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Congential dyserythropoietic anemia--type IV.  


Congenital dyserythropoietic anemia is characterized by ineffective erythropoiesis and increased numbers of multinucleated red cell precursors in the marrow. This syndrome has been subclassified on the basis of morphologic differences in the red cell precursors. Type I is characterized by megaloblastoid erythropoiesis and macrocytosis; Type II, by normoblastic multinuclearity and normocytosis; and Type III, by frequent giant multinucleated erythroblasts and macrocytes. Type II is further distinguished from the other types by serologic and ultrastructural abnormalities. The patient presented in this report does not fit any of the above categories; her red cells are similar to Type II congenital dyserythropoietic anemia cells, but no characteristic ultrastructural or serologic abnormalities are present. It is suggested that this patient may represent an additional variant of congenital dyserythropoietic anemia, Type IV. PMID:1097617

Benjamin, J T; Rosse, W F; Daldorf, F G; McMillan, C W



Congenital dyserythropoietic anemia type I: report of a case.  


The congenital dyserythropoietic anemias (CDAs) comprise a group of rare hereditary disorders of erythropoiesis that is characterized by ineffective erythropoiesis as the predominant cause of anemia and by distinct morphologic abnormalities of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type I (CDA I) is an autosomal recessive disorder with ineffective erythropoiesis and iron overloading. More than 100 cases have been described, but with the exception of a report on a large Bedouin tribe, these reports include only small numbers of cases. 1,2 CDA-I is uncommonly reported from Indian subcontinent hence we are discussing a case of CDA I. Our case also highlights the fact that diagnosis of CDAI can be made with high reliability by careful examination of bone marrow aspirate. PMID:24554823

Kumar, A; Kushwaha, R; Singh, U S



Genetics Home Reference: Dyserythropoietic anemia and thrombocytopenia  


... Recent literature OMIM Genetic disorder catalog Conditions > Dyserythropoietic anemia and thrombocytopenia On this page: Description Genetic changes ... Glossary definitions Reviewed October 2014 What is dyserythropoietic anemia and thrombocytopenia? Dyserythropoietic anemia and thrombocytopenia is a ...


A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis  

PubMed Central

The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis, characterized by ineffective erythropoiesis as the predominant mechanism of anemia and by characteristic morphological aberrations of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II is the most frequent type. All types of congenital dyserythropoietic anemias distinctly share a high incidence of iron loading. Iron accumulation occurs even in untransfused patients and can result in heart failure and liver cirrhosis. We have reported about a patient who presented with liver cirrhosis and intractable ascites caused by congenital dyserythropoietic anemia type II. Her clinical course was further complicated by the development of autoimmune hemolytic anemia. Splenectomy was eventually performed which achieved complete resolution of ascites, increase of hemoglobin concentration and abrogation of transfusion requirements. PMID:16521204

Vassiliadis, Themistoklis; Garipidou, Vassilia; Perifanis, Vassilios; Tziomalos, Konstantinos; Giouleme, Olga; Patsiaoura, Kalliopi; Avramidis, Michalis; Nikolaidis, Nikolaos; Vakalopoulou, Sofia; Tsitouridis, Ioannis; Antoniadis, Antonios; Semertzidis, Panagiotis; Kioumi, Anna; Premetis, Evangelos; Eugenidis, Nikolaos



Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I  

PubMed Central

The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological abnormalities and a block in erythroid maturation. Mutations in the CDAN1 gene, which encodes Codanin-1, underlie the majority of congenital dyserythropoietic anemia type I cases. However, no likely pathogenic CDAN1 mutation has been detected in approximately 20% of cases, suggesting the presence of at least one other locus. We used whole genome sequencing and segregation analysis to identify a homozygous T to A transversion (c.533T>A), predicted to lead to a p.L178Q missense substitution in C15ORF41, a gene of unknown function, in a consanguineous pedigree of Middle-Eastern origin. Sequencing C15ORF41 in other CDAN1 mutation-negative congenital dyserythropoietic anemia type I pedigrees identified a homozygous transition (c.281A>G), predicted to lead to a p.Y94C substitution, in two further pedigrees of SouthEast Asian origin. The haplotype surrounding the c.281A>G change suggests a founder effect for this mutation in Pakistan. Detailed sequence similarity searches indicate that C15ORF41 encodes a novel restriction endonuclease that is a member of the Holliday junction resolvase family of proteins. PMID:23716552

Babbs, Christian; Roberts, Nigel A.; Sanchez-Pulido, Luis; McGowan, Simon J.; Ahmed, Momin R.; Brown, Jill M.; Sabry, Mohamed A.; Bentley, David R.; McVean, Gil A.; Donnelly, Peter; Gileadi, Opher; Ponting, Chris P.; Higgs, Douglas R.; Buckle, Veronica J.



Genetics Home Reference: Congenital dyserythropoietic anemia  


... literature OMIM Genetic disorder catalog Conditions > Congenital dyserythropoietic anemia (often shortened to CDA ) On this page: Description ... Reviewed July 2009 What is CDA? Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects ...


Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension with pigeon chest deformity.  


Congenital dyserythropoietic anemia (CDA) type-1 is a rare genetic disorder of ineffective erythropoiesis, which manifests in macrocytic anemia. We report a CDA1 patient who as a newborn presented with macrocytic anemia and persistent pulmonary hypertension of the newborn (PPHN) requiring mechanical ventilation. Post-infancy, the patient developed acral dysmorphism and pectus excavatum the latter rarely found in CDA1. Patient is a compound heterozygote for a known maternal-derived missense-mutation (c.1796A?>?G/p.Asn589Ser) and a novel paternal-derived deletion-mutation (c.1104_1106del/Phe365del) in CDAN1. This report highlights the importance of recognizing PPHN as a presenting symptom of CDA1 and expands the repertoire of the accompanying mutations and axial skeletal malformations. PMID:24420417

El-Sheikh, Ayman A; Hashem, Hasan; Holman, Carol; Vyas, Yatin M



Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I  

PubMed Central

Congenital dyserythropoietic anemia (CDA) is a rare group of red blood cell disorders characterized by ineffective erythropoiesis and increased iron absorption. To determine whether growth differentation factor 15 (GDF15) hyper-expression is associated with the ineffective erythropoiesis and iron-loading complications of CDA type I (CDA I), GDF15 levels and other markers of erythropoiesis and iron overload were studied in blood from 17 CDA I patients. Significantly higher levels of GDF15 were detected among the CDA I patients (10?239 ± 3049 pg/mL) compared with healthy volunteers (269 ± 238 pg/mL). In addition, GDF15 correlated significantly with several erythropoietic and iron parameters including Hepcidin-25, Ferritin, and Hepcidin-25/Ferritin ratios. These novel results suggest that CDA I patients express very high levels of serum GDF15, and that GDF15 contributes to the inappropriate suppression of hepcidin with subsequent secondary hemochromatosis. PMID:18824595

Shalev, Hanna; Perez-Avraham, Galit; Zoldan, Meira; Levi, Itai; Swinkels, Dorine W.; Tanno, Toshihiko; Miller, Jeffery L.



Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.  


Congenital dyserythropoietic anemia type II, a recessive disorder of erythroid differentiation, is due to mutations in SEC23B, a component of the core trafficking machinery COPII. In no case homozygosity or compound heterozygosity for nonsense mutation(s) was found. This study represents the first description of molecular mechanisms underlying SEC23B hypomorphic genotypes by the analysis of five novel mutations. Our findings suggest that reduction of SEC23B gene expression is not associated with CDA II severe clinical presentation; conversely, the combination of a hypomorphic allele with one functionally altered results in more severe phenotypes. We propose a mechanism of compensation SEC23A-mediated which justifies these observations. PMID:23453696

Russo, Roberta; Langella, Concetta; Esposito, Maria Rosaria; Gambale, Antonella; Vitiello, Francesco; Vallefuoco, Fara; Ek, Torben; Yang, Elizabeth; Iolascon, Achille



Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan proteins caused by lowered N-acetylglucosaminyltransferase II.  


