients at Hospital Clínic. As a result, the response, effectiveness and robustness of the portable point-of-care device to detect anemia has been proved with an accuracy error of 2.83% and a mean coefficient of variation of 2.57% without any particular case above 5%. PMID:25690552

  3. [Complementary treatment of acute heart failure in patients with diabetes, chronic obstructive pulmonary disease or anemia].

    PubMed

    Carrasco Sánchez, Francisco Javier; Recio Iglesias, Jesús; Grau Amorós, Jordi

    2014-03-01

    Diabetes, chronic obstructive pulmonary disease (COPD) and anemia are comorbidities with a high prevalence and impact in heart failure (HF). The presence of these comorbidities considerably worsens the prognosis of HF. Diabetic patients have a higher likelihood of developing symptoms of HF and both the treatment of diabetes and that of acute HF are altered by the coexistence of both entities. The glycemic targets in patients with acute HF are not well-defined, but could show a U-shaped relationship. Stress hyperglycemia in non-diabetic patients with HF could also have a deleterious effect on the medium-term prognosis. The inter-relationship between COPD and HF hampers diagnosis due to the overlap between the symptoms and signs of both entities and complementary investigations. The treatment of acute HF is also altered by the presence of COPD. Anemia is highly prevalent and is often the direct cause of decompensated HF, the most common cause being iron deficiency anemia. Iron replacement therapy, specifically intravenous forms, has helped to improve the prognosis of acute HF. PMID:24930086

  4. Thrombotic thrombocytopenic purpura and other thrombotic microangiopathic hemolytic anemias: diagnosis and classification.

    PubMed

    Shenkman, Boris; Einav, Yulia

    2014-01-01

    Thrombotic microangiopathies (TMAs) include several diseases, most prominently are thrombotic thrombocytopenic purpura (TTP) and hemolytic-uremic syndrome (HUS). TMAs are characterized by profound thrombocytopenia, microangiopathic hemolytic anemia and organ ischemia. In most cases TTP results from deficiency of ADAMTS13, the von Willebrand factor-cleaving protease leading to increase of ultra-large von Willebrand factor (ULVWF) multimers. Congenital TTP is due to mutations in the gene of ADAMTS13 whereas acquired TTP is due to production of autoantibodies against ADAMTS13. In both cases severe deficiency of ADAMTS13 exists. However, the presence of ADAMTS13 activity does not rule out TTP. Diagnostic criteria of TTP are based on clinical features of neurologic and renal disfunction along with anemia and thrombocytopenia, low ADAMTS13 activity, and the presence of ULVWF. The standard treatment of TTP includes plasma exchange, protein A immunoabsobtion, immunosuppressive drugs, CD20 antibodies against B cells, and splenectomy. HUS is commonly caused by infection with Shiga-toxin produced by Escherichia coli. HUS is characterized by thrombocytopenia, anemia, renal impairment and diarrhea. Rarely, atypical HUS appears as a consequence of mutations related to the alternative pathway for the compliment system. Plasmapheresis in HUS is not efficient. Alternatively, plasma therapy and in some cases dialysis are used. TMA diseases may be associated with other infections, bone marrow transplantation, pregnancy, systemic vasculitis, and certain drugs. PMID:24418304

  5. Partial Loss of Rpl11 in Adult Mice Recapitulates Diamond-Blackfan Anemia and Promotes Lymphomagenesis.

    PubMed

    Morgado-Palacin, Lucia; Varetti, Gianluca; Llanos, Susana; Gómez-López, Gonzalo; Martinez, Dolores; Serrano, Manuel

    2015-10-27

    Diamond-Blackfan anemia (DBA) is characterized by anemia and cancer susceptibility and is caused by mutations in ribosomal genes, including RPL11. Here, we report that Rpl11-heterozygous mouse embryos are not viable and that Rpl11 homozygous deletion in adult mice results in death within a few weeks, accompanied by bone marrow aplasia and intestinal atrophy. Importantly, Rpl11 heterozygous deletion in adult mice results in anemia associated with decreased erythroid progenitors and defective erythroid maturation. These defects are also present in mice transplanted with inducible heterozygous Rpl11 bone marrow and, therefore, are intrinsic to the hematopoietic system. Additionally, heterozygous Rpl11 mice present increased susceptibility to radiation-induced lymphomagenesis. In this regard, total or partial deletion of Rpl11 compromises p53 activation upon ribosomal stress or DNA damage in fibroblasts. Moreover, fibroblasts and hematopoietic tissues from heterozygous Rpl11 mice present higher basal cMYC levels. We conclude that Rpl11-deficient mice recapitulate DBA disorder, including cancer predisposition. PMID:26489471

  6. Resistance to Recombinant Human Erythropoietin Therapy in a Rat Model of Chronic Kidney Disease Associated Anemia.

    PubMed

    Garrido, Patrícia; Ribeiro, Sandra; Fernandes, João; Vala, Helena; Rocha-Pereira, Petronila; Bronze-da-Rocha, Elsa; Belo, Luís; Costa, Elísio; Santos-Silva, Alice; Reis, Flávio

    2015-01-01

    This study aimed to elucidate the mechanisms explaining the persistence of anemia and resistance to recombinant human erythropoietin (rHuEPO) therapy in a rat model of chronic kidney disease (CKD)-associated anemia with formation of anti-rHuEPO antibodies. The remnant kidney rat model of CKD induced by 5/6 nephrectomy was used to test a long-term (nine weeks) high dose of rHuEPO (200 UI/kg bw/week) treatment. Hematological and biochemical parameters were evaluated as well as serum and tissue (kidney, liver and/or duodenum) protein and/or gene expression of mediators of erythropoiesis, iron metabolism and tissue hypoxia, inflammation, and fibrosis. Long-term treatment with a high rHuEPO dose is associated with development of resistance to therapy as a result of antibodies formation. In this condition, serum EPO levels are not deficient and iron availability is recovered by increased duodenal absorption. However, erythropoiesis is not stimulated, and the resistance to endogenous EPO effect and to rHuEPO therapy results from the development of a hypoxic, inflammatory and fibrotic milieu in the kidney tissue. This study provides new insights that could be important to ameliorate the current therapeutic strategies used to treat patients with CKD-associated anemia, in particular those that become resistant to rHuEPO therapy. PMID:26712750

  7. Dysfunction of fibroblasts of extrarenal origin underlies renal fibrosis and renal anemia in mice

    PubMed Central

    Asada, Nariaki; Takase, Masayuki; Nakamura, Jin; Oguchi, Akiko; Asada, Misako; Suzuki, Norio; Yamamura, Ken-ichi; Nagoshi, Narihito; Shibata, Shinsuke; Rao, Tata Nageswara; Fehling, Hans Joerg; Fukatsu, Atsushi; Minegishi, Naoko; Kita, Toru; Kimura, Takeshi; Okano, Hideyuki; Yamamoto, Masayuki; Yanagita, Motoko

    2011-01-01

    In chronic kidney disease, fibroblast dysfunction causes renal fibrosis and renal anemia. Renal fibrosis is mediated by the accumulation of myofibroblasts, whereas renal anemia is mediated by the reduced production of fibroblast-derived erythropoietin, a hormone that stimulates erythropoiesis. Despite their importance in chronic kidney disease, the origin and regulatory mechanism of fibroblasts remain unclear. Here, we have demonstrated that the majority of erythropoietin-producing fibroblasts in the healthy kidney originate from myelin protein zero–Cre (P0-Cre) lineage-labeled extrarenal cells, which enter the embryonic kidney at E13.5. In the diseased kidney, P0-Cre lineage-labeled fibroblasts, but not fibroblasts derived from injured tubular epithelial cells through epithelial-mesenchymal transition, transdifferentiated into myofibroblasts and predominantly contributed to fibrosis, with concomitant loss of erythropoietin production. We further demonstrated that attenuated erythropoietin production in transdifferentiated myofibroblasts was restored by the administration of neuroprotective agents, such as dexamethasone and neurotrophins. Moreover, the in vivo administration of tamoxifen, a selective estrogen receptor modulator, restored attenuated erythropoietin production as well as fibrosis in a mouse model of kidney fibrosis. These findings reveal the pathophysiological roles of P0-Cre lineage-labeled fibroblasts in the kidney and clarify the link between renal fibrosis and renal anemia. PMID:21911936

  8. An Outbreak of Heinz Body Positive Hemolytic Anemia in Chronic Hemodialysis Patients1

    PubMed Central

    Pyo, Heui-Jung; Kwon, Young Joo; Wee, Kyoung So; Kwon, So Young; Lee, Chang Hong; Kim, Suhnggwon; Lee, Jung Sang; Cho, Soo-Hun; Cha, Chul Whan

    1993-01-01

    During the four month period, from December 1988 to March 1989, there was an outbreak of Heinz body positive hemolytic anemia in 34 patients undergoing hemodialysis in a 500-bed hospital, Seoul, Korea. The episodes of hemolysis were not reduced by changing the charcoal column and reverse osmosis system, or by adding ascorbic acid to the dialysate. The concentrations of nitrate, copper, aluminum and zinc in the treated water were all within the standards for hemodialysis. The chloramine concentration of the treated water was over 0.6 mg/L, markedly exceeding the allowable level of 0.1 mg/L. This high level of chloramine was proved to be due to the contamination of the water source by raw sewage. After we changed the source of water supply to another, no more episodes of hemolytic anemia occurred. It is concluded that chloramine is one of the major contaminants causing dialysis-induced hemolytic anemia and regular determinations are necessary, especially during winter and dry seasons. PMID:8031729

  9. The influence of hydroxyurea on oxidative stress in sickle cell anemia

    PubMed Central

    Torres, Lidiane de Souza; da Silva, Danilo Grünig Humberto; Belini Junior, Edis; de Almeida, Eduardo Alves; Lobo, Clarisse Lopes de Castro; Cançado, Rodolfo Delfini; Ruiz, Milton Artur; Bonini-Domingos, Claudia Regina

    2012-01-01

    Objective The oxidative stress in 20 sickle cell anemia patients taking hydroxyurea and 13 sickle cell anemia patients who did not take hydroxyurea was compared with a control group of 96 individuals without any hemoglobinopathy. Methods Oxidative stress was assessed by thiobarbituric acid reactive species production, the Trolox-equivalent antioxidant capacity and plasma glutathione levels. Results Thiobarbituric acid reactive species values were higher in patients without specific medication, followed by patients taking hydroxyurea and the Control Group (p < 0.0001). The antioxidant capacity was higher in patients taking hydroxyurea and lower in the Control Group (p = 0.0002 for Trolox-equivalent antioxidant capacity and p < 0.0292 for plasma glutathione). Thiobarbituric acid reactive species levels were correlated with higher hemoglobin S levels (r = 0.55; p = 0.0040) and lower hemoglobin F concentrations(r = -0.52; p = 0.0067). On the other hand, plasma glutathione levels were negatively correlated with hemoglobin S levels (r = -0.49; p = 0.0111) and positively associated with hemoglobin F values (r = 0.56; p = 0.0031). Conclusion Sickle cell anemia patients have high oxidative stress and, conversely, increased antioxidant activity. The increase in hemoglobin F levels provided by hydroxyurea and its antioxidant action may explain the reduction in lipid peroxidation and increased antioxidant defenses in these individuals. PMID:23323065

  10. [Infantile pyknocytosis: A cause of noenatal hemolytic anemia. Is recombinant erythropoietin an alternative to transfusion?].

    PubMed

    Bagou, M; Rolland, E; Gay, C; Patural, H

    2016-01-01

    Infantile pyknocytosis is a neonatal hemolytic disorder which causes anemia and icterus and is characterized by the presence of an increased number of distorted red blood cells called pyknocytes. Resolution spontaneously occurs in the first semester of life. It has been generally described as a rare entity, with an occasional family history. We report seven cases of infantile pyknocytosis observed in our hospital in 3years. Most of the infants presented with hemolytic icterus and profound anemia that was reaching its peak by the 3rd week of life. Three neonates received one to three red blood cell transfusions, according to former recommendations. However, the following four received a treatment with recombinant erythropoietin administered subcutaneously. Only one of these four cases required a transfusion. All of them were free of hematological disease 2-3months after completion of treatment. Infantile pyknocytosis is a recognized cause of neonatal hemolytic anemia, which requires careful examination of red cell morphology on a peripheral blood smear. The cause of this transient disorder remains unknown. Our observations show that recombinant erythropoietin therapy is effective in treating infantile pyknocytosis and increases the reticulocyte response, thus improving the hemoglobin level. PMID:26563723

  11. Hemolytic anemia in two patients with glioblastoma multiforme: A possible interaction between vorinostat and dapsone.

    PubMed

    Lewis, Jennifer A; Petty, William J; Harmon, Michele; Peacock, James E; Valente, Kari; Owen, John; Pirmohamed, Munir; Lesser, Glenn J

    2015-06-01

    Patients undergoing treatment for glioblastoma multiforme are routinely placed on prophylactic treatment for Pneumocystis jirovecii pneumonia because of significant therapy-induced lymphopenia. In patients with sulfa allergies, dapsone prophylaxis is often used due to its efficacy, long half-life, cost effectiveness, and general safety at low doses. However, dapsone may uncommonly induce a hemolytic anemia, particularly in patients deficient of glucose-6-phosphate dehydrogenase. This hemolysis is thought to be a result of oxidative stress on red blood cells induced by dapsone metabolites which produce reactive oxygen species that disrupt the red blood cell membrane and promote splenic sequestration. A single case report of dapsone-induced hemolytic anemia in a patient with glioblastoma multiforme has been reported. We present two patients with glioblastoma multiforme who developed severe hemolytic anemia shortly after initiating therapy with vorinostat, a pan-active histone deacetylase inhibitor, while on prophylactic dapsone. There are several potential mechanisms by which histone deacetylase inhibition may alter dapsone metabolism including changes in hepatic acetylation or N-glucuronidation leading to an increase in the bioavailability of dapsone's hematotoxic metabolites. In addition, vorinostat may lead to increased hemolysis through inhibition of heat shock protein-90, a chaperone protein that maintains the integrity of the red blood cell membrane cytoskeleton. The potential interaction between dapsone and vorinostat may have important clinical implications as more than 10 clinical trials evaluating drug combinations with vorinostat in patients with malignant glioma are either ongoing or planned in North America. PMID:24576944

  12. Nonarteritic anterior ischemic optic neuropathy associated with chronic anemia: a case series of myelodysplastic syndrome patients

    PubMed Central

    Brouzas, Dimitrios; Charakidas, Antonios; Ladas, Ioannis; Apostolopoulos, Michael

    2009-01-01

    Introduction: We report on three cases of visual loss due to nonarteritic anterior ischemic optic neuropathy that developed during the course of refractory anemia, a subtype of myelodysplastic syndrome. Patients and methods: Patients underwent fundus, visual field examination, and fluorescein angiography. A thrombophilic tendency investigation including prothrombin time, partial thromboplastin time, protein C, free protein S, and antithrombin III, polymerase chain reaction and hybridisation to allele-specific oligonucleotide probes and a bone marrow biopsy were also performed. Results: Relative recovery of visual function was noted in two patients, a 58-year-old man and a 67-year-old woman, whereas the vision of the third patient, a 62-year-old man, showed only marginal improvement during the follow-up period. Two patients received vigorous blood transfusion during hospitalization, while dosage adjustment of the erythropoietin infusion was decided for the third one. Thrombophilic tendency was not identified in any patient. Discussion: Chronic anemia, as presented in myelodysplastic syndrome’s refractory anemia subtype, probably in the presence of additional factors, such as hypotension, is likely to be complicated by optic neuropathy, possibly through a mechanism of anemic hypoxia and/or microvascular insufficiency. PMID:19668557

  13. [The serum and intraerythrocyte concentration of ferritin in the anemia of rheumatoid arthritis].

    PubMed

    Camacho, J; Arnalich, F; Zamorano, A F; Larrocha, C; Pérez de Ayala, C; Vázquez, J J

    1990-11-10

    Serum concentration of ferritin (Ft) and its glycosylated fraction (Ft-Gl) and intraerythrocytic ferritin (Ft-e) concentration were measured in 26 patients with anemia and active rheumatoid arthritis. Patients were divided into 2 groups according to the presence of anemia of chronic diseases (n = 13) or associated ferropenia. Unlike the first group, patients with associated ferropenia had lower concentration of the above parameters than 31 control subjects. The logarithmic value of FT (log FT) directly correlated with globular sedimentation velocity. Ft-Gl and log Ft-e correlated with transferrin saturation (r = 0.603, p less than 0.01 and r = 0.444, p less than 0.05). Log Ft-e also correlated with Ft (r = 0.504, p less than 0.01). The probability of ferropenia when Ft was 60 micrograms/l or lower was 0.91, and when Ft-e was 1.5 ag/cel or lower was 0.66. It is concluded that the ferropenic status in active rheumatoid anemia decreases the iron dependent synthesis of ferritin (Ft-Gl) more than that mediated by the acute phase response. The intraerythrocytic content is low due to the scanty iron supply to the erythroblast. Ft is more efficacious than Ft-e in the diagnosis of ferropenia. PMID:2097451

  14. Prevalence of Mycoplasma haemofelis, 'Candidatus Mycoplasma haemominutum', Bartonella species, Ehrlichia species, and Anaplasma phagocytophilum DNA in the blood of cats with anemia.

    PubMed

    Ishak, Anthony M; Radecki, Steve; Lappin, Michael R

    2007-02-01

    Hemoplasmas are known causes of anemia in some cats and some Bartonella species have been associated with anemia in people and in dogs. In this retrospective study, we used polymerase chain reaction (PCR) assays to determine the prevalence rates of Mycoplasma haemofelis, 'Candidatus M haemominutum', A phagocytophilum, Ehrlichia species, and Bartonella species DNA in the blood of cats with anemia and a control group of healthy cats. DNA of the organisms was amplified from 22 of 89 cats with anemia (24.7%) and 20 of 87 healthy cats (23.0%). DNA of a hemoplasma was amplified from 18 of 89 cats with anemia (20.2%) and 13 of 87 healthy cats (14.9%); DNA of a Bartonella species was amplified from five of 89 cats with anemia (5.6%) and seven of 87 healthy cats (8.0%). There were no statistically significant differences detected between groups. PMID:16846745

  15. Hematopoietic Acute Radiation Syndrome (Bone marrow syndrome, Aplastic Anemia): Molecular Mechanisms of Radiation Toxicity.

    NASA Astrophysics Data System (ADS)

    Popov, Dmitri

    Key Words: Aplastic Anemia (AA), Pluripotential Stem Cells (PSC) Introduction: Aplastic Anemia (AA) is a disorder of the pluripotential stem cells involve a decrease in the number of cells of myeloid, erythroid and megakaryotic lineage [Segel et al. 2000 ]. The etiology of AA include idiopathic cases and secondary aplastic anemia after exposure to drugs, toxins, chemicals, viral infections, lympho-proliferative diseases, radiation, genetic causes, myelodisplastic syndromes and hypoplastic anemias, thymomas, lymphomas. [Brodskyet al. 2005.,Modan et al. 1975., Szklo et al. 1975]. Hematopoietic Acute Radiation Syndrome (or Bone marrow syndrome, or Radiation-Acquired Aplastic Anemia) is the acute toxic syndrome which usually occurs with a dose of irradiation between 0.7 and 10 Gy (70- 1000 rads), depending on the species irradiated. [Waselenko et al., 2004]. The etiology of bone morrow damage from high-level radiation exposure results depends on the radiosensitivity of certain bone marrow cell lines. [Waselenko et al. 2004] Aplastic anemia after radiation exposure is a clinical syndrome that results from a marked disorder of bone marrow blood cell production. [Waselenko et al. 2004] Radiation hematotoxicity is mediated via genotoxic and other specific toxic mechanisms, leading to aplasia, cell apoptosis or necrosis, initiation via genetic mechanisms of clonal disorders, in cases such as the acute radiation-acquired form of AA. AA results from radiation injury to pluripotential and multipotential stem cells in the bone marrow. The clinical signs displayed in reticulocytopenia, anemia, granulocytopenia, monocytopenia, and thrombocytopenia. The number of marrow CD34+ cells (multipotential hematopoietic progenitors) and their derivative colony-forming unit{granulocyte-macrophage (CFU-GM) and burst forming unit {erythroid (BFU{E) are reduced markedly in patients with AA. [Guinan 2011, Brodski et al. 2005, Beutler et al.,2000] Cells expressing CD34 (CD34+ cell) are normally found in the umbilical cord and bone marrow as hematopoietic cells, a subset of mesenchymal stem cells, endothelial progenitor cells, endothelial cells of blood vessels, etc. [Beutler et al. 2000 ] Potential mechanisms responsible for radiation-acquired marrow cell failure include direct toxicity , direct damage of hematopoietic multipotential cells or cellular or humoral immune suppression of the marrow multipotential cells. [ Beutler et al. 2000] Methods: These studies were conducted at several different research institutions and laboratories listed as follows: Kazan All-Union Scientific Research Veterinary, Biotechnology Centre of Russian Academy of Science (North Osetia), Institute Belarussian Scientific and Research Institute for Radiobiology in Gomel, the St. Petersburg Veterinary Institute, the Advanced Medical Technology and Systems Inc., Ontario, Canada. The studies were approved by the Animal Care and Use Committee for ethical animal research equivalent, at each institution. A critically important volume of purified Radiation Toxins (RT) was isolated from larger mammalian irradiated animals. Subsequently the RT were characterized chemically and biologically. The experimental design of later studies compared relative toxicity, potential for development of acute radiation hematopoietic syndrome, and potential cloning disorder of multipotential hematopoietic progenitors and their derivative and lethality after intravenous or intramuscular injections of SRD containing Hematopoietic Radiation Toxins. These experiments have employed a wide variety of experimental animals. The animals were irradiated in RUM-17, Puma, and Panorama devices. The dose varied from 0.7Gy to 100Gy. The methods of immune depletion, immuno-lympho plasmasabsorption, as well as direct extraction, were used to refine and purify the specific Radiation Toxins from the central lymph of animals with Hematopoietic forms of Radiation Toxins. Experiments include administration of Hematopoietic Radiation Toxins (SRD-4) to radiation naive animals in doses 0.1 mg/kg; 0,5 mg/kg; 1 mg/kg; 2 mg/kg;

  16. Inborn anemias in mice. Comprehensive progress report, 1 August 1979-1 June 1982, to accompany twenty-seventh renewal proposal

    SciTech Connect

    Bernstein, S.E.; Russell, E.S.; Barker, J.E.

    1982-07-01

    Hereditary anemias of mice have been investigated including four macrocytic anemias, three hemolytic anemias, nonhemolytic microcytic anemia, transitory siderocytic anemia, sex-linked iron-transport anemia, an ..cap alpha..-thalassemia, and a new target-cell anemia. Each of these blood dyscrasias is caused by the action of a unique mutant gene, which determines the structure of different intracellular molecules controlling a different metabolic process. Thus the wide range of different hereditary anemias has considerable potential for uncovering many different aspects of hemopoietic homeostatic mechanisms in the mouse and by extension to man from an understanding of mammalian mechanisms utilized in the control of erythropoiesis. Each of the different anemias is studied through: (a) biochemical and biophysical characterization of peripheral blood cells; (b) determinations of cellular and organismic radiosensitivity under a variety of conditions; (c) measurements of iron metabolism and heme biosynthesis; (d) morphological and biochemical study of blood-forming tissue; (e) functional tests of the stem cell component; (f) examination of responses to erythroid stimuli and inhibitors; and (g) physiological complementation analysis via transplantation of tissue between individuals of differently affected genotypes.

  17. Incidence of persistent/late chronic anemia in newly diagnosed patients with chronic myeloid leukemia responsive to imatinib.

    PubMed

    Latagliata, Roberto; Volpicelli, Paola; Breccia, Massimo; Vozella, Federico; Romano, Angela; Montagna, Chiara; Molica, Matteo; Finsinger, Paola; Carmosino, Ida; Serrao, Alessandra; Zacheo, Irene; Santopietro, Michelina; Salaroli, Adriano; Alimena, Giuliana

    2015-02-01

    In patients with chronic myeloid leukemia (CML) responsive to imatinib, it is still unknown whether the long-lasting treatment could induce the appearance of a persistent/late chronic anemia. To highlight this issue, we revised 128 patients with CML (M/F 64/64, median age at diagnosis 56.9 years, interquartile range 43.0-69.3) treated at our Institution with 1st line imatinib for at least 36 months and in stable complete cytogenetic response. At the 36th month of imatinib, a chronic anemia (Hb??6 months) was present in 38/128 patients (29.6%): the anemia was moderate (Hb?>?8???10 g/dl) in 12 patients (9.3%) and mild (Hb?>?10?anemia had a low reticulocyte count and 8/38 a condition of iron deficiency without clinical and instrumental signs of chronic blood loss. Four out of 38 patients (10.5%) needed red cell transfusions during the follow-up. At a landmark analysis from the 36th month of imatinib treatment, cumulative 4-year overall survival (OS) for patients with chronic anemia was 94.4% (CI 95% 83.8-100) compared to 93.5% (CI 95% 87.2-99.8) for patients without chronic anemia (P?=?0.617). In conclusion, the occurrence of a late chronic anemia during long-lasting treatment with imatinib has been observed in about 30% of our responsive patients: its occurrence does not seem to affect OS, but its real impact should be evaluated on a larger cohort of patients. PMID:25349084

  18. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

    PubMed Central

    Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Brusco, Alfredo; Calabrese, Roberto; Dufour, Carlo; Longoni, Daniela; Misuraca, Aldo; Vinti, Luciana; Aspesi, Anna; Biondini, Laura; Loreni, Fabrizio; Dianzani, Irma; Ramenghi, Ugo

    2010-01-01

    Background Diamond-Blackfan anemia is a rare, pure red blood cell aplasia of childhood due to an intrinsic defect in erythropoietic progenitors. About 40% of patients display various malformations. Anemia is corrected by steroid treatment in more than 50% of cases; non-responders need chronic transfusions or stem cell transplantation. Defects in the RPS19 gene, encoding the ribosomal protein S19, are the main known cause of Diamond-Blackfan anemia and account for more than 25% of cases. Mutations in RPS24, RPS17, and RPL35A described in a minority of patients show that Diamond-Blackfan anemia is a disorder of ribosome biogenesis. Two new genes (RPL5, RPL11), encoding for ribosomal proteins of the large subunit, have been reported to be involved in a considerable percentage of patients. Design and Methods In this genotype-phenotype analysis we screened the coding sequence and intron-exon boundaries of RPS14, RPS16, RPS24, RPL5, RPL11, and RPL35A in 92 Italian patients with Diamond-Blackfan anemia who were negative for RPS19 mutations. Results About 20% of the patients screened had mutations in RPL5 or RPL11, and only 1.6% in RPS24. All but three mutations that we report here are new mutations. No mutations were found in RPS14, RPS16, or RPL35A. Remarkably, we observed a higher percentage of somatic malformations in patients with RPL5 and RPL11 mutations. A close association was evident between RPL5 mutations and craniofacial malformations, and between hand malformations and RPL11 mutations. Conclusions Mutations in four ribosomal proteins account for around 50% of all cases of Diamond-Blackfan anemia in Italian patients. Genotype-phenotype data suggest that mutation screening should begin with RPL5 and RPL11 in patients with Diamond-Blackfan anemia with malformations. PMID:19773262

  19. RELATIONSHIP BETWEEN INFLAMMATORY MEDIATOR PATTERNS AND ANEMIA IN HIV-1 POSITIVE AND EXPOSED CHILDREN WITH PLASMODIUM FALCIPARUM MALARIA

    PubMed Central

    DAVENPORT, Gregory C.; HITTNER, James B.; WERE, Tom; ONG'ECHA, John M.; PERKINS, Douglas J.

    2015-01-01

    Anemia is the primary hematological manifestation of both Plasmodium falciparum malaria and HIV-1 in pediatric populations in sub-Saharan Africa. We have previously shown that HIV-1 positive and exposed children have greater risk of developing severe anemia (hemoglobin, Hb<6.0 g/dL) during acute malaria. However, enhanced severity of anemia was unrelated to either erythropoietic suppression or parasite-driven red blood cell hemolysis. To further explore mechanisms of anemia, circulating inflammatory mediators (IMs) were determined using a 25-plex bead array in P. falciparum-infected (Pf[+]) children (3-36 mos., n=194) stratified into three groups: HIV-1 negative (HIV-1[?]/Pf[+]); HIV-1 exposed (HIV-1[exp]/Pf[+]); and HIV-1 infected (HIV-1[+]/Pf[+]). IL-12, MIG/CXCL9, eotaxin/CCL11, and GM-CSF differed significantly and progressively increased across the groups (HIV-1[?]?HIV-1[exp]?HIV-1[+]). To further explore the relationship between the inflammatory milieu (i.e., cytokines, chemokines, and growth factors) and HIV-1 status, the large panel of IMs was reduced into discrete groups by principal component factor analysis. Of the six principal components that emerged, three components were significantly higher in the HIV-1 positive and exposed groups, demonstrating that inflammatory profiles differ according to HIV-1 status. Additional analyses exploring the relationship between the components and anemia revealed significant positive correlations between Hb and component 3 (IL-1Ra, IL-7, IL-17, IFN-?, IFN-?, MIG/CXCL9) in the (HIV-1[?]/Pf[+]) group, and component 4 (IL-4, IL-5, IL-12, Eotaxin/CCL11) in HIV-1[+]/Pf[+] children. Further analyses of the HIV-1[+]/Pf[+] group revealed that IL-12 had the strongest association with anemia. Results presented here demonstrate that there are unique relationships between the inflammatory environment and anemia in HIV-1 positive and exposed children with malaria. PMID:22570198

  20. Relationship between inflammatory mediator patterns and anemia in HIV-1 positive and exposed children with Plasmodium falciparum malaria.

    PubMed

    Davenport, Gregory C; Hittner, James B; Were, Tom; Ong'echa, John M; Perkins, Douglas J

    2012-07-01

    Anemia is the primary hematological manifestation of both Plasmodium falciparum malaria and HIV-1 in pediatric populations in sub-Saharan Africa. We have previously shown that HIV-1 positive and exposed children have greater risk of developing severe anemia (hemoglobin, Hb <6.0 g dL?¹) during acute malaria. However, enhanced severity of anemia was unrelated to either erythropoietic suppression or parasite-driven red blood cell hemolysis. To further explore mechanisms of anemia, circulating inflammatory mediators (IMs) were determined using a 25-plex bead array in P. falciparum-infected (Pf[+]) children (3-36 month, n = 194) stratified into three groups: HIV-1 negative (HIV-1[-]/Pf[+]); HIV-1 exposed (HIV-1[exp]/Pf[+]); and HIV-1 infected (HIV-1[+]/Pf[+]). IL-12, MIG/CXCL9, eotaxin/CCL11, and GM-CSF differed significantly and progressively increased across the groups (HIV-1[-]?HIV-1[exp]?HIV-1[+]). To further explore the relationship between the inflammatory milieu (i.e., cytokines, chemokines, and growth factors) and HIV-1 status, the large panel of IMs was reduced into discrete groups by principal component factor analysis. Of the six principal components that emerged, three components were significantly higher in the HIV-1 [+]/pf[+] and HIV[exp]/Pf[+] groups, demonstrating that inflammatory profiles differ according to HIV-1 status. Additional analyses exploring the relationship between the components and anemia revealed significant positive correlations between Hb and Component 3 (IL-1Ra, IL-7, IL-17, IFN-?, IFN-?, MIG/CXCL9) in the HIV-1[-]/Pf[+] group, and Component 4 (IL-4, IL-5, IL-12, Eotaxin/CCL11) in HIV-1[+]/Pf[+] children. Further analyses of the HIV-1[+]/Pf[+] group revealed that IL-12 had the strongest association with anemia. Results presented here demonstrate that there are unique relationships between the inflammatory environment and anemia in HIV-1 positive and exposed children with malaria. PMID:22570198

  1. Implications of iron deficiency/anemia on the classification of diabetes using HbA1c

    PubMed Central

    Attard, S M; Herring, A H; Wang, H; Howard, A-G; Thompson, A L; Adair, L S; Mayer-Davis, E J; Gordon-Larsen, P

    2015-01-01

    Background/Objectives: Nonglycemic factors like iron deficiency (ID) or anemia may interfere with classification of diabetes and prediabetes using hemoglobin A1c (HbA1c). However, few population-based studies of diabetes in areas with endemic ID/anemia have been conducted. We aimed to determine how mutually exclusive categories of ID alone, anemia alone and iron-deficiency anemia (IDA) were each associated with prediabetes and diabetes prevalence using fasting blood glucose (FBG) versus HbA1c in a population-based study of adults with endemic ID/anemia. Subjects/Methods: We used data from the China Health and Nutrition Survey, a longitudinal, population-based study across 228 communities within nine provinces of China. This analysis included 7308 adults seen in the 2009 survey aged 18–75 years. We used descriptive and covariate-adjusted models to examine relative risk of prediabetes and diabetes using FBG alone, HbA1c alone, HbA1c and FBG, or neither (normoglycemia) by anemia alone, ID alone, IDA or normal iron/hemoglobin. Results: Approximately 65% of individuals with diabetes in our sample were concordantly classified with diabetes using both FBG and HbA1c, while 35% had a discordant diabetes classification: they were classified using either FBG or HbA1c, but not both. Fewer participants with ID alone versus normal iron/hemoglobin were classified with diabetes using HbA1c only. From covariate-adjusted, multinomial regression analyses, the adjusted prevalence of prediabetes using HbA1c only was 22% for men with anemia alone, but 13% for men with normal iron/hemoglobin. In contrast, the predicted prevalence of prediabetes using HbA1c only was 8% for women with ID alone, compared with 13% for women with normal iron/hemoglobin. Conclusions: These findings suggest potential misclassification of diabetes using HbA1c in areas of endemic ID/anemia. Estimating diabetes prevalence using HbA1c may result in under-diagnosis in women with ID and over-diagnosis in men with anemia. PMID:26098445

  2. Land Analysis System (LAS)

    NASA Technical Reports Server (NTRS)

    Pease, P. B.

    1989-01-01

    Version 4.1 of LAS provides flexible framework for algorithm development and processing and analysis of image data. Over 500,000 lines of code enable image repair, clustering, classification, film processing, geometric registration, radiometric correction, and manipulation of image statistics.