Congenital dyserythropoietic anemia type II or hereditary erythroblastic multinuclearity with positive acidified serum test (HEMPAS) is a genetic disease caused by membrane abnormality. Previously we have found that Band 3 and Band 4.5 are not glycosylated by lactosaminoglycans in HEMPAS erythrocytes, whereas normally these proteins have lactosaminoglycans (Fukuda, M. N., Papayannopoulou, T., Gordon-Smith, E. C., Rochant, H., and Testa, U. (1984) Br. J. Haematol. 56, 55-68). In order to find out where glycosylation of lactosaminoglycans stops, we have analyzed the carbohydrate structures of HEMPAS Band 3. By fast atom bombardment-mass spectrometry, methylation analysis, and hydrazinolysis followed by exoglycosidase treatments, the following structure was elucidated: (formula; see text) N-Linked glycopeptides synthesized in vitro by reticulocyte microsomes from HEMPAS were shown to be predominantly the above short oligosaccharide, whereas those from normal reticulocytes contain large molecular weight carbohydrates. The N-acetylglucosaminyltransferase II, which transfers N-acetylglucosamine to the C-2 position of the Man alpha 1----6Man beta 1----arm of the biantennary core structure, was therefore examined by using Man alpha 1----6(GlcNAc beta 1----2Man alpha 1----3)Man beta 1----4GlcNAc beta 1----4GlcNAcol as an acceptor. N-Acetylglucosaminyltransferase II activity was demonstrated in the lymphocyte microsome fraction from normal individuals. However, this enzyme activity was found to be decreased in those from HEMPAS patients. These results suggest that the primary defect of HEMPAS lies in the lowered activity of N-acetylglucosaminyltransferase II. PMID:2953718

Fukuda, M N; Dell, A; Scartezzini, P



Congenital dyserythropoietic anemias: molecular insights and diagnostic approach  

PubMed Central

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

Heimpel, Hermann; Wahlin, Anders; Tamary, Hannah



Unbalanced Globin Chain Synthesis in Congenital Dyserythropoietic Anemia  

Microsoft Academic Search

Hematologic evaluation of a 5-yr-old girl from the child and from both of her parents with lifelong anemia demonstrated the an abnormal balance between the synthe- characteristic findings of congenital dys- sis of the a and non-a globin components erythropoietic anemia (CDA) type II. of hemoglobin was observed, the a chains Globin chain synthesis was studied in vitro being synthesized

Marilyn A. Hruby; R. George Mason; George R. Honig



Congenital dyserythropoietic anaemia type II: a rare entity  

PubMed Central

Congenital dyserythropoietic anaemias (CDAs) are a group of rare hereditary disorder characterised by ineffective erythropoiesis and dyserythropoiesis. Among the three variants, type II is the most common. The authors are presenting two cases of CDA type II in two sisters. PMID:22696622

Alam, Kiran; Aziz, Mehar; Varshney, Manoranjan; Maheshwari, Veena; Basha, Mahfooz; Gaur, Kavita



Congenital dyserythropoietic anemia in China: a case report from two families and a review.  


Congenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA ? in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ?? in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China. PMID:24196372

Ru, Yongxin; Liu, Gang; Bai, Jie; Dong, Shuxu; Nie, Neng; Zhang, Huamei; Zhao, Shixuan; Zheng, Yizhou; Zhu, Xiaofan; Nie, Guangjun; Zhang, Fengkui; Eyden, Brian



Congenital dyserythropoietic anaemia type I in two brothers presenting with neonatal jaundice.  

PubMed Central

Two brothers with congenital dyserythropoietic anaemia type I are described. Both presented with neonatal jaundice, required transfusion for anaemia at 8 weeks of age, and have subsequently remained well with only mild anaemia. Peripheral blood findings and bone marrow morphology on light and electron microscopy are discussed. Images Fig. 1 Fig. 2 PMID:718245

Lay, H N; Pemberton, P J; Hilton, H B



Types of Hemolytic Anemia  


... from the NHLBI on Twitter. Types of Hemolytic Anemia There are many types of hemolytic anemia. The ... the condition, but you develop it. Inherited Hemolytic Anemias With inherited hemolytic anemias, one or more of ...


Genetics Home Reference: Anemia  


... Home Conditions Genes Chromosomes Handbook Glossary Resources Conditions > Anemia Related topics on Genetics Home Reference: acute promyelocytic ... syndrome beta thalassemia Coats plus syndrome congenital dyserythropoietic anemia Diamond-Blackfan anemia Fanconi anemia Ghosal hematodiaphyseal dysplasia ...




Anemia is a condition in which the body does not have enough healthy red blood cells. Red ... provide oxygen to body tissues. Other types of anemia include: Anemia due to B12 deficiency Anemia due ...




... type of anemia happens when your red blood cells are destroyed by disease. Updated: March 2012 Posted: March 2012 © 2014 Health in Aging. All rights reserved. Feedback • Site Map • Privacy Policy • ...


Defective organization of the erythroid cell membrane in a novel case of congenital anemia  

Microsoft Academic Search

In the present paper, we demonstrate the erythroid cell membrane unique properties in a previously characterized case of hemoglobin-H disease, associated with congenital dyserythropoietic anemia type-I features. In order to explain the patient’s cell membrane distortions and the high affinity for the various intracellular inclusions, we studied its composition and structure in comparison to other anemic and non-anemic cases. Red

Marianna H Antonelou; Issidora S Papassideri; Fotini J Karababa; Dimitrios J Stravopodis; Afroditi Loutradi; Lukas H Margaritis



Pernicious anemia  


Macrocytic achylic anemia; Congenital pernicious anemia; Juvenile pernicious anemia; Vitamin B12 deficiency (malabsorption) ... Pernicious anemia is a type of vitamin B12 anemia. The body needs vitamin B12 to make red blood cells. ...




... risk for developing anemia: Rheumatoid arthritis or other autoimmune disease Kidney disease Cancer Liver disease Thyroid disease Inflammatory ... viral infections, exposure to toxic chemicals, drugs, and autoimmune diseases. Idiopathic aplastic anemia is the term used when ...




If you have anemia, your blood does not carry enough oxygen to the rest of your body. The most common cause of anemia is not having enough ... rich protein that gives the red color to blood. It carries oxygen from the lungs to the ...




... the first step toward anemia. If the body's iron stores aren't replenished at this point, continuing iron ... for several months to build back your body's iron stores. Back Continue Getting Enough Iron Some people feel ...


Your Guide to Anemia  


... e m i a Treatments for Hemolytic Anemia Treatments for Acquired Hemolytic Anemia Type Possible Treatments Immune hemolytic ... destruction of RBCs in this form of anemia). Treatments for Inherited Hemolytic Anemia Type Possible Treatments Hemoglobin disorders ( ...


Prevalence of different types of anemia in Ecuador.  


1. We present the results of a study of the prevalence of anemia and its causes in the population of Ecuador. The following parameters were used: blood cytology, reticulocyte count, serum iron, iron binding capacity, ferritin, folic acid and vitamin B 12 concentration. 2. The study was carried out on 4 groups: 426 individuals of both sexes and all ages from the rural population of the lowlands, with a warm and humid climate; 226 individuals from the highlands, with a cold and dry climate; 1000 individuals of the urban working group from the lowlands; and 1000 individuals of the urban working group from the highlands. All subjects were chosen randomly. 3. The prevalence of anemia was 31.4% in the rural group from the lowlands, 27.9% in the rural group from the highlands, 5.5% in the urban group from the lowlands, and 2.7% in the urban group from the highlands, with an overall estimated prevalence of 20.6% for the population of Ecuador as a whole. Iron deficiency was the most frequent cause of anemia (91.3%; 18.7% of the total population), followed by bone marrow failure (6%; 1.2% of the total population), hemolysis (2.2%; 0.5% of the total population), and finally megaloblastic anemia (0.5%; 0.1% of the total population). 4. Since iron deficiency with and without anemia is very frequent, we believe it is justified to establish mechanisms for food iron enrichment for liable groups such as children and pregnant women from marginal areas. PMID:3266472

Cañizares, C; Bonilla, R; Vásquez, C



Folate-deficiency anemia  


Folate-deficiency anemia is a decrease in red blood cells ( anemia ) due to a lack of folate. Folate is a type ... B vitamin. It is also called folic acid. Anemia is a condition in which the body does ...


Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves.  


Congenital dyserythropoietic anaemia (CDA) is a heterogeneous group of rare genetic disorders that in humans is characterised by ineffective haematopoiesis with morphological abnormalities in erythroid precursor cells and secondary iron overload. In the 1990s, a syndrome of CDA with dyskeratosis and progressive alopecia was reported in Poll Hereford calves in Canada and the USA. We report the clinical and pathological findings in two Poll Hereford calves with this syndrome from separate properties in South Australia. The animals had a variably severe anaemia, associated with abnormal nucleated red blood cells in peripheral blood, and large numbers of rubricytes and metarubricytes with a characteristic nuclear ultrastructure in the bone marrow. Both calves were born with a wiry hair coat and a progressively 'dirty-faced' appearance associated with hyperkeratosis and dyskeratosis (apoptosis). PMID:23186092

Kessell, A E; Hanshaw, D M; Finnie, J W; Nosworthy, P



Pernicious anemia in a patient with Type 1 diabetes mellitus and alopecia areata universalis.  


A 27-year-old male, who had developed diabetes mellitus type 1 (DMT1) since the age of eighteen and alopecia areata universalis nine months later, attended the outpatient clinics complaining of general fatigue and shortness of breath. A Schilling test was indicative of pernicious anemia. Antigastric parietal cell (AGPA) and anti-intrinsic factor antibodies were positive, confirming diagnosis of pernicious anemia. Thyroid and Addison's disease were excluded. Gastroscopy revealed atrophic gastritis without any evidence of carcinoid tumors. The aim of this case, which, to our knowledge, is the first one to describe a correlation between diabetes mellitus Type 1 (DMT1), pernicious anaemia, and alopecia areata universalis, is to remind the clinician of the increased risk of pernicious anaemia and gastric carcinoids in DMT1 patients. Screening for AGPA followed by serum gastrin and vitamin B(12) levels constitute the most evidence-based diagnostic approach. PMID:18614380

Tzellos, Thrasivoulos G; Tahmatzidis, Dimitrios K; Lallas, Aimilios; Apostolidou, Kiriaki; Goulis, Dimitrios G



Identification of a novel simian parvovirus in cynomolgus monkeys with severe anemia. A paradigm of human B19 parvovirus infection.  