  3. AARRTTCCUULLOO Las forestaciones rioplatenses

    E-print Network

    Nacional de San Luis, Universidad

    los ecosistemas brin- dan, tales como la provisión de agua potable o la regulación hidrológica de compromisos con servicios esenciales que los ecosistemas brindan, tales como la provisión de agua potable o la revisan las consecuencias de este tipo de transformaciones sobre la dinámica del agua en los ecosistemas y

  4. Anemia as a useful biomarker in patients with diffuse large B-cell lymphoma treated with R-CHOP immunochemotherapy.

    PubMed

    Hong, Junshik; Woo, Hyun Seon; Kim, Hyunchul; Ahn, Hee Kyung; Sym, Sun Jin; Park, Jinny; Ahn, Jeong Yeal; Cho, Eun Kyung; Shin, Dong Bok; Lee, Jae Hoon

    2014-12-01

    The aim of the current study is to evaluate the prognostic value of anemia, an easily estimable parameter in patients with diffuse large B-cell lymphoma treated with rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP) immunochemotherapy. A total of 157 patients with newly diagnosed diffuse large B-cell lymphoma treated with ?1 cycle of R-CHOP were included. Hemoglobin level without red cell transfusion within 7 days of initiation of treatment was chosen as a parameter of baseline cancer-induced anemia. To investigate the clinical significance of chemotherapy-induced anemia and its recovery after completion of treatment, 87 patients in complete remission for ?6 months from the time of the last cycle of R-CHOP were grouped and analyzed separately. Patients with a cancer-induced anemia of hemoglobin <10 g/dL showed inferior event-free and disease-free survival compared to those with hemoglobin ?10 g/dL. This finding was observed irrespective of the status of pre-treatment bone marrow involvement. In multivariate analysis, hemoglobin <10 g/dL was found to be an international prognostic index-independent prognostic factor. Risk of relapse was significantly higher for patients who were still anemic at 6 months after R-CHOP, compared to those who achieved complete recovery from chemotherapy-induced anemia within 6 months. PMID:25263825

  5. Helicobacter pylori and anemia: a community-based cross-sectional study among adults in Southern Brazil.

    PubMed

    Santos, Iná S; Minten, Gicele Costa; Valle, Neiva C J; Tuerlinckx, Giovana Costa; Boccio, José; Barrado, Domingo Andrés; Silva, Alessandra Banaszeski da; Pereira, Guilherme Augusto Reissig

    2009-12-01

    To investigate the association between Helicobacter pylori and anemia, a community-based cross-sectional study was conducted among 18-45 year old users of the 31 primary health care units in Pelotas, Southern Brazil. Interviews using a structured questionnaire were carried out in waiting rooms during two work shifts. Anemia (hemoglobin < 11g/dL among pregnant women, < 12g/dL among women and < 13g/dL among men) was diagnosed from capillary blood (HemoCue) and H. pylori by means of a 13C-UBT. Information on socio-demographic, behavioral and biological characteristics was collected. Logistic and linear regression analyses were carried out, taking into account aggregated primary health care units. A total of 1,117 respondents fulfilled the inclusion criteria (losses/refusals: 8.1%). Prevalence of anemia was 20.6% (18.2-23.2%) and of H. pylori, 70.7% (68.0-73.6%). After allowing for age, sex and skin color the odds ratio for anemia among those who were diagnosed H. pylori positive was 0.94 (0.70-1.27). After allowing for sex, skin color, family monthly income, age, and smoking, the reduction in hemoglobin among H. pylori positive respondents was 0.07g/dL (-0.24-0.11; p = 0.4). There is no association between H. pylori and anemia among adults attending primary health care units in Southern Brazil. PMID:20191156

  6. An Imported Case of Severe Falciparum Malaria with Prolonged Hemolytic Anemia Clinically Mimicking a Coinfection with Babesiosis

    PubMed Central

    Na, Young Ju; Chai, Jong-Yil; Jung, Bong-Kwang; Lee, Hyun Jung; Song, Ji Young; Je, Ji Hye; Seo, Ji Hye; Park, Sung Hun; Choi, Ji Seon

    2014-01-01

    While imported falciparum malaria has been increasingly reported in recent years in Korea, clinicians have difficulties in making a clinical diagnosis as well as in having accessibility to effective anti-malarial agents. Here we describe an unusual case of imported falciparum malaria with severe hemolytic anemia lasting over 2 weeks, clinically mimicking a coinfection with babesiosis. A 48-year old Korean man was diagnosed with severe falciparum malaria in France after traveling to the Republic of Benin, West Africa. He received a 1-day course of intravenous artesunate and a 7-day course of Malarone (atovaquone/proguanil) with supportive hemodialysis. Coming back to Korea 5 days after discharge, he was readmitted due to recurrent fever, and further treated with Malarone for 3 days. Both the peripheral blood smears and PCR test were positive for Plasmodium falciparum. However, he had prolonged severe hemolytic anemia (Hb 5.6 g/dl). Therefore, 10 days after the hospitalization, Babesia was considered to be potentially coinfected. A 7-day course of Malarone and azithromycin was empirically started. He became afebrile within 3 days of this babesiosis treatment, and hemolytic anemia profiles began to improve at the completion of the treatment. He has remained stable since his discharge. Unexpectedly, the PCR assays failed to detect DNA of Babesia spp. from blood. In addition, during the retrospective review of the case, the artesunate-induced delayed hemolytic anemia was considered as an alternative cause of the unexplained hemolytic anemia. PMID:25548419

  7. An imported case of severe falciparum malaria with prolonged hemolytic anemia clinically mimicking a coinfection with babesiosis.

    PubMed

    Na, Young Ju; Chai, Jong-Yil; Jung, Bong-Kwang; Lee, Hyun Jung; Song, Ji Young; Je, Ji Hye; Seo, Ji Hye; Park, Sung Hun; Choi, Ji Seon; Kim, Min Ja

    2014-12-01

    While imported falciparum malaria has been increasingly reported in recent years in Korea, clinicians have difficulties in making a clinical diagnosis as well as in having accessibility to effective anti-malarial agents. Here we describe an unusual case of imported falciparum malaria with severe hemolytic anemia lasting over 2 weeks, clinically mimicking a coinfection with babesiosis. A 48-year old Korean man was diagnosed with severe falciparum malaria in France after traveling to the Republic of Benin, West Africa. He received a 1-day course of intravenous artesunate and a 7-day course of Malarone (atovaquone/proguanil) with supportive hemodialysis. Coming back to Korea 5 days after discharge, he was readmitted due to recurrent fever, and further treated with Malarone for 3 days. Both the peripheral blood smears and PCR test were positive for Plasmodium falciparum. However, he had prolonged severe hemolytic anemia (Hb 5.6 g/dl). Therefore, 10 days after the hospitalization, Babesia was considered to be potentially coinfected. A 7-day course of Malarone and azithromycin was empirically started. He became afebrile within 3 days of this babesiosis treatment, and hemolytic anemia profiles began to improve at the completion of the treatment. He has remained stable since his discharge. Unexpectedly, the PCR assays failed to detect DNA of Babesia spp. from blood. In addition, during the retrospective review of the case, the artesunate-induced delayed hemolytic anemia was considered as an alternative cause of the unexplained hemolytic anemia. PMID:25548419

  8. Intestine-specific Disruption of Hypoxia-inducible Factor (HIF)-2? Improves Anemia in Sickle Cell Disease.

    PubMed

    Das, Nupur; Xie, Liwei; Ramakrishnan, Sadeesh K; Campbell, Andrew; Rivella, Stefano; Shah, Yatrik M

    2015-09-25

    Sickle cell disease (SCD) is caused by genetic defects in the ?-globin chain. SCD is a frequently inherited blood disorder, and sickle cell anemia is a common type of hemoglobinopathy. During anemia, the hypoxic response via the transcription factor hypoxia-inducible factor (HIF)-2? is highly activated in the intestine and is essential in iron absorption. Intestinal disruption of HIF-2? protects against tissue iron accumulation in iron overload anemias. However, the role of intestinal HIF-2? in regulating anemia in SCD is currently not known. Here we show that in mouse models of SCD, disruption of intestinal HIF-2? significantly decreased tissue iron accumulation. This was attributed to a decrease in intestinal iron absorptive genes, which were highly induced in a mouse model of SCD. Interestingly, disruption of intestinal HIF-2? led to a robust improvement in anemia with an increase in RBC, hemoglobin, and hematocrit. This was attributed to improvement in RBC survival, hemolysis, and insufficient erythropoiesis, which is evident from a significant decrease in serum bilirubin, reticulocyte counts, and serum erythropoietin following intestinal HIF-2? disruption. These data suggest that targeting intestinal HIF-2? has a significant therapeutic potential in SCD pathophysiology. PMID:26296885

  9. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

    PubMed Central

    Cotter, P D; May, A; Fitzsimons, E J; Houston, T; Woodcock, B E; al-Sabah, A I; Wong, L; Bishop, D F

    1995-01-01

    X-linked sideroblastic anemia (XLSA) is caused by mutations of the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) resulting in deficient heme synthesis. The characteristic hypochromic, microcytic anemia typically becomes manifest in the first three decades of life. Hematologic response to pyridoxine is variable and rarely complete. We report two unrelated cases of highly pyridoxine-responsive XLSA in geriatric patients previously diagnosed with refractory anemia and ringed sideroblasts. A previously unaffected 77-yr-old male and an 81-yr-old female were each found to have developed severe hypochromic, microcytic anemia with ringed sideroblasts in the bone marrow, which responded dramatically to pyridoxine with normalization of hemoglobin values. Sequence analysis identified an A to C transversion in exon 7 (K299Q) of the ALAS2 gene in the male proband and his daughter. In the female proband a G to A transition was identified in exon 5 (A172T). This mutation resulted in decreased in vitro stability of bone marrow delta-aminolevulinate synthase activity. Each patient's recombinant mutant ALAS2 enzyme had marked thermolability. Addition of pyridoxal 5'-phosphate in vitro stabilized the mutant enzymes, consistent with the observed dramatic response to pyridoxine in vivo. This late-onset form of XLSA can be distinguished from refractory anemia and ringed sideroblasts by microcytosis, pyridoxine-responsiveness, and ALAS2 mutations. These findings emphasize the need to consider all elderly patients with microcytic sideroblastic anemia as candidates for XLSA, especially if pyridoxine responsiveness is demonstrated. Images PMID:7560104

  10. Risk Factors of Pulmonary Hypertension in Brazilian Patients with Sickle Cell Anemia

    PubMed Central

    Lobo, Clarisse Lopes de Castro; do Nascimento, Emilia Matos; Abelha, Renato; Queiroz, Ana Maria Mach; Connes, Philippe; Cardoso, Gilberto Perez; Ballas, Samir K.

    2015-01-01

    This study was a prospective cross-sectional cohort study of 125 patients with sickle cell anemia (SS) between the ages of 16 to 60 years. Enrolled patients were followed-up prospectively for 15 months. Demographic, clinical, hematological and routine biochemical data were obtained on all patients. Six-minute walk test and Doppler Echocardiography were performed on all patients. A tricuspid regurgitant jet velocity (TRJV) < 2.5 m/sec was considered normal, 2.5 ? TRJV ? 3.0 was considered mild-moderate and > 3.0 m/sec, severe. Patients with abnormal TRJV were significantly older and more anemic, had significantly higher lactate dehydrogenase (LDH) levels, reticulocyte count and incidence of death. The logistic multimodal model implemented for the 125 patients indicated that age was the covariate that influenced the outcome of normal or abnormal TRJV with a cutoff age of thirty-two years. The survival rate for the group of patients with creatinine (Cr) > 1.0 mg/dL was lower than the group with Cr ? 1 and normal TRJV. A coefficient matrix showed that the LDH values were weakly correlated with the reticulocyte count but strongly correlated with hemoglobin suggesting that the TRJV values were not correlated with the hemolytic rate but with anemia. Ten patients died during the follow-up of whom 7 had TRJV > 2.5 m/sec. Acute chest syndrome was the most common cause of death followed by sepsis. In conclusion, this study shows that patients with SS older than thirty-two years with high LDH, elevated TRJV, severe anemia and Cr > 1 have poor prognosis and may be at risk of having pulmonary hypertension and should undergo RHC. PMID:26335226

  11. Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

    PubMed

    Huang, Jiwei; Zhang, Xinhua; Liu, Dun; Wei, Xiaofeng; Shang, Xuan; Xiong, Fu; Yu, Lihua; Yin, Xiaolin; Xu, Xiangmin

    2015-10-01

    Krüppel-like factor 1 (KLF1) regulates erythroid lineage commitment, globin switching, and the terminal maturation of red blood cells. Variants in human KLF1 have been identified as an important causative factor in a wide spectrum of phenotypes. This study investigated two unrelated male children in China who had refractory anemia associated with poikilocythemia. These were accompanied by an upregulation of biochemical markers of hemolysis, along with abnormal hemoglobin (Hb) level and elevated reticulocyte counts. Next-generation sequencing revealed that the patients were compound heterozygotes for a KLF1 frameshift mutation c.525_526insCGGCGCC (p.(Gly176ArgfsTer179)) and one of two missense variants, c.892?G>C (p.(Ala298Pro)) and c.1012C>T (p.(Pro338Ser)). The subjects had microcytic hypochromic anemia, and their healthy parents had single mutation. The two missense mutations affected a highly conserved codon in the zinc finger DNA-binding domain of KLF1, but the protein stability was unaffected in K-562 cells. A KLF1-targeted promoter-reporter assay showed that the two mutations reduce the expression of the HBB, BCL11A, and CD44 genes involved in erythropoiesis, with consequent dyserythropoiesis and an ?/non-? chain imbalance. A systematic analysis was performed of the phenotypes associated with the KLF1 mutations in the two families, and the clinical characteristics and differential diagnoses of the disease are presented. This is the first report of an autosomal recessive anemia presenting with microcytic hypochromia, abnormal Hb profile, and other distinctive erythrocyte phenotypes, and provides insight into the multiple roles of KLF1 during erythropoiesis. PMID:25585695

  12. Phosphatidylserine exposure and red cell viability in red cell aging and in hemolytic anemia

    PubMed Central

    Boas, Franz Edward; Forman, Linda; Beutler, Ernest

    1998-01-01

    Phosphatidylserine (PS) normally localizes to the inner leaflet of cell membranes but becomes exposed in abnormal or apoptotic cells, signaling macrophages to ingest them. Along similar lines, it seemed possible that the removal of red cells from circulation because of normal aging or in hemolytic anemias might be triggered by PS exposure. To investigate the role of PS exposure in normal red cell aging, we used N-hydroxysuccinimide-biotin to tag rabbit red cells in vivo, then used phycoerythrin-streptavidin to label the biotinylated cells, and annexin V-fluorescein isothiocyanate (FITC) to detect the exposed PS. Flow cytometric analysis of these cells drawn at 10-day intervals up to 70 days after biotinylation indicated that older, biotinylated cells expose more PS. Furthermore, our data match a simple model of red cell senescence that assumes both an age-dependent destruction of senescent red cells preceded by several hours of PS exposure and a random destruction of red cells without PS exposure. By using this model, we demonstrated that the exposure of PS parallels the rate at which biotinylated red cells are removed from circulation. On the other hand, using an annexin V-FITC label and flow cytometry demonstrates that exposed PS does not cause the reduced red cell life span of patients with hemolytic anemia, with the possible exception of those with unstable hemoglobins or sickle cell anemia. Thus, in some cases PS exposure on the cell surface may signal the removal of red cells from circulation, but in other cases some other signal must trigger the sequestration of cells. PMID:9501218

  13. Anemia and mechanism of erythrocyte destruction in ducks with acute Leucocytozoon infections

    USGS Publications Warehouse

    Kocan, R.M.

    1968-01-01

    In the anemia which accompanies infection by Leucocytozoon simondi in Pekin ducks there was a far greater loss of erythrocytes than could be accounted for as a result of direct physical rupture by the parasite. Erythrocyte loss began at the same time the 1st parasites appeared in the blood and was severest just prior to maximum parasitemia. Blood replacement and parasite loss occurred simultaneously. Examination of the spleen and bone marrow revealed that erythrophagocytosis was not the cause of anemia as reported for infections of Plasmodium, Babesia and Anaplasma. An anti-erythrocyte (A-E) factor was found in the serum of acutely infected ducks which agglutinated and hemolyzed normal untreated duck erythrocytes as well as infected cells. This A-E factor appeared when the 1st red cell loss was detected and reached its maximum titer just prior to the greatest red cell loss. Titers of the A-E factor were determined using normal uninfected erythrocytes at temperatures between 4 and 42 C. Cells agglutinated below 25 C and hemolyzed at 37 and 42 C. These results indicated that the A-E factor could be responsible for loss of cells other than those which were infected and could thus produce an excess loss of red cells. Attempts to implicate the A-E factor as an autoantibody were all negative. The A-E factor was present in the gamma fraction of acute serum but no anamnestic response could be detected when recovered ducks were reinfected. Anemia was never as severe in reinfections as in primary infections. The A-E factor also never reached as high a titer and was removed from the circulation very rapidly in reinfected ducks. It is concluded that red cell loss in ducks with acute Leucocytozoon disease results from intravascular hemolysis rather than erythrophagocytosis. The A-E factor responsible for hemolysis is more likely a parasite product rather than autoantibody.

  14. Isolation and Characterization of Renal Erythropoietin-Producing Cells from Genetically Produced Anemia Mice

    PubMed Central

    Pan, Xiaoqing; Suzuki, Norio; Hirano, Ikuo; Yamazaki, Shun; Minegishi, Naoko; Yamamoto, Masayuki

    2011-01-01

    Understanding the nature of renal erythropoietin-producing cells (REPs) remains a central challenge for elucidating the mechanisms involved in hypoxia and/or anemia-induced erythropoietin (Epo) production in adult mammals. Previous studies have shown that REPs are renal peritubular cells, but further details are lacking. Here, we describe an approach to isolate and characterize REPs. We bred mice bearing an Epo gene allele to which green fluorescent protein (GFP) reporter cDNA was knocked-in (EpoGFP) with mice bearing an Epo gene allele lacking the 3? enhancer (Epo?3?E). Mice harboring the mutant EpoGFP/?3?E gene exhibited anemia (average Hematocrit 18% at 4 to 6 days after birth), and this perinatal anemia enabled us to identify and purify REPs based on GFP expression from the kidney. Light and confocal microscopy revealed that GFP immunostaining was confined to fibroblastic cells that reside in the peritubular interstitial space, confirming our previous observation in Epo-GFP transgenic reporter assays. Flow cytometry analyses revealed that the GFP fraction constitutes approximately 0.2% of the whole kidney cells and 63% of GFP-positive cells co-express CD73 (a marker for cortical fibroblasts and Epo-expressing cells in the kidney). Quantitative RT-PCR analyses confirmed that Epo expression was increased by approximately 100-fold in the purified population of REPs compared with that of the unsorted cells or CD73-positive fraction. Gene expression analyses showed enrichment of Hif2? and Hif3? mRNA in the purified population of REPs. The genetic approach described here provides a means to isolate a pure population of REPs, allowing the analysis of gene expression of a defined population of cells essential for Epo production in the kidney. This has provided evidence that positive regulation by HIF2? and negative regulation by HIF3? might be necessary for correct renal Epo induction. (282 words) PMID:22022454

  15. High-Content Screening in Zebrafish Embryos Identifies Butafenacil as a Potent Inducer of Anemia

    PubMed Central

    Leet, Jessica K.; Lindberg, Casey D.; Bassett, Luke A.; Isales, Gregory M.; Yozzo, Krystle L.; Raftery, Tara D.; Volz, David C.

    2014-01-01

    Using transgenic zebrafish (fli1:egfp) that stably express enhanced green fluorescent protein (eGFP) within vascular endothelial cells, we recently developed and optimized a 384-well high-content screening (HCS) assay that enables us to screen and identify chemicals affecting cardiovascular development and function at non-teratogenic concentrations. Within this assay, automated image acquisition procedures and custom image analysis protocols are used to quantify body length, heart rate, circulation, pericardial area, and intersegmental vessel area within individual live embryos exposed from 5 to 72 hours post-fertilization. After ranking developmental toxicity data generated from the U.S. Environmental Protection Agency's (EPA's) zebrafish teratogenesis assay, we screened 26 of the most acutely toxic chemicals within EPA's ToxCast Phase-I library in concentration-response format (0.05–50 µM) using this HCS assay. Based on this screen, we identified butafenacil as a potent inducer of anemia, as exposure from 0.39 to 3.125 µM butafenacil completely abolished arterial circulation in the absence of effects on all other endpoints evaluated. Butafenacil is an herbicide that inhibits protoporphyrinogen oxidase (PPO) – an enzyme necessary for heme production in vertebrates. Using o-dianisidine staining, we then revealed that severe butafenacil-induced anemia in zebrafish was due to a complete loss of hemoglobin following exposure during early development. Therefore, six additional PPO inhibitors within the ToxCast Phase-I library were screened to determine whether anemia represents a common adverse outcome for these herbicides. Embryonic exposure to only one of these PPO inhibitors – flumioxazin – resulted in a similar phenotype as butafenacil, albeit not as severe as butafenacil. Overall, this study highlights the potential utility of this assay for (1) screening chemicals for cardiovascular toxicity and (2) prioritizing chemicals for future hypothesis-driven and mechanism-focused investigations within zebrafish and mammalian models. PMID:25090246

  16. Prevalence of Anemia among Tribal Women of Reproductive Age in Udupi Taluk, Karnataka

    PubMed Central

    Kamath, Ramachandra; Majeed, Jazeel Abdul; Chandrasekaran, Varalakshmi; Pattanshetty, Sanjay M.

    2013-01-01

    Context: Anaemia is a major public health problem in India. Many studies have emphasized on prevalence of anaemia among general population. This study has focussed to address the prevalence of anaemia among the tribal population in Udupi taluk. Anaemia among women in the reproductive age group is one of the causes for maternal morbidity and mortality in India. Aim: To estimate the prevalence of anemia among tribal women (aged 15 to 49 years). Settings and Design: A Community based cross sectional study was conducted among tribal women aged 14-49 years in Udupi taluk, Udupi district, Karnataka. Methods and Material: A cross sectional study during July 2012 to August 2012 was conducted. A sample size of 170 was calculated taking into consideration a relative error of 15% and the prevalence of anemia in Karnataka as 51% (as per the NFHS-3). Statistical analysis used: Univariate and multivariate analysis was used to analyse the data using SPSS 15. Results: The study sample had a mean hemoglobin value of 11.3 g/dL with 95% CI of (11 – 11.6), with a standard deviation of 2g/dL. The study reveals that in the sample of tribal women in the age group of 15-49 years, the prevalence of anemia was 55.9%. Among the subjects, 6 (3.5%) were severely anemic, 33 (19.4%) were moderately anemic and 56 (32.9%) were mildly anemic. Conclusions: This study calls for an appropriate action and intervention in this tribal population to treat and prevent anaemia.

  17. Optimizing iron delivery in the management of anemia: patient considerations and the role of ferric carboxymaltose

    PubMed Central

    Toblli, Jorge Eduardo; Angerosa, Margarita

    2014-01-01

    With the challenge of optimizing iron delivery, new intravenous (iv) iron–carbohydrate complexes have been developed in the last few years. A good example of these new compounds is ferric carboxymaltose (FCM), which has recently been approved by the US Food and Drug Administration for the treatment of iron deficiency anemia in adult patients who are intolerant to oral iron or present an unsatisfactory response to oral iron, and in adult patients with non-dialysis-dependent chronic kidney disease (NDD-CKD). FCM is a robust and stable complex similar to ferritin, which minimizes the release of labile iron during administration, allowing higher doses to be administered in a single application and with a favorable cost-effective rate. Cumulative information from randomized, controlled, multicenter trials on a diverse range of indications, including patients with chronic heart failure, postpartum anemia/abnormal uterine bleeding, inflammatory bowel disease, NDD-CKD, and those undergoing hemodialysis, supports the efficacy of FCM for iron replacement in patients with iron deficiency and iron-deficiency anemia. Furthermore, as FCM is a dextran-free iron–carbohydrate complex (which has a very low risk for hypersensitivity reactions) with a small proportion of the reported adverse effects in a large number of subjects who received FCM, it may be considered a safe drug. Therefore, FCM appears as an interesting option to apply high doses of iron as a single infusion in a few minutes in order to obtain the quick replacement of iron stores. The present review on FCM summarizes diverse aspects such as pharmacology characteristics and analyzes trials on the efficacy/safety of FCM versus oral iron and different iv iron compounds in multiple clinical scenarios. Additionally, the information on cost effectiveness and data on change in quality of life are also discussed. PMID:25525337

  18. Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.

    PubMed

    Mikstiene, Violeta; Songailiene, Jurgita; Byckova, Jekaterina; Rutkauskiene, Giedre; Jasinskiene, Edita; Verkauskiene, Rasa; Lesinskas, Eugenijus; Utkus, Algirdas

    2015-07-01

    Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease - megaloblastic anemia, early onset deafness, and non-type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania - a 3-year-old boy born to a non-consanguineous family with a novel homozygous SLC19A2 gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100?mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of SLC19A2 gene molecular testing confirmed the clinical diagnosis - novel homozygous c.[205G>T], p.[(Val69Phe)] mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition. PMID:25707023

  19. The Lack of Association of Iron Deficiency With Anemia in First Graders.

    PubMed

    Jaber, Lutfi; Diamond, Gary

    2015-10-01

    Iron-deficiency anemia (IDA) is a disease with worldwide prevalence. The prevalence of IDA and iron deficiency (ID) was ascertained by serum ferritin and mean corpuscular volume (MCV) levels in first graders in Taibe. A total of 1132 first graders were tested for the iron status between the years 1999 and 2004. Serum ferritin, hemoglobin (Hb), hematocrit, MCV, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, and red and white blood cell counts were checked. Hb<11.5 g/dL, serum ferritin<12 ?g/L, and MCV<75 fL were the criteria we chose for establishing IDA, and serum ferritin<12 ?g/L and MCV<75 fL for establishing ID. Non-IDA was ascertained by a low Hb value, coupled with normal serum ferritin. The mean value of serum ferritin was 26.6±16.8 ?g/L. Eighty-two (11.8%) children had low serum ferritin (<12 ?g/L). The mean value of Hb was 12.3±0.8, and 80 (11.5%) of the children had low Hb. A correlation was found between hematological parameters and Hb. The prevalence of IDA, ID, and non-IDA was 2.2%, 11.8%, and 9.4%, respectively. No correlation was found between indices of anemia and demographic characteristics. Non-IDA and ID are prevalent in 5 to 6-year-old Arab children; however, IDA is surprisingly low. We need to look for other causes of anemia in this age group of the population. PMID:26334429

  20. Efficacy of different strategies to treat anemia in children: a randomized clinical trial

    PubMed Central

    2010-01-01

    Background Anemia continues to be a major public health problem among children in many regions of the world, and it is still not clear which strategy to treat it is most effective. Objective To evaluate the efficacy and children's acceptance of several recognized strategies to treat anemia. Methods Non-breastfed children (n = 577), 6 to 43 mo of age, were screened for the trial; 267 were anemic (hemoglobin < 11.7 g/dL), and 266 of those were randomized into 1 of 5 treatments to received daily either: an iron supplement (IS), an iron+folic acid supplement (IFS), a multiple micronutrient supplement (MMS), a micronutrient-fortified complementary food as porridge powder (FCF), or zinc+iron+ascorbic acid fortified water (FW). The iron content of each daily dose was 20, 12.5, 10, 10 and 6.7 mg respectively. Hemoglobin (Hb), ferritin, total iron, weight and height were measured at baseline and after 4 months of treatment. Morbidity, treatment acceptability and adherence were recorded during the intervention. Results All treatments significantly increased Hb and total iron concentration; ferritin did not change significantly. Groups MMS, IS and IFS increased Hb (g/dL) [1.50 (95%CI: 1.17, 1.83), 1.48 [(1.18, 1.78) and 1.57 (1.26, 1.88), respectively] and total iron ((?g/dL) [0.15 (0.01, 0.29), 0.19 (0.06, 0.31) and 0.12(-0.01, 0.25), respectively] significantly more than FCF [0.92 (0.64, 1.20)] but not to FW group [0.14 (0.04, 0.24)]. The prevalence of anemia was reduced to a greater extent in the MMS and IFS groups (72% and 69%, respectively) than in the FCF group (45%) (p < 0.05). There were no significant differences in anthropometry or in the number of episodes of diarrhea and respiratory infections among treatment groups. The supplements MMS and IS were less acceptable to children, than IFS, FCF and FW. Conclusion The three supplements IS, ISF and MMS increased Hb more than the FCF; the supplements that contained micronutrients (IFS and MMS) were more effective for reducing the prevalence of anemia. In general, fortified foods were better accepted by the study participants than supplements. ClinicalTrial.gov Identifier NCT00822380 PMID:20863398

  1. Associations of race and ethnicity with anemia management among patients initiating renal replacement therapy.

    PubMed Central

    Weisbord, Steven D.; Fried, Linda F.; Mor, Maria K.; Resnick, Abby L.; Kimmel, Paul L.; Palevsky, Paul M.; Fine, Michael J.

    2007-01-01

    BACKGROUND: Many patients initiate renal replacement therapy with suboptimal anemia management. The factors contributing to this remain largely unknown. The aim of this study was to assess the associations of race and ethnicity with anemia care prior to the initiation of renal replacement therapy. METHODS: Using data from the medical evidence form filed for patients who initiated renal replacement therapy between 1995-2003, we assessed racial and ethnic differences in pre-end-stage renal disease hematocrit levels, the use of erythropoiesis stimulation agents (ESAs), the proportion of patients with hematocrit levels > or = 33% and the proportion of patients with hematocrit levels < 33% that did not receive ESA. We also examined secular trends in racial and ethnic differences in these parameters. RESULTS: In multivariable analyses, non-Hispanic blacks had lower hematocrit levels (delta hematocrit = -0.97%, 95% CI: -1.00-0.94%), and were less likely to receive ESA (OR = 0.82, 95% CI: 0.81-0.84), to initiate renal replacement therapy with hematocrit > or = 33% (OR = 0.78, 95% CI: 0.77-0.79) or to receive ESA if the hematocrit was < 33% (OR = 0.79, 95% CI: 0.77-0.80) than non-Hispanic whites. White Hispanics also had lower hematocrit levels (delta hematocrit = -0.42%, 95% CI:-0.47% to -0.37%), and were less likely to receive ESA (OR = 0.86, 95% CI: 0.85-0.88), to have hematocrit levels > or = 33% (OR = 0.91, 95% CI: 0.89-0.93) or to receive ESA if the hematocrit was < 33% (OR = 0.85, 95% CI: 0.83-0.87) than non-Hispanic whites. These disparities persisted over the eight-year study period. CONCLUSIONS: African-American race and Hispanic ethnicity are associated with suboptimal pre-end-stage renal disease anemia management. Efforts to improve anemia care should incorporate targeted interventions to decrease these disparities. PMID:18020096

  2. The care of a child with multiple trauma and severe anemia who was a Jehovah's Witness.

    PubMed

    Digieri, Luciana Andrea; Pistelli, Ivan Pollastrini; de Carvalho, Cid Eduardo

    2006-06-01

    Jehovah's Witness followers do not accept blood derived transfusions and available methods for avoiding transfusion have been used with degrees of success, demonstrating that the probability of death after trauma in these patients may not be significantly different from religious groups. In this report, we describe the case of a child victim of a multiple trauma with severe anemia due to blood loss, whose family would not authorize blood transfusion because of their Jehovah's Witness faith. We discuss the current indications for restricting transfusion, as well as highlighting new tools that contribute to the success of minimizing blood loss, thus avoiding transfusion. PMID:17325960

  3. Pulmonary Alveolar Proteinosis in Association with Congenital Dyserythropoietic Anemia: A Case Report

    PubMed Central

    Carden, Marcus A.; Barman, Ashish; Massey, Gita

    2012-01-01

    A two-year-old girl with congenital dyserythropoietic anemia (CDA) acutely developed fever, tachypnea, and increased oxygen requirement. Chest X-ray revealed bilateral interstitial infiltrates and mild cardiomegaly. Blood cultures grew no infectious agents, while pulmonary specimens grew cytomegalovirus (CMV). Treatment with intravenous ganciclovir was initiated but without response. Final cytologic preparations of bronchoalveolar lavage (BAL) fluid revealed eosinophilic amorphous material consistent with pulmonary alveolar proteinosis (PAP). CDA and PAP are extremely rare disorders in pediatrics. PAP should be considered in patients with hematological disorders who present with acute interstitial pneumonia, after infectious causes are ruled out. PMID:22953144

  4. Diagnostic and therapeutic considerations in idiopathic hypereosinophilia with warm autoimmune hemolytic anemia

    PubMed Central

    Sweidan, Alexander J; Brys, Adam K; Sohn, David D; Sheth, Milan R

    2015-01-01

    Hypereosinophilic syndrome (HES) encompasses numerous diverse conditions resulting in peripheral hypereosinophilia that cannot be explained by hypersensitivity, infection, or atopy and that is not associated with known systemic diseases with specific organ involvement. HES is often attributed to neoplastic or reactive causes, such as chronic eosinophilic leukemia, although a majority of cases remains unexplained and are considered idiopathic. Here, we review the current diagnosis and management of HES and present a unique case of profound hypereosinophilia associated with warm autoimmune hemolytic anemia requiring intensive management. This case clearly illustrates the limitations of current knowledge with respect to hypereosinophilia syndrome as well as the challenges associated with its classification and management. PMID:26379449

  5. Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia

    PubMed Central

    Zhang, Zhaojun; Jia, Haibo; Zhang, Qian; Wan, Yang; Song, Binfeng; Jia, Qiong; Liu, Hanzhi; Zhu, Xiaofan; Fang, Xiangdong

    2014-01-01

    To comprehensively reflect the roles of Rpl11 on the transcriptome of zebrafish model of Diamond-Blackfan Anemia (DBA), we performed whole-genome transcriptome sequencing on the Illumina Hi-Seq 2000 sequencing platform. Two different transcriptomes of zebrafish Rpl11-deficient and control Morpholino (Mo) embryos were collected and analyzed. The experimental design and methods, including sample preparation, RNA-Seq data evaluation and treatment, were described in details so that representative high-throughput sequencing data were acquired for assessing the actual impacts of Rpl11 on zebrafish embryos. We provided the accession number GSE51326 for easy access to the database. PMID:26484089

  6. Diagnostic and therapeutic considerations in idiopathic hypereosinophilia with warm autoimmune hemolytic anemia.

    PubMed

    Sweidan, Alexander J; Brys, Adam K; Sohn, David D; Sheth, Milan R

    2015-01-01

    Hypereosinophilic syndrome (HES) encompasses numerous diverse conditions resulting in peripheral hypereosinophilia that cannot be explained by hypersensitivity, infection, or atopy and that is not associated with known systemic diseases with specific organ involvement. HES is often attributed to neoplastic or reactive causes, such as chronic eosinophilic leukemia, although a majority of cases remains unexplained and are considered idiopathic. Here, we review the current diagnosis and management of HES and present a unique case of profound hypereosinophilia associated with warm autoimmune hemolytic anemia requiring intensive management. This case clearly illustrates the limitations of current knowledge with respect to hypereosinophilia syndrome as well as the challenges associated with its classification and management. PMID:26379449