PubMed Central

Although human B19 parvovirus infection has been clearly associated with a number of distinct syndromes (including severe anemia, abortion, and arthritis), detailed knowledge of its pathogenesis has been hindered by the lack of a suitable animal model. We have identified a novel simian parvovirus in cynomolgus monkeys with severe anemia. Sequencing of a 723-bp fragment of cloned viral DNA extracted from serum revealed that the simian parvovirus has 65% homology at the DNA level with the human B19 parvovirus but little homology with other known parvoviruses. Light microscopic examination of bone marrow from infected animals showed intranuclear inclusion bodies, and ultrastructural studies showed viral arrays characteristic of parvoviruses. Another striking feature was the presence of marked dyserythropoiesis in cells of the erythroid lineage, raising the possibility that B19 parvovirus infection may underlie related dyserythropoietic syndromes in human beings. Affected animals had concurrent infection with the immunosuppressive type D simian retrovirus, analogous to HIV patients who develop severe anemia because of infection with B19 parvovirus. The remarkable similarities between the simian and B19 parvoviruses suggest that experimentally infected cynomolgus monkeys may serve as a useful animal model of human B19 infection. Images PMID:8163659

O'Sullivan, M G; Anderson, D C; Fikes, J D; Bain, F T; Carlson, C S; Green, S W; Young, N S; Brown, K E



Sickle cell anemia  


Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease ... Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells ...


Megaloblastic anemia.  


Most, but not all, megaloblastic anemia is produced by "ineffective erythropoiesis" in the bone marrow due to either folic acid or vitamin B12 deficiency. In folic acid deficiency the cause frequently is inadequate dietary intake, whereas vitamin B12 deficiency is almost always conditioned by some specific type of malabsorption. Anemia with oval macrocytes, few reticulocytes, moderate leukopenia, and thrombocytopenia is typical of both. Aplastic anemia, refractory anemias with cellular marrow, preleukemia, aleukemia, and erythroleukemia may have somewhat similar blood findings but are usually recognizable from bone marrow biopsy. Decreased levels of folate or vitamin B12 are the most reliable criteria of megaloblastic anemia. With these available in advance, therapy with the appropriate vitamin can be begun at once. If serum levels are unavailable or available only in retrospect, initial treatment, especially of severe anemia, should be with both vitamins. Differentiation between folate and vitamin B12 deficiency is important but impossible by blood and bone marrow morphology alone. Thus, if serum levels are unavailable, the distinction must be made, sometimes retrospectively, on the basis of other laboratory examinations, such as gastric analysis, small-bowel x-ray films, and the Schilling test. PMID:704501

Castle, W B



T cell deficiency in patients with autoimmune hemolytic anemia ('warm type').  


19 patients with chronic 'warm type' autoimmune hemolytic anemia were studied for abnormalities of cellular immune reactions. Evidence was obtained for a reduction of rosette-forming cells (RFC). Lymphocytotoxic antibodies were present in only 8 patients and correlated, with only one exception, with a reduced number of RFC. No significant deviation from normal ranges of the three major immunoglobulin classes in the patients' sera were found. C3 and C4 complement components were also, with one exception, within normal limits. In 18 of 19 patients no apparent association existed between the type or the amount of autoantibodies and/or complement components fixed on red cells and the levels of the respective immunoglobulins or complement in the sera. PMID:1084624

Krüger, J; Rahman, A; Mogk, K U; Mueller-Eckhardt, C



Retinopathy and clinical outcomes in patients with type 2 diabetes mellitus, chronic kidney disease, and anemia  

PubMed Central

Objective Retinopathy is an established microvascular complication of type 2 diabetes mellitus (T2DM), but its independent relationship with macrovascular and other microvascular complications is less well defined across the spectrum of kidney disease in T2DM. We examined the prognostic value of retinopathy in assessing the risk of developing end-stage renal disease (ESRD), cardiovascular morbidity or death among patients in the Trial to Reduce cardiovascular Events with Aranesp Therapy (TREAT). Design TREAT enrolled 4038 patients with T2DM, chronic kidney disease (CKD) and moderate anemia. Patients were grouped by baseline history of retinopathy. Proportional hazards regression models were utilized to assess the association between retinopathy and subsequent ESRD, cardiovascular morbidity or death over an average of 2.4?years. Results Although younger, the 1895 (47%) patients with retinopathy had longer duration of diabetes, lower estimated glomerular filtration rate, more proteinuria, and more microvascular complications. In univariate analysis, retinopathy was associated with a higher rate of ESRD, but not with cardiovascular events or mortality. After adjustment, retinopathy was no longer statistically significant for the prediction of ESRD or any clinical endpoint. Conclusions In a large cohort of patients with T2DM, CKD, and anemia, retinopathy was common but not independently associated with a higher risk of renal or cardiovascular morbidity or death. Trial registration number NCT00093015

Bello, Natalie A; Pfeffer, Marc A; Skali, Hicham; McGill, Janet B; Rossert, Jerome; Olson, Kurt A; Weinrauch, Larry; Cooper, Mark E; de Zeeuw, Dick; Rossing, Peter; McMurray, John J V; Solomon, Scott D



Aplastic Anemia  


... from the NHLBI on Twitter. What Is Aplastic Anemia? Aplastic anemia (a-PLAS-tik uh-NEE-me-uh) is ... heart, heart failure , infections, and bleeding. Severe aplastic anemia can even cause death. Overview Aplastic anemia is ...


The Hypochromic Anemias  

PubMed Central

Hypochromic anemia is the commonest type of anemia encountered in family practice. Although iron deficiency is by far the most common cause, it cannot be readily distinguished from hypochromic anemia due to other causes (thalassemia, secondary anemia and sideroblastic anemia) without knowing the state of the tissue iron stores. Treatment with iron should not be commenced until this is known. To establish the reason for the hypochromic state, the following tests are suggested: serum ferritin, bone marrow assessment of iron stores, plus serum iron and iron binding capacity. PMID:20469272

Ali, M. A. M.



Serum and gastric mucosal pepsinogens in atrophic gastritis, particularly in type A gastritis associated with pernicious anemia in Japanese  

Microsoft Academic Search

Summary  The levels of serum pepsinogen I (PG I) and pepsinogen II (PG II) were determined by IRMA (immunoradiometric assay) and the\\u000a ratio of PG I\\/II calculated in 37 patients with type A gastritis and concomitant pernicious anemia (PA) and in 97 with chronic\\u000a gastritis (type B gastritis) among Japanese. In several patients from each group, PG I and PG II

Kyoko Haruki; Kimie Kurokawa; Hitomi Adachi; Hiroshi Obata



Drug-induced immune hemolytic anemia  


Immune hemolytic anemia secondary to drugs; Anemia - immune hemolytic - secondary to drugs ... Drugs that can cause this type of hemolytic anemia include: Cephalosporins (a class of antibiotics) -- most common ...


Hemolytic Anemia  


... from the NHLBI on Twitter. What Is Hemolytic Anemia? Hemolytic anemia (HEE-moh-lit-ick uh-NEE-me-uh) ... blood cells to replace them. However, in hemolytic anemia, the bone marrow can't make red blood ...


Hemolytic anemia  


Anemia - hemolytic ... Hemolytic anemia occurs when the bone marrow is unable to replace the red blood cells that are being destroyed. Immune hemolytic anemia occurs when the immune system mistakenly sees your ...


Pernicious Anemia  


... from the NHLBI on Twitter. What Is Pernicious Anemia? Pernicious anemia (per-NISH-us uh-NEE-me-uh) is ... nervous system working properly. People who have pernicious anemia can't absorb enough vitamin B12 from food. ...


Fanconi's anemia  


... of blood cells. Fanconi's anemia is different from Fanconi syndrome , a rare kidney disorder. ... Fanconi's anemia is due to an abnormal gene that damages cells, which keeps them from repairing damaged DNA. ...


Aplastic anemia  


Aplastic anemia is a condition in which the bone marrow does not make enough new blood cells. Bone marrow ... Aplastic anemia results from injury to the blood stem cells. These are immature cells in the bone marrow that ...


Aplastic Anemia  


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


Distinct Intracellular Trafficking of Equine Infectious Anemia Virus and Human Immunodeficiency Virus Type 1 Gag during Viral Assembly and Budding Revealed by Bimolecular Fluorescence Complementation Assays  

Microsoft Academic Search

Retroviral Gag polyproteins are necessary and sufficient for virus budding. Numerous studies of human immunodeficiency virus type 1 (HIV-1) Gag assembly and budding mechanisms have been reported, but relatively little is known about these fundamental pathways among animal lentiviruses. While there may be a general assumption that lentiviruses share common assembly mechanisms, studies of equine infectious anemia virus (EIAV) have

Jing Jin; Timothy Sturgeon; Chaoping Chen; Simon C. Watkins; Ora A. Weisz; Ronald C. Montelaro



About Anemia  


... vessels in the skin. A fast heartbeat can be another sign of anemia, because when you don't have as many RBCs, the heart has to work harder to get the same amount of blood and oxygen to the body. If anemia worsens, a kid who was once very active may become worn out quickly. He or she ...


Anemia in inflammatory bowel disease.  


Anemia is a frequent extraenteric complication of inflammatory bowel disease (IBD, Crohn's disease and ulcerative colitis). A systematic review of the literature shows that the overall prevalence of anemia ranges from 8.8% to 73.7% but differs whether in a setting of Crohn's disease or ulcerative colitis. A disabling complication of IBD, anemia worsens the patient's general condition and quality of life, and increases hospitalization rates. Different factors, including vitamin B12 and folic acid deficiency, bone marrow suppression secondary to drug therapy, autoimmune hemolytic anemia and the coexistence of myelodysplastic syndromes are involved in the pathogenesis of anemia in IBD. The main types of anemia in IBD are iron deficiency anemia and anemia accompanying chronic diseases. Correct diagnostic definition of anemia is a fundamental step in guiding the choice of therapeutic options, since the co-presence of different pathogenetic factors may sometimes require a more complex treatment plan. A review of anemia in IBD, its pathogenetic features, epidemiology, diagnosis and therapy based on evidence from recent studies is the focus of this article. PMID:16971872

Giannini, S; Martes, C



Iron deficiency anemia.  


The prevalence of iron deficiency anemia is 2 percent in adult men, 9 to 12 percent in non-Hispanic white women, and nearly 20 percent in black and Mexican-American women. Nine percent of patients older than 65 years with iron deficiency anemia have a gastrointestinal cancer when evaluated. The U.S. Preventive Services Task Force currently recommends screening for iron deficiency anemia in pregnant women but not in other groups. Routine iron supplementation is recommended for high-risk infants six to 12 months of age. Iron deficiency anemia is classically described as a microcytic anemia. The differential diagnosis includes thalassemia, sideroblastic anemias, some types of anemia of chronic disease, and lead poisoning. Serum ferritin is the preferred initial diagnostic test. Total iron-binding capacity, transferrin saturation, serum iron, and serum transferrin receptor levels may be helpful if the ferritin level is between 46 and 99 ng per mL (46 and 99 mcg per L); bone marrow biopsy may be necessary in these patients for a definitive diagnosis. In children, adolescents, and women of reproductive age, a trial of iron is a reasonable approach if the review of symptoms, history, and physical examination are negative; however, the hemoglobin should be checked at one month. If there is not a 1 to 2 g per dL (10 to 20 g per L) increase in the hemoglobin level in that time, possibilities include malabsorption of oral iron, continued bleeding, or unknown lesion. For other patients, an endoscopic evaluation is recommended beginning with colonoscopy if the patient is older than 50. PMID:17375513

Killip, Shersten; Bennett, John M; Chambers, Mara D



Anemia and Pregnancy  


... For Patients / Blood Disorders / Anemia / Anemia and Pregnancy Anemia & Pregnancy Your body goes through significant changes when ... becoming anemic. back to top Is Pregnancy-Related Anemia Preventable? Good nutrition is the best way to ...


What Causes Anemia?  


... page from the NHLBI on Twitter. What Causes Anemia? The three main causes of anemia are: Blood ... the blood and can lead to anemia. Aplastic Anemia Some infants are born without the ability to ...


Anemia and Fatigue  


Anemia And Fatigue Anemia And Fatigue htmAnemiaAndFatigue Left untreated, anemia can lead to a lack of energy and, more seriously, strokes, heart attacks ... InteliHealth Medical Content 2014-12-08 What Is Anemia? Anemia means that your hemoglobin level is below ...


Reticulocytopenia in severe autoimmune hemolytic anemia (AIHA) of the warm antibody type.  


A patient with severe AIHA of the warm antibody type, absence of reticulocytes and red cell hyperplasia of the bone marrow is described. In order to maintain a reasonable hemoglobin level 38 units of washed packed red cells were required within 24 days. The treatment with high doses of steroids showed no permanent beneficial effect. After splenectomy the red cell destruction was immediately reduced and the patient went into a remission. Bone marrow culture studies during the acute phase of the disease and at the time of complete hemato- and immunological remission, i.e. 4 months after splenectomy suggested a circulating autoantibody directed to early erythroid progenitors (BFU-E). The inhibitory activity in the patient's plasma did not influence granulocytic or mixed colony formation (CFU-GEMM). In addition to autoantibodies directed to erythroblasts and erythropoietin involved in the pathogenic mechanisms leading to red cell aplasia type I and II the culture studies suggest an unusual autoantibody that might cause the observed reticulocytopenia and erythropoietic hyperplasia of the bone marrow in AIHA. After the splenectomy the patient recovered, he required no further blood transfusions and his disease has not recurred. PMID:6850101

Hauke, G; Fauser, A A; Weber, S; Maas, D




E-print Network

Ever since Ehrlich described the megaloblasts seen in pernicious anemia during relapse, there have been attempts by many investigators to produce experimentally an anemia similar in all respects to human pernicious anemia. Macrocytic anemia with the megaloblastic type of erythrocytic

F. Douglas; Lawrasont; E. P. Cronkite


Sickle Cell Anemia  


... not have the disease itself. What Is Sickle Cell Anemia? Sickle cell anemia is a blood disorder ... blood vessels. Continue What Happens With Sickle-Shaped Cells Sickle cell anemia occurs because an abnormal form ...


Anemia in the Newborn  


... Caregivers > Children's Health Issues > Problems in Newborns 4 Anemia in the Newborn Anemia is a disorder in which there are too few red blood cells in the blood. Anemia can occur when red blood cells are broken ...


Anemia of chronic disease  


Anemia of inflammation; AOCD; ACD ... Anemia is a lower-than-normal number of red blood cells in the blood. Some conditions can lead to anemia of chronic disease include: Autoimmune disorders , such as ...


Living with Anemia  


... page from the NHLBI on Twitter. Living With Anemia Often, you can treat and control anemia. If ... by an inherited or chronic disease or trauma. Anemia and Children/Teens Infants and young children have ...


What Are the Signs and Symptoms of Fanconi Anemia?  


... What Are the Signs and Symptoms of Fanconi Anemia? Major Signs and Symptoms Your doctor may suspect ... sisters also should be tested for the disorder. Anemia The most common symptom of all types of ...


Anemia in older persons.  


Anemia in older persons is commonly overlooked despite mounting evidence that low hemoglobin levels are a significant marker of physiologic decline. Using the World Health Organization definition of anemia (hemoglobin level less than 13 g per dL [130 g per L] in men and less than 12 g per dL [120 g per L] in women), more than 10 percent of persons older than 65 years are anemic. The prevalence increases with age, approaching 50 percent in chronically ill patients living in nursing homes. There is increasing evidence that even mild anemia is associated with increased morbidity and mortality. Anemia warrants evaluation in all older persons, except those at the end of life or who decline interventions. About one third of persons have anemia secondary to a nutritional deficiency, one third have anemia caused by chronic inflammation or chronic kidney disease, and one third have unexplained anemia. Nutritional anemia is effectively treated with vitamin or iron replacement. Iron deficiency anemia often is caused by gastrointestinal bleeding and requires further investigation in most patients. Anemia of chronic inflammation or chronic kidney disease may respond to treatment of the underlying disease and selective use of erythropoiesis-stimulating agents. The treatment of unexplained anemia is difficult, and there is little evidence that treatment decreases morbidity and mortality, or improves quality of life. Occasionally, anemia may be caused by less common but potentially treatable conditions, such as autoimmune hemolytic anemia, malignancy, or myelodysplastic syndrome. PMID:20822082

Bross, Michael H; Soch, Kathleen; Smith-Knuppel, Teresa



Living with Fanconi Anemia  


... from the NHLBI on Twitter. Living With Fanconi Anemia Improvements in blood and marrow stem cell transplants ... FA can be costly). Rate This Content: Fanconi Anemia Clinical Trials Clinical trials are research studies that ...


The Anemias of Athletes.  

ERIC Educational Resources Information Center

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)

Eichner, Edward R.



Myeloma and pernicious anemia.  