  7. Transcriptome analysis of Rpl11-deficient zebrafish model of Diamond-Blackfan Anemia.

    PubMed

    Zhang, Zhaojun; Jia, Haibo; Zhang, Qian; Wan, Yang; Song, Binfeng; Jia, Qiong; Liu, Hanzhi; Zhu, Xiaofan; Fang, Xiangdong

    2014-12-01

    To comprehensively reflect the roles of Rpl11 on the transcriptome of zebrafish model of Diamond-Blackfan Anemia (DBA), we performed whole-genome transcriptome sequencing on the Illumina Hi-Seq 2000 sequencing platform. Two different transcriptomes of zebrafish Rpl11-deficient and control Morpholino (Mo) embryos were collected and analyzed. The experimental design and methods, including sample preparation, RNA-Seq data evaluation and treatment, were described in details so that representative high-throughput sequencing data were acquired for assessing the actual impacts of Rpl11 on zebrafish embryos. We provided the accession number GSE51326 for easy access to the database. PMID:26484089

  8. A decrease in irreversibly sickled erythrocytes in sicle cell anemia patients given vitamin E.

    PubMed

    Natta, C L; Machlin, L J; Brin, M

    1980-05-01

    Patients with sickle cell anemia were given 450 IU of vitamin E (as alpha-tocopherol) per day for 6 to 35 weeks. Plasma tocopherol levels increased from 0.7 +/- 0.2 mg/g lipid pretreatment, to 2.3 +/- 0.3 mg/g lipid. The percentage of circulating irreversibly sickled red cells decreased from 25 +/- 3% pretreatment to 11 +/- 1% after vitamin E administration (P less than 0.001). The percentage of irreversibly sickled red cells remained below pretreatment levels as long as the vitamin was administered (up to 35 weeks). The biochemical and clinical implications of these observations are discussed. PMID:6154411

  9. Red blood cell transfusion in pediatric patients with severe chronic anemia: how slow is necessary?

    PubMed

    Agrawal, Anurag K; Hsu, Edmund; Quirolo, Keith; Neumayr, Lynne D; Flori, Heidi R

    2012-03-01

    Historic practice recommends slow transfusion for children with chronic anemia and hemoglobin less than 5.0?g/dl due to the theoretical risk of transfusion-associated circulatory overload (TACO). In our pediatric intensive care unit (PICU), we have been utilizing a more liberal transfusion practice in patients without underlying cardiopulmonary disease, and a faster transfusion rate appears safe in this population. Rate of transfusion must be based on multiple factors including convenience, timeliness of procedures and transport to an appropriate care facility, risk of alloimmunization and wastage of blood, stress for the family, and need for PICU monitoring. PMID:21793178

  10. Multivitamin and Iron Supplementation to Prevent Periconceptional Anemia in Rural Tanzanian Women: A Randomized, Controlled Trial

    PubMed Central

    Gunaratna, Nilupa S.; Masanja, Honorati; Mrema, Sigilbert; Levira, Francis; Spiegelman, Donna; Hertzmark, Ellen; Saronga, Naomi; Irema, Kahema; Shuma, Mary; Elisaria, Ester; Fawzi, Wafaie

    2015-01-01

    Objective Women’s nutritional status during conception and early pregnancy can influence maternal and infant outcomes. This study examined the efficacy of pre-pregnancy supplementation with iron and multivitamins to reduce the prevalence of anemia during the periconceptional period among rural Tanzanian women and adolescent girls. Design A double-blind, randomized controlled trial was conducted in which participants were individually randomized to receive daily oral supplements of folic acid alone, folic acid and iron, or folic acid, iron, and vitamins A, B-complex, C, and E at approximately single recommended dietary allowance (RDA) doses for six months. Setting Rural Rufiji District, Tanzania. Subjects Non-pregnant women and adolescent girls aged 15–29 years (n = 802). Results The study arms were comparable in demographic and socioeconomic characteristics, food security, nutritional status, pregnancy history, and compliance with the regimen (p>0.05). In total, 561 participants (70%) completed the study and were included in the intention-to-treat analysis. Hemoglobin levels were not different across treatments (median: 11.1 g/dL, Q1-Q3: 10.0–12.4 g/dL, p = 0.65). However, compared with the folic acid arm (28%), there was a significant reduction in the risk of hypochromic microcytic anemia in the folic acid and iron arm (17%, RR: 0.61, 95% CI: 0.42–0.90, p = 0.01) and the folic acid, iron, and multivitamin arm (19%, RR: 0.66, 95% CI: 0.45–0.96, p = 0.03). Inverse probability of treatment weighting (IPTW) to adjust for potential selection bias due to loss to follow-up did not materially change these results. The effect of the regimens was not modified by frequency of household meat consumption, baseline underweight status, parity, breastfeeding status, or level of compliance (in all cases, p for interaction>0.2). Conclusions Daily oral supplementation with iron and folic acid among women and adolescents prior to pregnancy reduces risk of anemia. The potential benefits of supplementation on the risk of periconceptional anemia and adverse pregnancy outcomes warrant investigation in larger studies. Trial Registration ClinicalTrials.gov NCT01183572 PMID:25905863

  11. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: median arcuate ligament syndrome.

    PubMed

    Gunduz, Yasemin; Asil, K?yasettin; Aksoy, Yakup Ersel; Tatl? Ayhan, Laçin

    2014-01-01

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case. PMID:25053902

  12. Diamond Blackfan anemia: A paradigm for a ribosome-based disease.

    PubMed

    Ellis, Steven R; Massey, Amy Tabb

    2006-01-01

    Diamond Blackfan anemia is characterized by a severe hypoplastic anemia and a heterogeneous collection of other clinical features. Approximately 25% of Diamond Blackfan anemia cases are associated with mutations in the gene encoding ribosomal protein S19. The hypothesis presented here ties together molecular and clinical features of the disease, and establishes a conceptual framework for understanding many of the unusual characteristics of a growing number of diseases linked to factors involved in ribosome synthesis. The hypothesis states that ribosomal proteins are expressed in amounts that differ relative to one another in a tissue-specific manner, and that haploinsufficiency for a particular protein may make that protein limiting for ribosome assembly in some tissues, while other tissues remain unaffected. Further, polymorphisms in factors controlling the expression of a particular ribosomal protein gene may alter its expression and expand or contract the number of tissues affected from individual to individual. Support for the hypothesis comes from the observation that promoters in ribosomal protein genes exhibit little conservation and transcription profiling indicates that the absolute amounts of mRNAs for individual ribosomal proteins can vary dramatically relative to one another. Balanced expression of ribosomal proteins is achieved post-translationally, where excess proteins not assembled into ribosomal subunits are often rapidly degraded. The number of ribosomes per cell is therefore determined by the factors that limit assembly. In principle, any essential ribosomal protein could become limiting for assembly if its level of expression falls below a critical threshold. Whether an inactivating mutation in ribosomal protein gene would affect protein synthetic capacity of a tissue would depend on the ratio of the ribosomal protein relative to other ribosomal proteins in that tissue. If the ratio were high, the tissue may not be affected as the level of functional protein may not fall to a point where it becomes limiting for subunit assembly. In contrast, if the ratio were low, an inactivating mutation could make the protein limiting for subunit assembly resulting in a clinical phenotype. Polymorphisms in the myriad of cis- and trans-acting factors, which govern the expression of ribosomal proteins in response to developmental and physiological signals, could act to increase or decrease ribosomal protein expression and thereby impact the profile and severity of clinical phenotypes. Therefore, these factors represent targets for the development of new therapies to treat Diamond Blackfan anemia and other ribosome based diseases. PMID:16239073

  13. First report of co-morbidity of pantothenate kinase-associated neurodegeneration and three types of chronic hemolytic anemias

    PubMed Central

    Talaat, Iman M.; Kamal, Naglaa M.; El Melegy, Ebtessam H.K.; Alghamdi, Hamed A.; Aljabri, Mohammed F.; Abdallah, Enas A.A.; Sarar, Mohammed; Alshahrani, Mohamed A.

    2015-01-01

    Background Pantothenate kinase-associated neurodegeneration (PKAN), sickle cell anemia, and thalassemia are autosomal recessive disorders that can cause iron deposition in tissues during childhood. PKAN is characterized by accumulation of iron in the basal ganglia causing progressive extrapyramidal manifestations. Thalassemia and sickle cell disease can cause iron overload and deposition in tissues, including central nervous system. Presentation of case we herein report the first report of comorbidity of PKAN, ?-thalassemia-major, sickle cell and glucose-6-phosphate dehydrogenase deficiency (G6PD) anemias in a 9 years old Saudi female patient who presented with gait disturbance, speech difficulty, and progressive movement disorders of the neck, upper and lower limbs. Conclusion Although extremely rare, ?-thalassemia-major, sickle cell and G6PD anemias can be associated with PKAN. It is unknown whether this association is random or due to an unknown factor that may have caused several mutations.

  14. The 2014 Canadian Cardiovascular Society Heart Failure Management Guidelines Focus Update: anemia, biomarkers, and recent therapeutic trial implications.

    PubMed

    Moe, Gordon W; Ezekowitz, Justin A; O'Meara, Eileen; Lepage, Serge; Howlett, Jonathan G; Fremes, Steve; Al-Hesayen, Abdul; Heckman, George A; Abrams, Howard; Ducharme, Anique; Estrella-Holder, Estrellita; Grzeslo, Adam; Harkness, Karen; Koshman, Sheri L; McDonald, Michael; McKelvie, Robert; Rajda, Miroslaw; Rao, Vivek; Swiggum, Elizabeth; Virani, Sean; Zieroth, Shelley; Arnold, J Malcolm O; Ashton, Tom; D'Astous, Michel; Chan, Michael; De, Sabe; Dorian, Paul; Giannetti, Nadia; Haddad, Haissam; Isaac, Debra L; Kouz, Simon; Leblanc, Marie-Hélène; Liu, Peter; Ross, Heather J; Sussex, Bruce; White, Michel

    2015-01-01

    The 2014 Canadian Cardiovascular Society Heart Failure Management Guidelines Update provides discussion on the management recommendations on 3 focused areas: (1) anemia; (2) biomarkers, especially natriuretic peptides; and (3) clinical trials that might change practice in the management of patients with heart failure. First, all patients with heart failure and anemia should be investigated for reversible causes of anemia. Second, patients with chronic stable heart failure should undergo natriuretic peptide testing. Third, considerations should be given to treat selected patients with heart failure and preserved systolic function with a mineralocorticoid receptor antagonist and to treat patients with heart failure and reduced ejection fraction with an angiotensin receptor/neprilysin inhibitor, when the drug is approved. As with updates in previous years, the topics were chosen in response to stakeholder feedback. The 2014 Update includes recommendations, values and preferences, and practical tips to assist the clinicians and health care workers to best manage patients with heart failure. PMID:25532421

  15. Severe Respiratory Distress in a Child with Pulmonary Idiopathic Hemosiderosis Initially Presenting with Iron-Deficiency Anemia

    PubMed Central

    Potalivo, A.; Finessi, L.; Facondini, F.; Lupo, A.; Andreoni, C.; Giuliani, G.; Cavicchi, C.

    2015-01-01

    Idiopathic pulmonary hemosiderosis (IPH) is a rare cause of alveolar hemorrhage in children but should be considered in children with anemia of unknown origin who develop respiratory complications. It is commonly characterized by the triad of recurrent hemoptysis, diffuse parenchymal infiltrates, and iron-deficiency anemia. Pathogenesis is unclear and diagnosis may be difficult along with a variable clinical course. A 6-year-old boy was admitted to the hospital with a severe iron-deficiency anemia, but he later developed severe acute respiratory failure and hemoptysis requiring intubation and mechanical ventilation. The suspicion of IPH led to the use of immunosuppressive therapy with high dose of corticosteroids with rapid improvement in clinical condition and discharge from hospital. PMID:26634166

  16. Avoidance of Blood Transfusion to Patients Suffering From Myocardial Injury and Severe Anemia Is Associated With Increased Long-Term Mortality

    PubMed Central

    Barbarova, Irina; Klempfner, Robert; Rapoport, Avigal; Wasserstrum, Yishay; Goren, Idan; Kats, Ana; Segal, Gad

    2015-01-01

    Abstract Myocardial injury and anemia are common among patients in internal medicine departments. Nevertheless, the level of anemia in which blood should be given to these patients is ill defined. We conducted a retrospective, cohort analysis. A total of 209 patients hospitalized to internal medicine, with myocardial injury (troponin I?>?0.2?mcg/L, not diagnosed as ACS, acute coronary syndrome) and anemia (Hb?anemia (Hb?anemia was not associated with increased long-term mortality in the whole cohort while survival of patients with severe anemia that were not transfused was significantly reduced compared to transfused patients (44% vs 80%; P?=?0.03). Mortality rates were similar for all patients with Hb???8?g/dL, regardless of transfusion (54% vs 49%; P?=?0.60). Consistently, lack of blood transfusion in patients with severe anemia was independently associated with a 2.27 (1.08–4.81) greater adjusted risk of all-cause mortality (P-value for interaction?=?0.04), whereas it did not significantly increase in patients with Hb???8?g/dL. Avoidance of blood transfusion is associated with unfavorable outcomes among patients with myocardial injury and severe anemia. PMID:26402836

  17. Iron-Hepcidin Dysmetabolism, Anemia and Renal Hypoxia, Inflammation and Fibrosis in the Remnant Kidney Rat Model

    PubMed Central

    Garrido, Patrícia; Ribeiro, Sandra; Fernandes, João; Vala, Helena; Bronze-da-Rocha, Elsa; Rocha-Pereira, Petronila; Belo, Luís; Costa, Elísio; Santos-Silva, Alice; Reis, Flávio

    2015-01-01

    Anemia is a common complication of chronic kidney disease (CKD) that develops early and its severity increases as renal function declines. It is mainly due to a reduced production of erythropoietin (EPO) by the kidneys; however, there are evidences that iron metabolism disturbances increase as CKD progresses. Our aim was to study the mechanisms underlying the development of anemia of CKD, as well as renal damage, in the remnant kidney rat model of CKD induced by 5/6 nephrectomy. This model of CKD presented a sustained degree of renal dysfunction, with mild and advanced glomerular and tubulointerstitial lesions. Anemia developed 3 weeks after nephrectomy and persisted throughout the protocol. The remnant kidney was still able to produce EPO and the liver showed an increased EPO gene expression. In spite of the increased EPO blood levels, anemia persisted and was linked to low serum iron and transferrin levels, while serum interleukin (IL)-6 and high sensitivity C-reactive protein (hs-CRP) levels showed the absence of systemic inflammation. The increased expression of duodenal ferroportin favours iron absorption; however, serum iron is reduced which might be due to iron leakage through advanced kidney lesions, as showed by tubular iron accumulation. Our data suggest that the persistence of anemia may result from disturbances in iron metabolism and by an altered activity/function of EPO as a result of kidney cell damage and a local inflammatory milieu, as showed by the increased gene expression of different inflammatory proteins in the remnant kidney. In addition, this anemia and the associated kidney hypoxia favour the development of fibrosis, angiogenesis and inflammation that may underlie a resistance to EPO stimuli and reduced iron availability. These findings might contribute to open new windows to identify putative therapeutic targets for this condition, as well as for recombinant human EPO (rHuEPO) resistance, which occurs in a considerable percentage of CKD patients. PMID:25867633

  18. Iron deficiency anemia is not a rare problem among women of reproductive ages in Ethiopia: a community based cross sectional study

    PubMed Central

    Haidar, Jemal A; Pobocik, Rebecca S

    2009-01-01

    Background In Ethiopia, the existence of iron deficiency anemia is controversial despite the fact that Ethiopia is one of the least developed in Africa with a high burden of nutrient deficiencies. Methods The first large nutrition study of a representative sample of women in Ethiopia was conducted from June to July 2005 and a systematically selected sub-sample of 970 of these subjects, 15 to 49 years old, were used in this analysis of nutritional anemia. Hemoglobin was measured from capillary blood using a portable HemoCue photometer. For serum ferritin, venous blood from antecubital veins was measured by an automated Elecsys 1020 using commercial kits. Diets were assessed via simplified food frequency questionnaire. The association of anemia to demographic and health variables was tested by chi-square and a stepwise backward logistic regression model was applied to test the significant associations observed in chi square tests. Results Mean hemoglobin ± SD was 11.5 ± 2.1 g/dL with a 29.4% prevalence of anemia. Mean serum ferritin was 58 ± 41.1 ug/L with a 32.1% prevalence of iron deficiency. The overall prevalence rate of iron deficiency anemia was 18.0%. Prevalence of anemia, iron deficiency, and iron deficiency anemia was highest among those 31-49 years old (p < 0.05). Intake of vegetables less than once a day and meat less than once a week was common and was associated with increased anemia (p = 0.001). Although the prevalence of anemia was slightly higher among women with parasitic infestation the difference was not significant (p = 0.9). Nonetheless, anemia was significantly higher in women with history of illness and the association was retained even when the variable was adjusted for its confounding effect in the logistic regression models (AOR = 0.3; 95%CI = 0.17 to 0.5) signifying that the most probable causes of anemia is nutrition related and to some extent chronic illnesses. Conclusion Moderate nutritional anemia in the form of iron deficiency anemia is a problem in Ethiopia and therefore, the need for improved supplementation to vulnerable groups is warranted to achieve the United Nation's Millennium Development Goals. Chronic illnesses are another important cause of anemia. PMID:19735547

  19. The erythroblastic island as an emerging paradigm in the anemia of inflammation.

    PubMed

    Hom, Jimmy; Dulmovits, Brian M; Mohandas, Narla; Blanc, Lionel

    2015-12-01

    Terminal erythroid differentiation occurs in the bone marrow, within specialized niches termed erythroblastic islands. These functional units consist of a macrophage surrounded by differentiating erythroblasts and have been described more than five decades ago, but their function in the pathophysiology of erythropoiesis has remained unclear until recently. Here we propose that the central macrophage in the erythroblastic island contributes to the pathophysiology of anemia of inflammation. After introducing erythropoiesis and the interactions between the erythroblasts and the central macrophage within the erythroblastic islands, we will discuss the immunophenotypic characterization of this specific subpopulation of macrophages. We will then integrate these concepts into the currently known pathophysiological drivers of anemia of inflammation and address the role of the central macrophage in this disorder. Finally, as a means of furthering our understanding of the various concepts, we will discuss the differences between murine and rat models with regard to developmental and stress erythropoiesis in an attempt to define a model system representative of human pathophysiology. PMID:26376896

  20. Assessing the sensitivity of human skin hyperspectral responses to increasing anemia severity levels

    NASA Astrophysics Data System (ADS)

    Baranoski, Gladimir V. G.; Dey, Ankita; Chen, Tenn F.