Four cases of pernicious anemia developing in association with multiple myeloma are described. The description now of 14 cases demonstrating the association of these two disorders suggest a causative relationship. These observations, in addition to the previously well-documented increased coincidence of pernicious anemia and benign monoclonal gammopathy and pernicious anemia and hypoglobulinemia, suggest that screening for vitamine B12 deficiency in patients with gammopathies and for protein abnormalities in patients with pernicious anemia is indicated. PMID:665715

Perillie, P E



Laboratory Evaluation of Anemia  

PubMed Central

The laboratory evaluation of anemia begins with a complete blood count and reticulocyte count. The anemia is then categorized as microcytic, macrocytic or normocytic, with or without reticulocytosis. Examination of the peripheral smear and a small number of specific tests confirm the diagnosis. The serum iron level, total iron-binding capacity, serum ferritin level and hemoglobin electrophoresis generally separate the microcytic anemias. The erythrocyte size-distribution width may be particularly helpful in distinguishing iron deficiency from thalassemia minor. Significant changes have occurred in the laboratory evaluation of macrocytic anemia, and a new syndrome of nitrous oxide-induced megaloblastosis and neurologic dysfunction has been recognized. A suggested approach to the hemolytic anemias includes using the micro-Coombs' test and ektacytometry. Finally, a number of causes have been identified for normocytic anemia without reticulocytosis, including normocytic megaloblastic anemia and the acquired immunodeficiency syndrome. PMID:3577135

Wallerstein, Ralph O.



Fanconi Anemia  


... t diagnosed until cancer (usually the type called squamous cell carcinoma) has been identified. At least 60% of individuals ... head and neck, gynecologic system or gastrointestinal system (squamous cell carcinoma or adenocarcinoma) at an early age and without ...


How Is Pernicious Anemia Treated?  


... from the NHLBI on Twitter. How Is Pernicious Anemia Treated? Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment. The goals of treating ...


Genetics Home Reference: Fanconi anemia  


... Recent literature OMIM Genetic disorder catalog Conditions > Fanconi anemia On this page: Description Genetic changes Inheritance Diagnosis ... Glossary definitions Reviewed January 2012 What is Fanconi anemia? Fanconi anemia is a condition that affects many ...


How Is Aplastic Anemia Treated?  


... from the NHLBI on Twitter. How Is Aplastic Anemia Treated? Treatments for aplastic anemia include blood transfusions , blood and marrow stem cell ... a transplant. Removing a known cause of aplastic anemia, such as exposure to a toxin, also may ...


Managing Chemotherapy Side Effects: Anemia  


... National Institutes of Health Managing Chemotherapy Side Effects Anemia Call your doctor or nurse if you feel: ? ... tired ? Your heart beating very fast What is anemia? Anemia is when your body doesn’t have ...


Anemia of inflammation.  


Anemia of inflammation (AI, also called anemia of chronic disease) is a common, typically normocytic, normochromic anemia that is caused by an underlying inflammatory disease. It is diagnosed when serum iron concentrations are low despite adequate iron stores, as evidenced by serum ferritin that is not low. In the setting of inflammation, it may be difficult to differentiate AI from iron deficiency anemia, and the 2 conditions may coexist. Treatment should focus on the underlying disease. Recent advances in molecular understanding of AI are stimulating the development of new pathophysiologically targeted experimental therapies. PMID:25064707

Nemeth, Elizabeta; Ganz, Tomas



Iron deficiency anemia  

PubMed Central

Iron is essential to virtually all living organisms and is integral to multiple metabolic functions. The most important function is oxygen transport in hemoglobin. Iron deficiency anemia in dogs and cats is usually caused by chronic blood loss and can be discovered incidentally as animals may have adapted to the anemia. Severe iron deficiency is characterized by a microcytic, hypochromic, potentially severe anemia with a variable regenerative response. Iron metabolism and homeostasis will be reviewed, followed by a discussion of diagnostic testing and therapeutic recommendations for dogs and cats with iron deficiency anemia. PMID:22942439

Naigamwalla, Dinaz Z.; Webb, Jinelle A.; Giger, Urs



Sickle Cell Anemia  


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 ... last as long as normal, round red blood cells. This leads to anemia. The sickle cells also ...


HEMOLYTIC ANEMIA Erythrocytes premature  

E-print Network

LABORATORY FINDINGS · M:E ratio decreased · Increased Reticulocytes · Nucleated RBC in peripheral blood, Venous Thrombosis, Infection, and Bone Marrow Hyperplasia · Ham Test #12;9/16/2013 6 HEMOLYTIC ANEMIA · Normocytic, Normochromic Anemia · Jaundice · Gallstones · Transfusions, Splenectomy #12;9/16/2013 7 IMMUNE


Fifth Cooley's anemia symposium  

SciTech Connect

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.

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



Improving the potency of DNA vaccine against Chicken Anemia Virus (CAV) by fusing VP1 protein of CAV to Marek's Disease Virus (MDV) Type-1 VP22 protein  

PubMed Central

Background Studies have shown that the VP22 gene of Marek's Disease Virus type-1 (MDV-1) has the property of movement between cells from the original cell of expression into the neighboring cells. The ability to facilitate the spreading of the linked proteins was used to improve the potency of the constructed DNA vaccines against chicken anemia virus (CAV). Methods The VP1 and VP2 genes of CAV isolate SMSC-1 were amplified and inserted into eukaryotic co-expression vector, pBudCE4.1 to construct pBudVP2-VP1. We also constructed pBudVP2-VP1/VP22 encoding CAV VP2 and the VP22 of MDV-1 linked to the CAV VP1. In vitro expression of the genes was confirmed by using RT-PCR, Western blot and indirect immunofluorescence. The vaccines were then tested in 2-week-old SPF chickens which were inoculated with the DNA plasmid constructs by the intramuscular route. After in vivo expression studies, immune responses of the immunized chickens were evaluated pre- and post-immunization. Results Chickens vaccinated with pBudVP2-VP1/VP22 exhibited a significant increase in antibody titers to CAV and also proliferation induction of splenocytes in comparison to the chickens vaccinated with pBudVP2-VP1. Furthermore, the pBudVP2-VP1/VP22-vaccinated group showed higher level of the Th1 cytokines IL-2 and IFN-?. Conclusions This study showed that MDV-1 VP22 gene is capable of enhancing the potency of DNA vaccine against CAV when fused with the CAV VP1 gene. PMID:21401953



Investigating the effectiveness of different tea types from various thyme kinds (Origanum onites, Thymbra spicata and Satureja cuneifolia) on anemia and anticholesterolemic activity.  


In a study on villagers settled on the outskirts of the Taurus Mountains and whose source of living is thyme, it was revealed that the villagers excessively consumed thyme by adding it to their tea and many of their foods; high incidences of anemia was found among these villagers. In this study, 42 male adult Wistar albino rats weighing 200-250 g were used. The rats were divided to six equal groups as follows: control, cholesterol (Chol), 80 mg/kg Origanum onites Labiatae (OOL), 80 mg/kg Thymbra spicata Labiatae (TSL), 80 mg/kg Satureja cuneifolia Labiatae (SCL), and 160 mg/kg TSL, and each group consisted of seven rats. The control group was fed with normal pellet feed. The Chol group and all the other groups, except for the control group, were fed with 2% cholesterol-containing pellet feed. Physiological serum of 4 ml was given to the control and Chol group, wheile 80 mg/kg of thymes tea was given to the OOL group, TSL group, and SCL group, and 160 mg/kg of thymes tea was given to the TSL group by means of a gavage for 30 days. In the blood samples, the hematologic parameters and the biochemical parameters of serum glucose, blood urea nitrogen, creatinine, total protein, albumin, iron (I), total iron-binding capacity, aminotransferase aspartate, alanine aminotransferase, alkaline phosphatase, lactate dehydrogenase, total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein cholesterol, triglyceride, and oxidized LDL levels were examined. The kidney and liver tissues were examined histopathologically. The results of the study showed that different types of thymes had an antihypercholesterolemic effect. In addition to the anemic effect detected in group TSL and the mild granular degeneration found in the liver of 80 mg/kg SCL group, distinct granular degeneration was observed in 160 mg/kg TSL group. PMID:23188651

Akdogan, Mehmet; Kisioglu, Ahmet Nesimi; Ciris, Metin; Koyu, Ahmet



Anemia in the Elderly  

PubMed Central

As the population ages, increasing attention has become focused on the prevalence of anemia in elderly individuals. Anemia occurs in more than 10% of individuals who are older than the age of 65 years, and it increases to more than 50% in individuals who are older than the age of 80 years. Although the anemia is typically mild and unlikely to result in symptoms, it is uniformly associated with increased morbidity and mortality as assessed in large cohort studies. Anemia is an independent predictor of these adverse outcomes both in healthy community-dwelling subjects and in patients with significant co-morbidities. Efforts to understand the pathophysiology of anemia in this population, especially the one third of patients with “unexplained” anemia, have focused on the potential contributions of inflammatory pathways, erythropoietin resistance, and changes in hematopoietic stem cells to the age-dependent decrease in red cell mass. We would argue that these pathways are closely interrelated and combine to lead to anemia in aging individuals. This brief review summarizes the current understanding of this entity and our studies aimed at further delineating its pathophysiology. PMID:23874029

Berliner, Nancy



Sickle Cell Anemia.  

National Technical Information Service (NTIS)

The bibliography is composed of 9 annotated, unclassified references to reports on sickle cell anemia. The entries were selected from references processed into the AD data bank from January 1953 trough February 1971. Corporate author-monitoring agency, su...



Iron deficiency anemia  


... You get iron deficiency anemia when your body's iron stores run low. This can occur because: You lose ... ferrous sulfate) are needed to build up the iron stores in your body. Most of the time, your ...


Management of renal anemia.  


Normochromic normocytic anemia is common in children with chronic renal failure (CRF) when their glomerular filtration rate is below 35 ml/min/1.73 m2 BSA, but it may develop earlier in some forms of renal disease. An inadequate erythropoiesis due to insufficient erythropoietin synthesis in the kidneys is the main cause of renal anemia. Other reasons include reduced red blood cell lifespan, chronic blood loss, iron deficiency, inhibitors of erythropoiesis, and malnutrition. The presence of anemia contributes to many of the symptoms of uremia, including decreased appetite, decreased energy, poor cardiac function, and poor school performance. Therefore, correction of anemia dramatically improves the life of the child with CRF. Presently, the goal of anemia management is to maintain hematocrit concentrations at 33% to 36% and a hemoglobin concentration of at least 11 g/L. This can be accomplished by intravenous or subcutaneous administration of recombinant erythropoietin (rHuEPO, 100-300 U/kg/week) and iron preparations. If adequate iron stores cannot be maintained with oral therapy (2-3, max 6 mg/kg/day), intravenous iron should be administered. In order to optimize anemia management in children with CRF, future research should be concentrated on the normalization of hemoglobin early in the course of CRF, and the long-term effects on the child's development. PMID:15884663

Peco-Antic, Amira



Mouse models of Fanconi anemia  

PubMed Central

Fanconi anemia is a rare inherited disease characterized by congenital anomalies, growth retardation, aplastic anemia and an increased risk of acute myeloid leukemia and squamous cell carcinomas. The disease is caused by mutation in genes encoding proteins required for the Fanconi anemia pathway, a response mechanism to replicative stress, including that caused by genotoxins that cause DNA interstrand crosslinks. Defects in the Fanconi anemia pathway lead to genomic instability and apoptosis of proliferating cells. To date, thirteen complementation groups of Fanconi anemia were identified. Five of these genes have been deleted or mutated in the mouse, as well as a sixth key regulatory gene, to create mouse models of Fanconi anemia. This review summarizes the phenotype of each of the Fanconi anemia mouse models and highlights how genetic and interventional studies using the strains have yielded novel insight into therapeutic strategies for Fanconi anemia and into how the Fanconi anemia pathway protects against genomic instability. PMID:19427003

Parmar, Kalindi; D'Andrea, Alan; Niedernhofer, Laura J.



How Is Iron-Deficiency Anemia Treated?  


... the NHLBI on Twitter. How Is Iron-Deficiency Anemia Treated? Treatment for iron-deficiency anemia will depend ... may be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is ...


Special Issues for People with Aplastic Anemia  


... Aplastic Anemia Special Issues for People with Aplastic Anemia Because you have aplastic anemia , everyday events can ... doctor if it is safe Pregnancy and Aplastic Anemia Pregnancy is possible for women who have been ...


Treatment of iron deficiency anemia in pediatric inflammatory bowel disease.  


Anemia is a frequent extraintestinal manifestation of inflammatory bowel disease (IBD) that is commonly overlooked, despite its significant impact on quality of life. Characteristic symptoms include chronic fatigue, headache, and subtle impairment of cognitive function, although some less common symptoms include dyspnea, dizziness, pica, angular stomatitis, shortened attention span, and esophageal webs. Several types of anemia are associated with IBD, but iron deficiency anemia (IDA) accounts for the majority of cases and others include anemia of chronic disease, anemia associated with vitamin deficiency (vitamin B12 and folate), autoimmune anemia, and anemia caused by medication used to treat IBD. The diagnosis of IDA relies on laboratory blood tests. Therefore, these tests should be obtained on a regular basis because characteristic symptoms may be absent or not readily recognized by patients and their clinicians. Complete blood count may suffice; however, iron studies and serum vitamin levels may be necessary to differentiate between specific types of anemia. During the diagnostic process, it is important to consider coexistence of different types of anemia, especially if no response to therapy is noted. The therapy for anemia is directed towards treatment of the underlying inflammatory process and supplemental therapy, depending on the type of deficiency. Iron deficiency anemia is treated with iron preparations, first orally, and if unresponsive or if associated with untoward adverse events leading to decrease in adherence with the therapeutic regimen, with intravenous preparations. Intramuscular therapy has been abandoned due to high rate of complications. Intravenous therapy may be administered as a multiple-dose regimen (intravenous iron sucrose and gluconate) or as a single intravenous dose (iron dextran), which is associated with a higher risk of allergic infusion reactions and requires obligatory test dose administration. Treatment with erythropoietin is reserved for a select subgroup of patients with anemia of chronic disease. With appropriate treatment, the majority of patients with IBD will have significant improvement or resolution of anemia, which can lead to a better quality of life. However, a high index of suspicion should be maintained in order to identify the precise cause of anemia and to prescribe the appropriate therapy. PMID:16162307

Thayu, Meena; Mamula, Petar



Genetic modulation of sickle cell anemia  

SciTech Connect

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.

Steinberg, M.H. [Univ. of Mississippi School of Medicine, Jackson, MS (United States)



What Causes Sickle Cell Anemia?  


... from the NHLBI on Twitter. What Causes Sickle Cell Anemia? Sickle cell anemia is an inherited disease. ... can also raise the risk for infection. Sickle Cell Trait People who inherit a sickle hemoglobin gene ...


How Is Aplastic Anemia Diagnosed?  


... from the NHLBI on Twitter. How Is Aplastic Anemia Diagnosed? Your doctor will diagnose aplastic anemia based on your medical and family histories, a ... your primary care doctor thinks you have aplastic anemia, he or she may refer you to a ...


How Is Fanconi Anemia Treated?  


... from the NHLBI on Twitter. How Is Fanconi Anemia Treated? Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how ... Long-term treatments for FA can: Cure the anemia. Damaged bone marrow cells are replaced with healthy ...


Anemia in hospitalized patients with pulmonary tuberculosis*  

PubMed Central

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

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



Anemia of inflammation.  


Inflammation arising from various etiologies, including infection, autoimmune disorders, chronic diseases, and aging, can promote anemia. The anemia of inflammation (AI) is most often normocytic and normochromic and is usually mild. Characteristic changes in systemic iron handling, erythrocyte production, and erythrocyte life span all contribute to AI. The preferred treatment is directed at the underlying disease. However, when the inflammatory insult is intractable, or the cause has not been diagnosed, there are limited options for treatment of AI. Because anemia is a comorbid condition that is associated with poor outcomes in various chronic disease states, understanding its pathogenesis and developing new tools for its treatment should remain a priority. Hepcidin antimicrobial peptide has taken center stage in recent years as a potent modulator of iron availability. As the technology for quantitative hepcidin analysis improves, hepcidin's role in various disease states is also being revealed. Recent insights concerning the regulatory pathways that modify hepcidin expression have identified novel targets for drug development. As the field advances with such therapeutics, the analysis of the impact of normalized hemoglobin on disease outcomes will confirm whether anemia is a reversible independent contributor to the morbidity and mortality associated with inflammatory diseases. PMID:21239806

Roy, Cindy N



Anemia and School Participation  

ERIC Educational Resources Information Center

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…

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



Sickle Cell Anemia Bibliography.  

ERIC Educational Resources Information Center

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.…

Christy, Steven C.


How to approach chronic anemia.  


We present herein an approach to diagnosing the cause of chronic anemia based on a patient's history and complete blood cell count (CBC). Four patterns that are encountered frequently in CBCs associated with chronic anemias are considered: (1) anemia with abnormal platelet and/or leukocyte counts, (2) anemia with increased reticulocyte counts, (3) life-long history of chronic anemia, and (4) anemia with inappropriately low reticulocytes. The pathophysiologic bases for some chronic anemias with low reticulocyte production are reviewed in terms of the bone marrow (BM) events that reduce normal rates of erythropoiesis. These events include: apoptosis of erythroid progenitor and precursor cells by intrinsic and extrinsic factors, development of macrocytosis when erythroblast DNA replication is impaired, and development of microcytosis due to heme-regulated eIF2? kinase inhibition of protein synthesis in iron-deficient or thalassemic erythroblasts. PMID:23233579

Koury, Mark J; Rhodes, Melissa



Fanconi anemia in Ashkenazi Jews.  