    2015-09-01

    Anemia is a prevalent medical condition that seriously affects millions of people all over the world. In many regions, not only its initial detection but also its monitoring are hindered by limited access to laboratory facilities. This situation has motivated the development of a wide range of optical devices and procedures to assist physicians in these tasks. Although noticeable progress has been achieved in this area, the search for reliable, low-cost, and risk-free solutions still continues, and the strengthening of the knowledge base about this disorder and its effects is essential for the success of these initiatives. We contribute to these efforts by closely examining the sensitivity of human skin hyperspectral responses (within and outside the visible region of the light spectrum) to reduced hemoglobin concentrations associated with increasing anemia severity levels. This investigation, which involves skin specimens with distinct biophysical and morphological characteristics, is supported by controlled in silico experiments performed using a predictive light transport model and measured data reported in the biomedical literature. We also propose a noninvasive procedure to be employed in the monitoring of this condition at the point-of-care.

  1. Design and Performance of a Low-Cost, Handheld Reader for Diagnosing Anemia in Blantyre, Malawi

    PubMed Central

    Bond, Meaghan; Mvula, Jessica; Molyneux, Elizabeth; Richards-Kortum, Rebecca

    2015-01-01

    Anemia, a condition characterized by insufficient hemoglobin, affects 56.2% of pregnant women and 66.1% of children under five in low-resource countries. Though hemoglobin concentration measurement is the most common laboratory test in the world, the high cost of disposables (>$1.00 per test in Malawi) limits its availability in these settings. We have demonstrated a spectrophotometric method that reduces the per-test cost of anemia diagnosis to under $0.01 by using chromatography paper as the only disposable. Improvements in the hand-held reader, including using laser modules and a reference photodiode, enabled repeatable results within and across devices. We evaluated this method by analyzing capillary blood samples from 70 patients in the pediatric ward of Queen Elizabeth Central Hospital, Blantyre, Malawi. ~90% of these samples were within 2 g/dL of the standard value, with higher accuracy on more anemic samples. Current work aims to improve this accuracy by converting the hemoglobin in the sample to the more stable form methemoglobin. PMID:25918750

  2. Interstitial lung disease associated with Equine Infectious Anemia Virus infection in horses

    PubMed Central

    2013-01-01

    EIA (Equine Infectious Anemia) is a blood-borne disease primarily transmitted by haematophagous insects or needle punctures. Other routes of transmission have been poorly explored. We evaluated the potential of EIAV (Equine Infectious Anemia Virus) to induce pulmonary lesions in naturally infected equids. Lungs from 77 EIAV seropositive horses have been collected in Romania and France. Three types of lesions have been scored on paraffin-embedded lungs: lymphocyte infiltration, bronchiolar inflammation, and thickness of the alveolar septa. Expression of the p26 EIAV capsid (CA) protein has been evaluated by immunostaining. Compared to EIAV-negative horses, 52% of the EIAV-positive horses displayed a mild inflammation around the bronchioles, 22% had a moderate inflammation with inflammatory cells inside the wall and epithelial bronchiolar hyperplasia and 6.5% had a moderate to severe inflammation, with destruction of the bronchiolar epithelium and accumulation of smooth muscle cells within the pulmonary parenchyma. Changes in the thickness of the alveolar septa were also present. Expression of EIAV capsid has been evidenced in macrophages, endothelial as well as in alveolar and bronchiolar epithelial cells, as determined by their morphology and localization. To summarize, we found lesions of interstitial lung disease similar to that observed during other lentiviral infections such as FIV in cats, SRLV in sheep and goats or HIV in children. The presence of EIAV capsid in lung epithelial cells suggests that EIAV might be responsible for the broncho-interstitial damages observed. PMID:24289102

  3. Codanin-1 mutations in congenital dyserythropoietic anemia type 1 affect HP1{alpha} localization in erythroblasts.

    PubMed

    Renella, Raffaele; Roberts, Nigel A; Brown, Jill M; De Gobbi, Marco; Bird, Louise E; Hassanali, Tasneem; Sharpe, Jacqueline A; Sloane-Stanley, Jacqueline; Ferguson, David J P; Cordell, Jacqueline; Buckle, Veronica J; Higgs, Douglas R; Wood, William G

    2011-06-23

    Congenital dyserythropoietic anemia type 1 (CDA-1), a rare inborn anemia characterized by abnormal chromatin ultrastructure in erythroblasts, is caused by abnormalities in codanin-1, a highly conserved protein of unknown function. We have produced 3 monoclonal antibodies to codanin-1 that demonstrate its distribution in both nucleus and cytoplasm by immunofluorescence and allow quantitative measurements of patient and normal material by Western blot. A detailed analysis of chromatin structure in CDA-1 erythroblasts shows no abnormalities in overall histone composition, and the genome-wide epigenetic landscape of several histone modifications is maintained. However, immunofluorescence analysis of intermediate erythroblasts from patients with CDA-1 reveals abnormal accumulation of HP1? in the Golgi apparatus. A link between mutant codanin-1 and the aberrant localization of HP1? is supported by the finding that codanin-1 can be coimmunoprecipitated by anti-HP1? antibodies. Furthermore, we show colocalization of codanin-1 with Sec23B, the protein defective in CDA-2 suggesting that the CDAs might be linked at the molecular level. Mice containing a gene-trapped Cdan1 locus demonstrate its widespread expression during development. Cdan1(gt/gt) homozygotes die in utero before the onset of primitive erythropoiesis, suggesting that Cdan1 has other critical roles during embryogenesis. PMID:21364188

  4. A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.

    PubMed

    Samkari, Ayman; Borzutzky, Arturo; Fermo, Elisa; Treaba, Diana O; Dedeoglu, Fatma; Altura, Rachel A

    2010-04-01

    Mevalonate kinase deficiency (MKD) is a rare inborn error of metabolism caused by mutations in the mevalonate kinase (MVK) gene. The clinical phenotype is variable, ranging from the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) to mevalonic aciduria (MA), a severe metabolic disease. We report here for the first time (to our knowledge) the case of a patient with MKD and congenital dyserythropoietic anemia. Clinical and laboratory characteristics of inflammatory attacks were compatible with HIDS, but mild dysmorphic features and elevated urinary mevalonic acid levels in the absence of an inflammatory attack suggested an intermediate phenotype between HIDS and MA. Genomic sequencing of the MVK gene revealed compound heterozygosity for a missense mutation previously described in MA (V310M) and a novel missense mutation (Y116H). By contrast, sequencing of the novel CDAII (SEC23B) gene revealed no mutations, suggesting that the bone marrow abnormalities were causally related to the MKD. Treatment with corticosteroids and colchicine directed at controlling the autoinflammatory disease resulted in improvement of the anemia. PMID:20194276

  5. Therapeutic impact of erythropoietin-encapsulated liposomes targeted to bone marrow on renal anemia.

    PubMed

    Miyazaki, Yuri; Taguchi, Kazuaki; Sou, Keitaro; Watanabe, Hiroshi; Ishima, Yu; Miyakawa, Toshikazu; Mitsuya, Hiroaki; Fukagawa, Masafumi; Otagiri, Masaki; Maruyama, Toru

    2014-11-01

    Bone marrow is a key element in the diagnosis of disorders of erythropoiesis, including anemia, and a potential target in their treatment. However, because efficient delivery of diagnostic and therapeutic agents to bone marrow is difficult, such delivery is achieved by administering drugs in large quantities that often have adverse effects. Here, we achieved selective delivery of recombinant human erythropoietin (rHuEPO) to bone marrow, via its encapsulation in liposomes with l-glutamic acid, N-(3-carboxy-1-oxopropyl)-, 1,5-dihexadecyl ester (SA) (liposome-EPO). The result, in a rabbit model of renal anemia, was a beneficial effect on hematopoiesis, better than with rHuEPO alone. Also, we determined that liposome-EPO delivery to bone marrow depended on specific uptake by bone marrow macrophages because of the presence of SA. These results indicate both that liposome-EPO is a new, promising erythropoietin-stimulating agent and that liposomes with SA have potential for diagnostic and therapeutic applications in diseases originating from bone marrow. PMID:25255196

  6. Treatment Options for Primary Autoimmune Hemolytic Anemia: A Short Comprehensive Review

    PubMed Central

    Salama, Abdulgabar

    2015-01-01

    Summary Until now, treatment of primary autoimmune hemolytic anemia of the warm type (wAIHA) is primarily based on immunosuppression. However, many patients do not respond adequately to treatment, and treated patients may develop severe side effects due to uncontrolled, mixed and/or long-lasting immunosuppression. Unfortunately, the newly used therapeutic monoclonal antibodies are unspecific and remain frequently ineffective. Thus, development of a specific therapy for AIHA is necessary. The ideal therapy would be the identification and elimination of the causative origin of autoimmunization and/or the correction or reprogramming of the dysregulated immune components. Blood transfusion is the most rapidly effective measure for patients who develop or may develop hypoxic anemia. Although some effort has been made to guide physicians on how to adequately treat patients with AIHA, a number of individual aspects should be considered prior to treatment. Based on my serological and clinical experience and the analysis of evidence-based studies, we remain far from any optimized therapeutic measures for all AIHA patients. Today, the old standard therapy using controlled steroid administration, with or without azathioprine or cyclophosphamide, is, when complemented with erythropoiesis-stimulating agents, still the most effective therapy in wAIHA. Rituximab or other monoclonal antibodies may be used instead of splenectomy in therapy-refractory patients. PMID:26696797

  7. Exploiting Pre-rRNA Processing in Diamond Blackfan Anemia Gene Discovery and Diagnosis

    PubMed Central

    Farrar, Jason E.; Quarello, Paola; Fisher, Ross; O’Brien, Kelly A.; Aspesi, Anna; Parrella, Sara; Henson, Adrianna L.; Seidel, Nancy E.; Atsidaftos, Eva; Prakash, Supraja; Bari, Shahla; Garelli, Emanuela; Arceci, Robert J.; Dianzani, Irma; Ramenghi, Ugo; Vlachos, Adrianna; Lipton, Jeffrey M.; Bodine, David M.; Ellis, Steven R.

    2014-01-01

    Diamond Blackfan anemia (DBA), a syndrome primarily characterized by anemia and physical abnormalities, is one among a group of related inherited bone marrow failure syndromes (IBMFS) which share overlapping clinical features. Heterozygous mutations or single-copy deletions have been identified in 12 ribosomal protein genes in approximately 60% of DBA cases, with the genetic etiology unexplained in most remaining patients. Unlike many IBMFS, for which functional screening assays complement clinical and genetic findings, suspected DBA in the absence of typical alterations of the known genes must frequently be diagnosed after exclusion of other IBMFS. We report here a novel deletion in a child that presented such a diagnostic challenge and prompted development of a novel functional assay that can assist in the diagnosis of a significant fraction of patients with DBA. The ribosomal proteins affected in DBA are required for pre-rRNA processing, a process which can be interrogated to monitor steps in the maturation of 40S and 60S ribosomal subunits. In contrast to prior methods used to assess pre-rRNA processing, the assay reported here, based on capillary electrophoresis measurement of the maturation of rRNA in pre-60S ribosomal subunits, would be readily amenable to use in diagnostic laboratories. In addition to utility as a diagnostic tool, we applied this technique to gene discovery in DBA, resulting in the identification of RPL31 as a novel DBA gene. PMID:25042156

  8. The Ribosomal Basis of Diamond-Blackfan Anemia: Mutation and Database Update

    PubMed Central

    Boria, Ilenia; Garelli, Emanuela; Gazda, Hanna T.; Aspesi, Anna; Quarello, Paola; Pavesi, Elisa; Ferrante, Daniela; Meerpohl, Joerg J.; Kartal, Mutlu; Da Costa, Lydie; Proust, Alexis; Leblanc, Thierry; Simansour, Maud; Dahl, Niklas; Fröjmark, Anne-Sophie; Pospisilova, Dagmar; Cmejla, Radek; Beggs, Alan H.; Sheen, Mee R.; Landowski, Michael; Buros, Christopher M.; Clinton, Catherine M.; Dobson, Lori J.; Vlachos, Adrianna; Atsidaftos, Eva; Lipton, Jeffrey M.; Ellis, Steven R.; Ramenghi, Ugo; Dianzani, Irma

    2011-01-01

    Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. By means of a large collaboration among six centers, we report here a mutation update that includes nine genes and 220 distinct mutations, 56 of which are new. The DBA Mutation Database now includes data from 355 patients. Of those where inheritance has been examined, 125 patients carry a de novo mutation and 72 an inherited mutation. Mutagenesis may be ascribed to slippage in 65.5% of indels, whereas CpG dinucleotides are involved in 23% of transitions. Using bioinformatic tools we show that gene conversion mechanism is not common in RP genes mutagenesis, notwithstanding the abundance of RP pseudogenes. Genotype–phenotype analysis reveals that malformations are more frequently associated with mutations in RPL5 and RPL11 than in the other genes. All currently reported DBA mutations together with their functional and clinical data are included in the DBA Mutation Database. PMID:20960466

  9. Methoxy polyethylene glycol-epoetin beta for the treatment of anemia associated with chronic renal failure.

    PubMed

    Schmid, Holger

    2016-01-01

    Since more than two decades erythropoiesis-stimulating agents are the main pillar for treatment of anemia associated with chronic kidney disease. Methoxy polyethylene glycol-epoetin beta (MPG-EPO), also called continuous erythropoietin receptor activator, is the longest acting erythropoiesis-stimulating agent currently available. MPG-EPO is characterized by an elimination half-life of approximately 137 h and offers extended dosing intervals up to 4 weeks. Numerous phase I/II studies and a comprehensive clinical phase III program demonstrated the feasibility of MPG-EPO therapy for anemia correction and maintenance of stable hemoglobin levels in adult chronic kidney disease patients. Due to patent disputes MPG-EPO was only available outside the US market so far. In view of a prevailing US market introduction, this review focuses on efficacy and safety data from pivotal trials, summarizes recent clinical research and finally tries to substantiate potential benefits associated with the use of this anti-anemic drug. PMID:26573694

  10. Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome.