Fanconi anemia (FA) should be included among the genetic diseases that occur at high frequency in the Ashkenazi Jewish population. FA exhibits extensive genetic heterogeneity; there are currently 11 complementation groups reported, and 8 (i.e., FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, and FANCL) genes have been isolated. While patients may be from widely diverse ethnic groups, a single mutation in complementation group FA-C, c.711 + 4A > T (commonly known as IVS4 + 4A > T prior to current nomenclature rules) is unique to FA patients of Ashkenazi Jewish ancestry, and has a carrier frequency of greater than 1/100 in this population. In addition, a mutation (c.65G > A) in FANCA (FA-A is the most common complementation group in non-Jewish patients) and the mutation c.6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi. PMID:15516848

Kutler, David I; Auerbach, Arleen D



Investigation of macrocytic anemia.  


The three most common causes of macrocytosis--vitamin B12 or folate deficiency, liver disease, and reticulocytosis--usually can be differentiated on the basis of red cell indexes and morphologic findings. Bone marrow studies are not indicated. In reticulocytosis, the mean corpuscular volume (MCV) rarely exceeds ll0 cu mu and a reticulocyte count quickly establishes the diagnosis. In liver disease, macrocytosis is also mild and uniform. The RBCs are round. In megaloblastic anemia, the MCV may exceed 150 cu mu. The RBCs vary considerably in size and shape. The macrocytes tend to be oval. Serum vitamin B12 determination remains the best test for unmasking vitamin B12 deficiency. It should be ordered in conjunction with serum and red cell folate determinations in the course of investigating a macrocytic anemia. When vitamin B12 deficiency has been established, a Schilling test or plasma uptake test is indicated to pinpoint the cause. PMID:368738

Ward, P C



Anemia in Heart Failure Patients  

PubMed Central

Heart failure is a very common disease, with severe morbidity and mortality, and a frequent reason of hospitalization. Anemia and a concurrent renal impairment are two major risk factors contributing to the severity of the outcome and consist of the cardio renal anemia syndrome. Anemia in heart failure is complex and multifactorial. Hemodilution, absolute or functional iron deficiency, activation of the inflammatory cascade, and impaired erythropoietin production and activity are some pathophysiological mechanisms involved in anemia of the heart failure. Furthermore other concomitant causes of anemia, such as myelodysplastic syndrome and chemotherapy, may worsen the outcome. Based on the pathophysiology of cardiac anemia, there are several therapeutic options that may improve hemoglobin levels, tissues' oxygenation, and probably the outcome. These include administration of iron, erythropoiesis-stimulating agents, and blood transfusions but still the evidence provided for their use remains limited. PMID:22536520

Alexandrakis, Michael G.; Tsirakis, George



Anemia of chronic disease.  


Anemia of chronic disease (ACD) or inflammation may be secondary to infections, autoimmune disorders, chronic renal failure, or malignancies. It is characterized by an immune activation with an increase in inflammatory cytokines and resultant increase in hepcidin levels. In addition, inappropriate erythropoietin levels or hyporesponsiveness to erythropoietin and reduced red blood cell survival contribute to the anemia. Hepcidin being the central regulator of iron metabolism plays a key role in the pathophysiology of ACD. Hepcidin binds to the iron export protein, ferroportin, present on macrophages, hepatocytes, and enterocytes, causing degradation of the latter. This leads to iron trapping within the macrophages and hepatocytes, resulting in functional iron deficiency. Production of hepcidin is in turn regulated by iron stores, inflammation, and erythropoiesis via the BMP-SMAD and JAK-STAT signaling pathways. Treatment of anemia should primarily be directed at the underlying disease, and conventional therapy such as red blood cell transfusions, iron, erythropoietin, and novel agents targeting the hepcidin-ferroportin axis and signaling pathways (BMP-SMAD, JAK-STAT) involved in hepcidin production also may be considered. PMID:23953340

Gangat, Naseema; Wolanskyj, Alexandra P



Genetics Home Reference: Diamond-Blackfan anemia  


... literature OMIM Genetic disorder catalog Conditions > Diamond-Blackfan anemia On this page: Description Genetic changes Inheritance Diagnosis ... definitions Reviewed February 2012 What is Diamond-Blackfan anemia? Diamond-Blackfan anemia is a disorder of the ...


Avoiding Anemia: Boost Your Red Blood Cells  


... link, please review our exit disclaimer . Subscribe Avoiding Anemia Boost Your Red Blood Cells If you’re ... and sluggish, you might have a condition called anemia. Anemia is a common blood disorder that many ...


[Anemia, this time without iron deficiency].  


The approach to anemia by the primary care physician is to diagnose treatable causes like nutritional deficiencies, renal insufficiency, chronic inflammatory disease or hemolysis. Measurement of reticulocytes allows a distinction of hemolytic and non-hemolytic anemia. Among hemolytic anemias it is important to recognize rare but potentially severe diseases as autoimmune hemolytic anemia, microangiopathic anemia and certain hereditary anemias. Non-hemolytic anemias can be categorized in microcytic, normocytic and macrocytic subtypes. This allows a rational stepwise approach for each category. Most anemias can be correctly classified, evaluated for underlying disease and treated by the primary care physician. PMID:17405534

Gregor, M



FA (Fanconi Anemia) Family Newsletter  


Family Newsletter The Fanconi Anemia Research Fund publishes the FA Family Newsletter twice a year and mails it to all FA patients and their ... 888-326-2664 | 541-687-4658 Copyright 2014 Fanconi Anemia Research Fund, Inc. | Privacy Policy | Translate: Google Translate ...


Sickle Cell Anemia  

NSDL National Science Digital Library

In this case study on sickle cell anemia, students are introduced to some of the key researchers responsible for determining the molecular basis of the disease and learn about the functioning of erythrocytes as well as the notion that changes in the environment can influence the functioning of cells.  Students also become familiar with the process of osmosis and how it can influence the sickling of the erythrocytes.  Throughout the case, students must address experimental design questions. The case was designed for use in the first semester of an introductory majors biology course.

Stamper, Debra L.



[Mecobalamin improved pernicious anemia in an elderly individual with Hashimoto's disease and diabetes mellitus].  


A 73-year-old Japanese man with Hashimoto's disease and diabetes mellitus received regular medical checkups for type 2 diabetes care. Blood tests indicated macrocytic anemia (red blood cell count, 279×104 /?L; hemoglobin, 12.2 g/dL; hematocrit, 34.0%; mean corpuscular volume, 121.9 fL). The laboratory data demonstrated a normal folic acid level with a low vitamin B12 level. An endoscopic examination indicated no signs of gastric or intestinal bleeding. Positive results for anti-intrinsic factor antibodies were strongly suggestive of pernicious anemia. The patient refused cobalamin injections to treat the anemia. However, the oral administration of mecobalamin for the treatment of diabetic neuropathy was simultaneously initiated. Subsequently, the anemia gradually improved. Oral mecobalamin was presumably effective for pernicious anemia management. Anemia is frequently observed in elderly patients, and the incidence of pernicious anemia increases with age. Anemia is conventionally treated with cobalamin injections. Currently, the oral administration of mecobalamin is not the typical treatment for anemia. However, as in our case, a few reports have documented positive results following oral mecobalamin treatment. Moreover, oral mecobalamin is a fairly recent, novel, noninvasive mode of treatment, making it ideal for elderly patients, who are generally frail. This case suggests the efficacy of mecobalamin for the treatment of pernicious anemia. PMID:24047671

Izumi, Kenichi; Fujise, Takehiro; Inoue, Kanako; Mori, Hitoe; Yamazaki, Kouta; Hongou, Yui; Takagi, Satoko; Yamanouchi, Hiroko; Ashida, Kenji; Anzai, Keizo



Do You Know about Sickle Cell Anemia?  


Do You Know About Sickle Cell Anemia? KidsHealth > Kids > Health Problems > Blood > Do You Know About Sickle Cell Anemia? Print A A A Text Size What's in ... to stay in the hospital. What Causes Sickle Cell Anemia? Sickle cell anemia is an inherited (say: ...


Iron refractory iron deficiency anemia  

PubMed Central

Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in adulthood. The disease is refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia. To date, 40 different Matriptase-2 mutations have been reported, affecting all the functional domains of the large ectodomain of the protein. In vitro experiments on transfected cells suggest that Matriptase-2 cleaves Hemojuvelin, a major regulator of hepcidin expression and that this function is altered in this genetic form of anemia. In contrast to the low/undetectable hepcidin levels observed in acquired iron deficiency, in patients with Matriptase-2 deficiency, serum hepcidin is inappropriately high for the low iron status and accounts for the absent/delayed response to oral iron treatment. A challenge for the clinicians and pediatricians is the recognition of the disorder among iron deficiency and other microcytic anemias commonly found in pediatric patients. The current treatment of iron refractory iron deficiency anemia is based on parenteral iron administration; in the future, manipulation of the hepcidin pathway with the aim of suppressing it might become an alternative therapeutic approach. PMID:23729726

De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U.; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole



Molecular Pathogenesis of Fanconi Anemia  

Microsoft Academic Search

Fanconi anemia (FA) is a rare inherited disorder characterized clinically by aplastic anemia, developmental defects, and a susceptibility to cancer. Eleven complementation groups have been identified (FA-A, -B, -C, -D1, -D2, -E, -F, -G, -I, -J, and -L), and the genes responsible for 9 groups (FANCA, B, C, D1, D2, E, F, G, and L) have been cloned. The proteins

Natalie Collins; Gary M. Kupfer



Isolated microcytic anemia disclosing a unicentric Castleman disease: The interleukin-6/hepcidin pathway?  