    PubMed

    Kulasekararaj, Austin G; Jiang, Jie; Smith, Alexander E; Mohamedali, Azim M; Mian, Syed; Gandhi, Shreyans; Gaken, Joop; Czepulkowski, Barbara; Marsh, Judith C W; Mufti, Ghulam J

    2014-10-23

    The distinction between acquired aplastic anemia (AA) and hypocellular myelodysplastic syndrome (hMDS) is often difficult, especially nonsevere AA. We postulated that somatic mutations are present in a subset of AA, and predict malignant transformation. From our database, we identified 150 AA patients with no morphological evidence of MDS, who had stored bone marrow (BM) and constitutional DNA. We excluded Fanconi anemia, mutations of telomere maintenance, and a family history of BM failure (BMF) or cancer. The initial cohort of 57 patients was screened for 835 known genes associated with BMF and myeloid cancer; a second cohort of 93 patients was screened for mutations in ASXL1, DNMT3A, BCOR, TET2, and MPL. Somatic mutations were detected in 19% of AA, and included ASXL1 (n = 12), DNMT3A (n = 8) and BCOR (n = 6). Patients with somatic mutations had a longer disease duration (37 vs 8 months, P < .04), and shorter telomere lengths (median length, 0.9 vs 1.1, P < .001), compared with patients without mutations. Somatic mutations in AA patients with a disease duration of >6 months were associated with a 40% risk of transformation to MDS (P < .0002). Nearly one-fifth of AA patients harbor mutations in genes typically seen in myeloid malignancies that predicted for later transformation to MDS. PMID:25139356

  11. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

    PubMed

    Zivná, Martina; H?lková, Helena; Matignon, Marie; Hodanová, Katerina; Vylet'al, Petr; Kalbácová, Marie; Baresová, Veronika; Sikora, Jakub; Blazková, Hana; Zivný, Jan; Ivánek, Robert; Stránecký, Viktor; Sovová, Jana; Claes, Kathleen; Lerut, Evelyne; Fryns, Jean-Pierre; Hart, P Suzanne; Hart, Thomas C; Adams, Jeremy N; Pawtowski, Audrey; Clemessy, Maud; Gasc, Jean-Marie; Gübler, Marie-Claire; Antignac, Corinne; Elleder, Milan; Kapp, Katja; Grimbert, Philippe; Bleyer, Anthony J; Kmoch, Stanislav

    2009-08-01

    Through linkage analysis and candidate gene sequencing, we identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin. Both mutations decrease signal sequence hydrophobicity and are predicted by bioinformatic analyses to damage targeting and cotranslational translocation of preprorenin into the endoplasmic reticulum (ER). Transfection and in vitro studies confirmed that both mutations affect ER translocation and processing of nascent preprorenin, resulting either in reduced (p.Leu16del) or abolished (p.Leu16Arg) prorenin and renin biosynthesis and secretion. Expression of renin and other components of the renin-angiotensin system was decreased accordingly in kidney biopsy specimens from affected individuals. Cells stably expressing the p.Leu16del protein showed activated ER stress, unfolded protein response, and reduced growth rate. It is likely that expression of the mutant proteins has a dominant toxic effect gradually reducing the viability of renin-expressing cells. This alters the intrarenal renin-angiotensin system and the juxtaglomerular apparatus functionality and leads to nephron dropout and progressive kidney failure. Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure. PMID:19664745

  12. Treatment Options for Primary Autoimmune Hemolytic Anemia: A Short Comprehensive Review.

    PubMed

    Salama, Abdulgabar

    2015-09-01

    Until now, treatment of primary autoimmune hemolytic anemia of the warm type (wAIHA) is primarily based on immunosuppression. However, many patients do not respond adequately to treatment, and treated patients may develop severe side effects due to uncontrolled, mixed and/or long-lasting immunosuppression. Unfortunately, the newly used therapeutic monoclonal antibodies are unspecific and remain frequently ineffective. Thus, development of a specific therapy for AIHA is necessary. The ideal therapy would be the identification and elimination of the causative origin of autoimmunization and/or the correction or reprogramming of the dysregulated immune components. Blood transfusion is the most rapidly effective measure for patients who develop or may develop hypoxic anemia. Although some effort has been made to guide physicians on how to adequately treat patients with AIHA, a number of individual aspects should be considered prior to treatment. Based on my serological and clinical experience and the analysis of evidence-based studies, we remain far from any optimized therapeutic measures for all AIHA patients. Today, the old standard therapy using controlled steroid administration, with or without azathioprine or cyclophosphamide, is, when complemented with erythropoiesis-stimulating agents, still the most effective therapy in wAIHA. Rituximab or other monoclonal antibodies may be used instead of splenectomy in therapy-refractory patients. PMID:26696797

  13. The genetics of hemoglobin A2 regulation in sickle cell anemia.

    PubMed

    Griffin, Paula J; Sebastiani, Paola; Edward, Heather; Baldwin, Clinton T; Gladwin, Mark T; Gordeuk, Victor R; Chui, David H K; Steinberg, Martin H

    2014-11-01

    Hemoglobin A2 , a tetramer of ?- and ?-globin chains, comprises less than 3% of total hemoglobin in normal adults. In northern Europeans, single nucleotide polymorphisms (SNPs) in the HBS1L-MYB locus on chromosome 6q and the HBB cluster on chromosome 11p were associated with HbA2 levels. We examined the genetic basis of HbA2 variability in sickle cell anemia using genome-wide association studies. HbA2 levels were associated with SNPs in the HBS1L-MYB interval and SNPs in BCL11A. These effects are mediated by the association of these loci with ?-globin gene expression and fetal hemoglobin (HbF) levels. The association of polymorphisms downstream of the ?-globin gene (HBB) cluster on chromosome 11 with HbA2 was not mediated by HbF. In sickle cell anemia, levels of HbA2 appear to be modulated by trans-acting genes that affect HBG expression and perhaps also elements within the ?-globin gene cluster. HbA2 is expressed pancellularly and can inhibit HbS polymerization. It remains to be seen if genetic regulators of HbA2 can be exploited for therapeutic purposes. PMID:25042611

  14. Interstitial lung disease in an adult with Fanconi anemia: Clues to the pathogenesis

    SciTech Connect

    Rubinstein, W.S.; Wenger, S.L.; Hoffman, R.M.

    1997-03-31

    We have studied a 38-year-old man with a prior diagnosis of Holt-Oram syndrome, who presented with diabetes mellitus. He had recently taken prednisone for idiopathic interstitial lung disease and trimethoprim-sulfamethoxazole for sinusitis. Thrombocytopenia progressed to pancytopenia. The patient had skeletal, cardiac, renal, cutaneous, endocrine, hepatic, neurologic, and hematologic manifestations of Fanconi anemia (FA). Chest radiographs showed increased interstitial markings at age 25, dyspnea began in his late 20s, and he stopped smoking at age 32. At age 38, computerized tomography showed bilateral upper lobe fibrosis, lower lobe honeycombing, and bronchiectasis. Pulmonary function tests, compromised at age 29, showed a moderately severe obstructive and restrictive pattern by age 38. Serum alpha-1 antitrypsin level was 224 (normal 85-213) mg/dL and PI phenotype was M1. Karyotype was 46,X-Y with a marked increase in chromosome aberrations induced in vitro by diepoxybutane. The early onset and degree of pulmonary disease in this patient cannot be fully explained by environmental or known genetic causes. The International Fanconi Anemia Registry (IFAR) contains no example of a similar pulmonary presentation. Gene-environment (ecogenetic) interactions in FA seem evident in the final phenotype. The pathogenic mechanism of lung involvement in FA may relate to oxidative injury and cytokine anomalies. 49 refs., 2 figs., 1 tab.

  15. Anti-CD20 treatment of giant cell hepatitis with autoimmune hemolytic anemia.

    PubMed

    Paganelli, Massimiliano; Patey, Natacha; Bass, Lee M; Alvarez, Fernando

    2014-10-01

    Giant cell hepatitis with autoimmune hemolytic anemia (GCH-AHA) is a rare autoimmune disease of infancy characterized by severe liver disease associated with Coombs-positive hemolytic anemia. We recently showed that GCH-AHA is probably caused by a humoral immune mechanism. Such data support the use of rituximab, an anti-CD-20 monoclonal antibody specifically targeting B lymphocytes, as a treatment for GCH-AHA. We describe here the detailed clinical evolution of 4 children with GCH-AHA who showed a complete response to rituximab. All patients shared a severe course of the disease with poor control on standard and aggressive immunosuppression. Rituximab was well tolerated, and no side effects or infections were registered. Several doses were needed to induce remission, and 5 to 11 additional maintenance injections were necessary in the 2 more severe cases. Weaning from corticosteroids was achieved in all subjects. A steroid-sparing effect was noted in the 3 children who started rituximab early in the course of the disease. Overall, we show here that there is a strong rationale for treating GCH-AHA with rituximab. Early treatment could reduce the use of corticosteroids. Nevertheless, short-term steroids should be initially associated with rituximab to account for autoantibodies' half-life. Repeated injections are needed to treat and prevent relapses, but the best frequency and duration of treatment remain to be defined. PMID:25201797

  16. Anemia as the sole presenting symptom of idiopathic pulmonary hemosiderosis: report of two cases.

    PubMed

    Chen, Kao-Chun; Hsiao, Chih-Cheng; Huang, Shun-Chen; Ko, Sheung-Fat; Niu, Chen-Kuang

    2004-11-01

    Idiopathic pulmonary hemosiderosis (IPH) is a rare disease in children and has an unknown etiology. It is characterized by the triad of hemoptysis, pulmonary infiltrates on chest radiograph (CXR) and iron deficiency anemia. We report two young children, aged 3 and 4 years, were admitted due to pale-looking appearance but without hemoptysis or other respiratory symptoms. Pallor was the sole presenting feature in these 2 children with IPH and which was unusual. CXR obtained on admission led to the suspicion of pulmonary hemorrhage. The diagnosis of IPH was confirmed based on the presence of many hemosiderin-laden macrophages in bronchoalveolar lavage fluid obtained by flexible bronchoscopy. Steroid was initiated after the diagnosis of IPH was established; the both of them have been well and received regular follow-up in our outpatient department. IPH may not be diagnosed because of difficulty in diagnosis. Anemia may be the only presenting feature of IPH, which was due to occult pulmonary hemorrhage. Initial treatment with corticosteroids has been successful in our patients for a period of 6 and 8 months of follow up respectively. PMID:15796258

  17. The Fanconi anemia proteins FANCD2 and FANCJ interact and regulate each other's chromatin localization.

    PubMed

    Chen, Xiaoyong; Wilson, James B; McChesney, Patricia; Williams, Stacy A; Kwon, Youngho; Longerich, Simonne; Marriott, Andrew S; Sung, Patrick; Jones, Nigel J; Kupfer, Gary M

    2014-09-12

    Fanconi anemia is a genetic disease resulting in bone marrow failure, birth defects, and cancer that is thought to encompass a defect in maintenance of genomic stability. Mutations in 16 genes (FANCA, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, and Q) have been identified in patients, with the Fanconi anemia subtype J (FA-J) resulting from homozygous mutations in the FANCJ gene. Here, we describe the direct interaction of FANCD2 with FANCJ. We demonstrate the interaction of FANCD2 and FANCJ in vivo and in vitro by immunoprecipitation in crude cell lysates and from fractions after gel filtration and with baculovirally expressed proteins. Mutation of the monoubiquitination site of FANCD2 (K561R) preserves interaction with FANCJ constitutively in a manner that impedes proper chromatin localization of FANCJ. FANCJ is necessary for FANCD2 chromatin loading and focus formation in response to mitomycin C treatment. Our results suggest not only that FANCD2 regulates FANCJ chromatin localization but also that FANCJ is necessary for efficient loading of FANCD2 onto chromatin following DNA damage caused by mitomycin C treatment. PMID:25070891

  18. Defective FANCI Binding by a Fanconi Anemia-Related FANCD2 Mutant

    PubMed Central

    Sato, Koichi; Ishiai, Masamichi; Takata, Minoru; Kurumizaka, Hitoshi

    2014-01-01

    FANCD2 is a product of one of the genes associated with Fanconi anemia (FA), a rare recessive disease characterized by bone marrow failure, skeletal malformations, developmental defects, and cancer predisposition. FANCD2 forms a complex with FANCI (ID complex) and is monoubiquitinated, which facilitates the downstream interstrand crosslink (ICL) repair steps, such as ICL unhooking and nucleolytic end resection. In the present study, we focused on the chicken FANCD2 (cFANCD2) mutant harboring the Leu234 to Arg (L234R) substitution. cFANCD2 L234R corresponds to the human FANCD2 L231R mutation identified in an FA patient. We found that cFANCD2 L234R did not complement the defective ICL repair in FANCD2?/? DT40 cells. Purified cFANCD2 L234R did not bind to chicken FANCI, and its monoubiquitination was significantly deficient, probably due to the abnormal ID complex formation. In addition, the histone chaperone activity of cFANCD2 L234R was also defective. These findings may explain some aspects of Fanconi anemia pathogenesis by a FANCD2 missense mutation. PMID:25489943

  19. Benefits of kinesiotherapy and aquatic rehabilitation on sickle cell anemia. A case report.

    PubMed

    Tinti, G; Somera, R; Valente, F M; Domingos, C R B

    2010-01-01

    The process of hemoglobin polymerization and the consequent sickling of red blood cells that occurs in patients with sickle cell disease shortens the half-life of red blood cells. It causes vaso-occlusive complications, as well as pain and pulmonary and cardiovascular dysfunction. We evaluated an aquatic rehabilitation program used for patients with sickle cell anemia and examined the possible benefits that exercise in warm water has for the circulatory system, for relieving pain, and for increasing lung capacity. The patient was a 32-year-old female. The parameters that we used in this study include respiratory muscle strength (which was calculated by measuring maximum inspiratory pressures and maximum expiratory pressures), the McGill and Wisconsin pain questionnaires (in order to evaluate the patients' characterizations and descriptions of their pain), and the SF-36 Health Survey. The treatment included warm water exercises, stretching, aerobic exercise, and relaxation, during two sessions of 45 min per week for 5 weeks. The patient experienced a significant decrease in pain, a significant increase in the strength of respiratory muscles, and improved quality of life. We conclude that aquatic rehabilitation can be used to improve the clinical condition of sickle cell anemia patients, and we encourage more research on this new treatment regime, in comparison with other types of therapies. PMID:20309822

  20. Percutaneous Glue Embolization of a Visceral Artery Pseudoaneurysm in a Case of Sickle Cell Anemia

    SciTech Connect

    Gulati, Gurpreet S.; Gulati, Manpreet S. Makharia, Govind; Hatimota, Pradeep; Saikia, Nripen; Paul, Shashi B.; Acharya, Subrat

    2006-08-15

    Although aneurysmal complications of sickle cell anemia have been described in the intracranial circulation, visceral artery pseudoaneurysms in this disease entity have not previously been reported in the literature. Conventional treatment of visceral pseudoaneurysms has been surgical ligation or resection of the aneurysm. Transcatheter embolization has emerged as an attractive, minimally invasive alternative to surgery in the treatment of these lesions. In certain situations, however, due to the unfavorable angiographic anatomy precluding safe transcatheter embolization, direct percutaneous glue injection of the pseudoaneurysm sac may be considered to achieve successful occlusion of the sac. The procedure may be rendered safer by simultaneous balloon protection of the parent artery. We describe this novel treatment modality in a case of inferior pancreaticoduodenal artery pseudoaneurysm in a patient with sickle cell anemia. Although a complication in the form of glue reflux into the parent vessel occurred that necessitated surgery, this treatment modality may be used in very selected cases (where conventional endovascular embolization techniques are not applicable) after careful selection of the balloon diameter and appropriate concentration of the glue-lipiodol mixture.

  1. Aplastic anemia

    MedlinePLUS

    ... an increased risk of infection. Low platelet count (thrombocytopenia) can result in bleeding. Symptoms include: Bleeding gums ... are immature red blood cell) Low platelet count (thrombocytopenia) A bone marrow biopsy shows fewer-than-normal ...

  2. Fanconi anemia

    MedlinePLUS

    ... matching bone-marrow donors) Ultrasound of the kidneys Pregnant women may have amniocentesis or chorionic villous sampling to ... cancer of the head, neck, or urinary system. Women with Fanconi ... become pregnant should be watched carefully by a doctor. Such ...

  3. Fanconi Anemia

    MedlinePLUS

    ... children may have serious health and developmental problems. Bone Marrow and Blood Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three ...

  4. The effects of the anti-hepcidin Spiegelmer NOX-H94 on inflammation-induced anemia in cynomolgus monkeys

    PubMed Central

    Schwoebel, Frank; van Eijk, Lucas T.; Zboralski, Dirk; Sell, Simone; Buchner, Klaus; Maasch, Christian; Purschke, Werner G.; Humphrey, Martin; Zöllner, Stefan; Eulberg, Dirk; Morich, Frank; Pickkers, Peter; Klussmann, Sven

    2013-01-01

    Anemia of chronic inflammation is the most prevalent form of anemia in hospitalized patients. A hallmark of this disease is the intracellular sequestration of iron. This is a consequence of hepcidin-induced internalization and subsequent degradation of ferroportin, the hepcidin receptor and only known iron-export protein. This study describes the characterization of novel anti-hepcidin compound NOX-H94, a structured L-oligoribonucleotide that binds human hepcidin with high affinity (Kd = 0.65 ± 0.06 nmol/L). In J774A.1 macrophages, NOX-H94 blocked hepcidin-induced ferroportin degradation and ferritin expression (half maximal inhibitory concentration = 19.8 ± 4.6 nmol/L). In an acute cynomolgus monkey model of interleukin 6 (IL-6)–induced hypoferremia, NOX-H94 inhibited serum iron reduction completely. In a subchronic model of IL-6–induced anemia, NOX-H94 inhibited the decrease in hemoglobin concentration. We conclude that NOX-H94 protects ferroportin from hepcidin-induced degradation. Therefore, this pharmacologic approach may represent an interesting treatment option for patients suffering from anemia of chronic inflammation. PMID:23349391

  5. Pattern of hemolysis parameters and association with fetal hemoglobin in sickle cell anemia patients in steady state

    PubMed Central

    Moreira, Juliane Almeida; Laurentino, Marília Rocha; Machado, Rosângela Pinheiro Gonçalves; Barbosa, Maritza Cavalcante; Gonçalves, Ronaldo Pinheiro; Mota, Amanda de Menezes; Rocha, Lilianne Brito da Silva; Martins, Alice Maria Costa; de Lima Arruda, Alcínia Braga; de Souza, Iêda Pereira; Gonçalves, Romélia Pinheiro

    2015-01-01

    Objective This study aimed to evaluate the influence of fetal hemoglobin (Hb F) on hemolysis biomarkers in sickle cell anemia patients. Methods Fifty adult sickle cell anemia patients were included in the study. All patients were taking hydroxyurea for at least six months and were followed at the outpatient clinic of a hospital in Fortaleza, Ceará, Brazil. The control group consisted of 20 hemoglobin AA individuals. The reticulocyte count was performed by an automated methodology, lactate dehydrogenase and uric acid were measured by spectrophotometry and arginase I by enzyme-linked immunosorbent assay (ELISA). The presence of Hb S was detected by high-performance liquid chromatography. The level of significance was set for a p-value <0.05. Results A significant increase was observed in the reticulocyte count and lactate dehydrogenase, uric acid and arginase I levels in sickle cell anemia patients compared to the control group (p-value <0.05). Patients having Hb F levels greater than 10% showed a significant decrease in the reticulocyte count, arginase I and lactate dehydrogenase. A significant decrease was observed in arginase I levels in patients taking hydroxyurea at a dose greater than 20 mg/kg/day. Conclusion The results of this study show that sickle cell anemia patients have increases in the hemolysis biomarkers, lactate dehydrogenase, reticulocyte count, arginase I, uric acid and increases in Hb F can reduce the reticulocyte count and arginase I and lactate dehydrogenase levels. PMID:26041418

  6. INFLUENCE OF VITAMIN A-RICH MEALS ON THE ANEMIA AND IRON STATUS OF FILIPINO SCHOOLCHILDREN IN BAGAC, BATAAN

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Complex relationships exist between vitamin A status and iron status. We studied the influence of vitamin A-rich meals on the anemia and iron status of 116 schoolchildren, aged 9-11 years, in the rural community of Bagac, Bataan, Philippines. The schoolchildren were fed 3 meals a day, 5 days a week...

  7. Effect of Pretreatment Anemia on Treatment Outcome of Concurrent Radiochemotherapy in Patients With Head and Neck Cancer

    SciTech Connect

    Fortin, Andre Wang Changshu; Vigneault, Eric

    2008-09-01

    Purpose: To investigate the effect of anemia on outcome of treatment with radiochemotherapy in patients with head-and-neck cancer. Methods and Materials: The data of 196 patients with Stage II-IV head-and-neck cancer treated with concomitant cisplatin-based radiochemotherapy were retrospectively reviewed. Anemia was defined according to World Health Organization criteria as hemoglobin <130 g/L in men and <120 g/L in women. Results: Fifty-three patients were classified as anemic, 143 as nonanemic. The 3-year local control rate of anemic and nonanemic patients was 72% and 85%, respectively (p = 0.01). The 3-year overall survival rate of anemic and nonanemic patients was 52% and 77%, respectively (p = 0.004). In multivariate analysis, anemia was the most significant predictor of local control (hazard ratio, 0.37, p = 0.009) and survival (hazard ratio, 0.47, p = 0.007). A dose-effect relationship was also found for local control (p = .04) and survival (0.04) when grouping by hemoglobin concentration: <120, 120-140, and >140 g/L. Conclusions: Anemia was strongly associated with local control and survival in this cohort of patients with head-and-neck cancer receiving radiochemotherapy.

  8. Influence of laser and LED irradiation on mast cells of cutaneous wounds of rats with iron deficiency anemia

    NASA Astrophysics Data System (ADS)

    Becher Rosa, Cristiane; Oliveira Sampaio, Susana C. P.; Monteiro, Juliana S. C.; Ferreira, Maria F. L.; Zanini, Fátima A. A.; Santos, Jean N.; Cangussú, Maria Cristina T.; Pinheiro, Antonio L. B.

    2011-03-01

    This work aimed to study histologically the effect of Laser or LED phototherapy on mast cells on cutaneous wounds of rats with iron deficiency. 18 rats were used and fed with special peleted iron-free diet. An excisional wound was created on the dorsum of each animal which were divided into: Group I - Control with anemia + no treatment; Group II - Anemia + Laser; Group III - Anemia + LED; Group IV - Healthy + no treatment; Group V - Healthy + Laser; Group VI - Healthy + LED. Irradiation was performed using a diode Laser (?660nm, 40mW, CW, total dose of 10J/cm2, 4X2.5J/cm2) or a RED-LED ( ?700nm, 15mW, CW, total dose of 10J/cm2). Histological specimens were routinely processed, cut and stained with toluidine blue and mast cell counts performed. No significant statistic difference was found between groups as to the number of degranulated, non-degradulated or total mast cells. Greater mean values were found for degranulated mast cells in the Anemia + LED. LED irradiation on healthy specimens resulted in a smaller number of degranulated mast cells. Our results leads to conclude that there are no significant differences in the number of mast cells seven days after irradiation following Laser or LED phototherapy.

  9. Iron status of channel catfish Ictalurus punctatus affected by channel catfish anemia and response to parenteral iron

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Originally reported in 1983, channel catfish anemia (CCA), also ‘white lip’ or ‘no blood,’ is a major idiopathic disease affecting commercial production in the Mississippi Delta region of the USA. Affected individuals are characterized by lethargy, anorexia, extreme pallor, and packed cell volumes o...

  10. Folate–vitamin B-12 interaction in relation to cognitive impairment, anemia, and biochemical indicators of vitamin B-12 deficiency

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Previous reports on pernicious anemia treatment suggested that high folic acid intake adversely influences the natural history of vitamin B-12 deficiency, which affects many elderly individuals. However, experimental investigation of this hypothesis is unethical, and the few existing observational d...

  11. Addressing Nature of Science Core Tenets with the History of Science: An Example with Sickle-Cell Anemia & Malaria

    ERIC Educational Resources Information Center

    Howe, Erica M.

    2007-01-01

    The history of science (HOS) has proven to be a useful pedagogical tool to help students learn about what has come to be regarded as an agreed upon set of core nature of science (NOS) tenets. The following article illustrates an example of how teachers can instrumentally use the history of research on heterozygote protection in sickle-cell anemia

  12. Using the History of Research on Sickle Cell Anemia to Affect Preservice Teachers' Conceptions of the Nature of Science.

    ERIC Educational Resources Information Center

    Howe, Eric M.

    This paper examines how using a series of lessons developed from the history of research on sickle cell anemia affects preservice teacher conceptions of the nature of science (NOS). The importance of a pedagogy that has students do science through an integral use of the history of science is effective at enriching students' NOS views is presented.…

  13. Iron Deficiency Anemia in Relation to Respiratory Disease and Social Behaviors In Low-Income Infants in France.

    ERIC Educational Resources Information Center

    Honig, Alice Sterling

    1993-01-01

    Examined a sample of 177 infants (age 9 through 12 months) with iron deficiency anemia (IDA) from low-income French, African, and North African Muslim families in Paris. Found a higher than normal incidence of otitis media and respiratory diseases such as bronchitis among the infants. Also examined the relationship between infant IDA and child…

  14. Zinc-induced hemolytic anemia in a dog caused by ingestion of a game-playing die

    PubMed Central

    Clancey, Noel P.; Murphy, Megan C.

    2012-01-01

    A 16-month-old spayed female mixed breed dog was presented with a 1-week history of anorexia, lethargy, diarrhea, vomiting, and difficulty rising. Hematologic evaluation indicated a marked macrocytic hypo-chromic, markedly regenerative anemia. A metallic foreign object in the gastrointestinal tract was identified on abdominal radiographs. Serum zinc concentration was markedly increased. PMID:23024383

  15. Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

    PubMed

    Setoodeh, Aria; Haghighi, Amirreza; Saleh-Gohari, Nasrollah; Ellard, Sian; Haghighi, Alireza

    2013-05-01

    Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive syndrome characterized by early-onset anemia, diabetes, and hearing loss caused by mutations in the SLC19A2 gene. We studied the genetic cause and clinical features of this condition in patients from the Persian population. A clinical and molecular investigation was performed in four patients from three families and their healthy family members. All had the typical diagnostic criteria. The onset of hearing loss in three patients was at birth and one patient also had a stroke and seizure disorder. Thiamine treatment effectively corrected the anemia in all of our patients but did not prevent hearing loss. Diabetes was improved in one patient who presented at the age of 8months with anemia and diabetes after 2months of starting thiamine. The coding regions of SLC19A2 were sequenced in all patients. The identified mutation was tested in all members of the families. Molecular analyses identified a homozygous nonsense mutation c.697C>T (p.Gln233*) as the cause of the disease in all families. This mutation was previously reported in a Turkish patient with TRMA and is likely to be a founder mutation in the Persian population. PMID:23454484

  16. Vitamin B12 and Vitamin D Deficiencies: An Unusual Cause of Fever, Severe Hemolytic Anemia and Thrombocytopenia

    PubMed Central

    Mishra, Vikas A.; Harbada, Rishit; Sharma, Akhilesh

    2015-01-01

    The array of diagnostic workup for pyrexia of unknown origin (PUO) generally revolves in searching for infections, inflammatory/autoimmune, and endocrine etiologies. A differential diagnosis of fever, hemolytic anemia, and thrombocytopenia can have etiologies varying from infections like malaria, dengue, cytomegalovirus, Ebstein barr virus, Parvovirus, infective endocarditis, to autoimmune disorder (systemic lupus erythromatosis), vasculitis, hemolytic uremic syndrome, thrombotic thrombocytopenic purpura (TTP), autoimmune hemolytic anemia/Evan's syndrome, paroxysmal nocturnal hemoglobinuri (PNH), or drugs. Nutritional deficiencies (especially vitamin B12 deficiency) as a cause of fever, hemolytic anemia, and thrombocytopenia are very rare and therefore rarely thought of. Severe vitamin B12 deficiency may cause fever and if accompanied by concurrent hyper-homocysteinemia and hypophosphatemia can sometimes lead to severe hemolysis mimicking the above-mentioned conditions. We present a case that highlights vitamin B12 and vitamin D deficiency as an easily treatable cause of PUO, hemolytic anemia, and thrombocytopenia, which should be actively looked for and treated before proceeding with more complicated and expensive investigation or starting empiric treatments. PMID:25811010

  17. Comparisons of anemia, thrombocytopenia, and neutropenia at initiation of HIV antiretroviral therapy in Africa, Asia, and the Americas

    PubMed Central

    Firnhaber, Cynthia; Smeaton, Laura; Saukila, Nasinuku; Flanigan, Timothy; Gangakhedkar, Raman; Kumwenda, Johnstone; La Rosa, Alberto; Kumarasamy, Nagalingeswaran; De Gruttola, Victor; Hakim, James Gita; Campbell, Thomas B.

    2010-01-01

    Summary Background Hematological abnormalities are common manifestations of advanced HIV-1 infection that could affect the outcomes of highly-active antiretroviral therapy (HAART). Although most HIV-1-infected individuals live in resource-constrained countries, there is little information about the frequency of hematological abnormalities such as anemia, neutropenia, and thrombocytopenia among individuals with advanced HIV-1 disease. Methods This study compared the prevalence of pre-antiretroviral therapy hematological abnormalities among 1571 participants in a randomized trial of antiretroviral efficacy in Africa, Asia, South America, the Caribbean, and the USA. Potential covariates for anemia, neutropenia, and thrombocytopenia were identified in univariate analyses and evaluated in separate multivariable models for each hematological condition. Results The frequencies of neutropenia (absolute neutrophil count ? 1.3 × 109/l), anemia (hemoglobin ? 10 g/dl), and thrombocytopenia (platelets ? 125 × 109/l) at initiation of antiretroviral therapy were 14%, 12%, and 7%, respectively, and varied by country (p < 0.0001 for each). In multivariable models, anemia was associated with gender, platelet count, and country; neutropenia was associated with CD4+ lymphocyte and platelet counts; and thrombocytopenia was associated with country, gender, and chronic hepatitis B infection. Conclusions Differences in the frequency of pretreatment hematological abnormalities could have important implications for the choice of antiretroviral regimen in resource-constrained settings. PMID:20961784

  18. Reliability of the dual-isotope Schilling test for the diagnosis of pernicious anemia or malabsorption syndrome

    SciTech Connect

    Domstad, P.A.; Choy, Y.C.; Kim, E.E.; DeLand, F.H.

    1981-05-01

    To evaluate the dual-isotope Schilling test for the diagnosis of pernicious anemia or malabsorption syndrome, 65 studies were selected for clinical correlation. Criteria for pernicious anemia included mean corpuscular volume greater than 100 cu micrometer, serum B12 greater than 100 ng/l, megaloblastic marrow, achlorhydria, reticulocytes greater than 5% on B12 therapy, atrophic gastritis, and elevated serum antibodies to parietal cells or intrinsic factor. Criteria for malabsorption syndrome included: decreased serum B12, folate, and carotene; increased fecal fat; abnormal D-xylose absorption; abnormal radiographic and biopsy findings. /sup 58/Co-cyanocobalamin and /sup 57/Co-cyanocobalamin bound to intrinsic factor were given orally to fasting patients; 1 mg of nonradioactive B12 was injected intramuscularly within two hours. Aliquots of 24-hour urine samples were counted. If the excretion of /sup 58/Co was less than 7% and the /sup 57/Co//sup 58/Co ratio was greater than 1.7, the test indicated pernicious anemia; a ratio less than 1.7 indicated malabsorption syndrome. Sensitivity, specificity, and accuracy of the dual-isotope Schilling test were 83%, 98%, and 94% for pernicious anemia, and 67%, 90%, and 86% for malabsorption syndrome, respectively.

  19. Influence of ?S-globin haplotypes and hydroxyurea on tumor necrosis factor-alpha levels in sickle cell anemia

    PubMed Central

    Laurentino, Marília Rocha; Maia, Pedro Aurio; Barbosa, Maritza Cavalcante; Bandeira, Izabel Cristina Justino; Rocha, Lilianne Brito da Silva; Gonçalves, Romelia Pinheiro

    2014-01-01

    Background: Sickle cell anemia is a chronic inflammatory disease characterized by an increased production of proinflammatory cytokines including tumor necrosis factor-alpha. Hydroxyurea, by decreasing the polymerization of hemoglobin, reduces inflammatory states. The effect of the genetic polymorphisms of sickle cell patients on tumor necrosis factor-alpha levels remains unknown. Objective: The aim of this study was to investigate the association of tumor necrosis factor-alpha levels with ?-globin haplotypes and the use of hydroxyurea. Methods: A cross-sectional study was performed of 67 patients with sickle cell anemia diagnosed at steady-state in a referral hospital in Fortaleza, Ceará, Brazil. A group of 26 healthy individuals was used as control. ?S-haplotype analysis was performed by restriction fragment length polymorphism-polymerase chain reaction. The tumor necrosis factor-alpha levels were measured by the enzyme-linked immunosorbent assay test. Laboratory data (complete blood count and fetal hemoglobin) and information regarding the use of hydroxyurea were obtained from medical records. Statistical analysis was performed using R software with the Kruskal-Wallis and Mann-Whitney tests. Statistical significance was established for p-values < 0.05 for all analyses. Results: The mean age of the participants was 35.48 years. Patients with sickle cell anemia had significantly higher tumor necrosis factor-alpha levels than controls (p-values < 0.0001). Tumor necrosis factor-alpha levels were lower in sickle cell anemia patients who were receiving hydroxyurea treatment than those who were not (p-value = 0.1249). Sickle cell anemia patients with Bantu/n genotype had significantly higher levels than patients with the Bantu/Benin genotype (p-value = 0.0021). Conclusion: In summary, ?S-globin haplotypes, but not hydroxyurea therapy, have a role in modulating tumor necrosis factor-alpha levels in sickle cell anemia adults at steady-state. Many previous studies have investigated prognosis and inflammatory states in sickle cell anemia patients, but the discovery that tumor necrosis factor-alpha levels vary according to the genetic polymorphism of the patient is a new finding. PMID:24790537

  20. Study of anemia in adolescents female and effect information, education and communication in rural area of central Kathmandu Valley.

    PubMed

    Gupta, R K C; Ghimire, H P; Panta, P P

    2013-06-01

    Adolescence is a period of rapid change and opportunities. It is a coming up of age as children grow into young adults. It constitutes 10-19 yrs of age. In Nepal 23% of the population are adolescents. Across-sectional community based study was carried out in 3 schools in Jhaukhel (Bhaktapur) to determine the prevalence of anemia and the effect of IEC in female adolescents. Does IEC effect improve anemia rapidly. Two hundred four female school children were screened for Hemoglobin estimation by Simple Random Sampling method. Physical examination and nutritional assessment was also done. Hemoglobin estimation was done by Cynomethemoglobin method in their respective schools. Anemia was diagnosed according to WHO guidelines. IEC was given to all adolescents girls thrice in 1 month and again the effect of IEC was studied by estimating hemoglobin. Out of 204, 72 (35.3%) had anemia. Forty (34.2%) had anemia in the age group of 13-15 yrs, followed by 19 in age group 10-12 yrs and mild anemia was found in the age group 16-19 yrs. The adolescents girls whose parents were farmers and labourers were more anemic than others. Twelve (44.4%) maximum anemic girls were observed in those whose parental income was between NPRs 12000-16000. Out of 204 girls only 157 attained menarche. All girls 52 (33.1%) who attained menarche upto 13 yrs had more anemia than others of above 13 yrs of age group. The mean age at menarche was 13.05 yrs. The subjects exhibited increase in Hb significantly P value 0.000. Mean Hb before IEC was 12.26 (SD 1.43) and after IEC it was 12.81 (SD +/- 1.05). The Mean increase in percentage after IEC was 4.48 (SD +/- 9.68) in females. The Range was 20 to 41.18%. The Coefficient of relationship (Karl Pearson coefficient of correlation) between two Hb levels before and after giving IEC was 0.719, which is statistically significant with positive correlation (p = .000) and r2 = 0.516. It is represented as scattered diagram. PMID:24696933