Castleman disease (CD) is a rare lymphoproliferative disorder of uncertain origin. Anemia is commonly reported and is related to an inflammatory mechanism. Occasionally an autoimmune hemolytic anemia appears as the leading clinical feature. Three histological types have been differentiated, a hyaline-vascular type (HV), a plasma cell type (PC), and a mixed type. Clinically CD is separated into unicentric (localized) or multicentric (generalized) forms. The former is most frequently of HV type (80-90%), affecting a single lymph node. The PC type is encountered in 10-20% of the unicentric CD and in almost all of the multicentric cases. Numerous systemic manifestations have been described usually associated with PC type. An isolated and markedly microcytic anemia revealing a unicentric CD has never been reported in English literature. Recent data concerning iron metabolism, interleukin-6 and hepcidin provide interesting clues to understand the particular microcytic anemia of CD. PMID:18549942

Vinzio, Stéphane; Ciarloni, Laetitia; Schlienger, Jean-Louis; Rohr, Serge; Méchine, Agnès; Goichot, Bernard



Sexuality and sickle cell anemia  

PubMed Central

Background Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S) which, when homozygous (Hb SS) is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objectives of this exploratory and descriptive study were to characterize the development of sexuality in adults with sickle cell anemia by investigating the patient's perception of their sex life, as well as the information they had and needed on this subject. Methods Twenty male and female sickle cell anemia patients treated at the Hemocentro Regional de Uberaba (UFTM) with ages between 19 and 47 years old were enrolled. A socioeconomic questionnaire and a semi-structured interview on sexuality, reproduction and genetic counseling were applied. Results This study shows that the sickle cell anemia patients lacked information on sexuality especially about the risks of pregnancy and the possible inheritance of the disease by their children. Moreover, the sexual life of the patients was impaired due to pain as well as discrimination and negative feelings experienced in close relationships. Conclusion The health care of sickle cell anemia patients should take into account not only the clinical aspects of the disease, but also psychosocial aspects by providing counseling on sexuality, reproduction and genetics, in order to give this population the possibility of a better quality of life. PMID:23741184

Cobo, Viviane de Almeida; Chapadeiro, Cibele Alves; Ribeiro, Joao Batista; Moraes-Souza, Helio; Martins, Paulo Roberto Juliano



Q uantitative Analysis of the Normal and Four Alternative Degrees of an Inherited Macrocytic Anemia in the House Mouse I. Number and Size of Erythrocytes  

Microsoft Academic Search

splenomegalic anemia,' siderocyte anemia ,' macrocytic anemia.3 6 These offer excellent material for detailed studies of the nature and causes of these types of anemias, since large numi)ers of affected ind!ividuals can be easily obtained. Early pre-anemic stages (if such exist) can be studied w'it.h full knowl- edge of w'hat their later development w'ould i)e, and comparable individuals w'ith and



Erythroferrone contributes to recovery from anemia of inflammation.  


Erythroferrone (ERFE) is an erythropoiesis-driven regulator of iron homeostasis. ERFE mediates the suppression of the iron-regulatory hormone hepcidin to increase iron absorption and mobilization of iron from stores. We examined the role of ERFE in the recovery from anemia of inflammation (AI) induced by injection of heat-killed Brucella abortus. B abortus-treated wild-type mice developed a moderate anemia and reached nadir hemoglobin 14 days after injection and partially recovered by 28 days. We observed that Erfe expression in the bone marrow and the spleen was greatly increased during anemia and peaked at 14 days after injection, a time course similar to serum erythropoietin. To determine whether ERFE facilitates the recovery from anemia, we analyzed Erfe-deficient mice injected with B abortus. Compared with wild-type mice, Erfe-deficient mice exhibited a more severe anemia, had higher hepcidin levels and consequently lower serum iron concentration on days 14 and 21, and manifested impaired mobilization of iron from stores (liver and spleen). Erfe(-/-) mice eventually compensated by further stimulating erythropoiesis and reticulocyte production. Thus, ERFE contributes to the recovery from AI by suppressing hepcidin and increasing iron availability. PMID:25193872

Kautz, Léon; Jung, Grace; Nemeth, Elizabeta; Ganz, Tomas



Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi’s anemia, type Estren-Dameshek  

Microsoft Academic Search

Fraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations. In blood cultures the incidence of chromatid breaks, exchanges, and chromosome-type aberrations was elevated to 24 %, 18 %, and 28 %, respectively. In addition, in

W. Schmid; G. Fanconi



Impairment of Bone Health in Pediatric Patients with Hemolytic Anemia  

PubMed Central

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

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



What Are the Signs and Symptoms of Anemia?  


... Twitter. What Are the Signs and Symptoms of Anemia? The most common symptom of anemia is fatigue ( ... mild symptoms or none at all. Complications of Anemia Some people who have anemia may have arrhythmias ( ...


Fanconi anemia and ubiquitination.  


Fanconi anemia (FA) is a rare recessive hereditary disease characterized clinically by congenital defects, progressive bone-marrow failure, and cancer predisposition. Cells from FA patients exhibit hypersensitivity to DNA cross-linking agents, such as mitomycin C (MMC). To date, at least 12 FA genes have been found deleted or mutated in FA cells, and 10 FA gene products form a core complex involved in FA/BRCA2 DNA repair pathway?FA pathway. The ubiquitin E3 ligase FANCL, an important factor of FA core complex, co-functions with a new ubiquitin conjugating enzyme UBE2T to catalyze the monoubiquitination of FANCD2. FANCD2-Ub binds BRCA2 to form a new complex located in chromatin foci and then take part in DNA repair process. The deubiquitylating enzyme USP1 removes the mono-ubiquitin from FANCD2-Ub following completion of the repair process, then restores the blocked cell cycle to normal order by shutting off the FA pathway. In a word, the FANCD2 activity adjusted exquisitely by ubiquitination and/or deubiquitination in vivo may co-regulate the FA pathway involving in variant DNA repair pathway. PMID:17643942

Zhang, Yingying; Zhou, Xiaowei; Huang, Peitang



Malaria, erythrocytic infection, and anemia.  


Malaria is a major world health problem. It results from infection of parasites belonging to the genus Plasmodium. Plasmodium falciparum and Plasmodium vivax cause the major human malarias, with P falciparum being the more virulent. During their blood stages of infection, both P falciparum and P vivax induce anemia. Severe malarial anemia caused by P falciparum is responsible for approximately a third of the deaths associated with disease. Malarial anemia appears to be multi-factorial. It involves increased removal of circulating erythrocytes as well as decreased production of erythrocytes in the bone marrow. The molecular mechanisms underlying malarial anemia are largely unknown. Over the last five years, malaria parasite ligands have been investigated for their remodeling of erythrocytes and possible roles in destruction of mature erythrocytes. Polymorphisms in cytokines have been associated with susceptibility to severe malarial anemia: these cytokines and malaria "toxins" likely function by perturbing erythropoiesis. Finally a number of co-infections increase susceptibility to malarial anemia, likely because they exacerbate inflammation caused by malaria. Because of the complexities involved, the study of severe malarial anemia may need a "systems approach" to yield comprehensive understanding of defects in both erythropoiesis and immunity associated with disease. New and emerging tools such as (i) mathematical modeling of the dynamics of host control of malarial infection, (ii) ex vivo perfusion of human spleen to measure both infected and uninfected erythrocyte retention, and (iii) in vitro development of erythroid progenitors to dissect responsiveness to cytokine imbalance or malaria toxins, may be especially useful to develop integrated mechanistic insights and therapies to control this major and fatal disease pathology. PMID:20008186

Haldar, Kasturi; Mohandas, Narla



Homocystinuria: A rare condition presenting as stroke and megaloblastic anemia  

PubMed Central

Homocystinuria is an inborn error of amino acid metabolism in which homocystine accumulates in the blood and produces a slowly evolving clinical syndrome. We are presenting a case of a 4-year-old female child who presented to us with stroke and also had megaloblastic anemia. She was diagnosed as having homocystinuria type-1, and she responded to treatment. PMID:21559159

Bhardwaj, Parveen; Sharma, Ravi; Sharma, Minoo



How Is Sickle Cell Anemia Treated?  


... from the NHLBI on Twitter. How Is Sickle Cell Anemia Treated? Sickle cell anemia has no widely ... severity of the disease. Blood and Marrow Stem Cell Transplant A blood and marrow stem cell transplant ...


Who Is at Risk for Anemia?  


... such as kidney disease, cancer, diabetes, rheumatoid arthritis, HIV/AIDS, inflammatory bowel disease (including Crohn's disease), liver disease, heart failure , and thyroid disease Long-term infections A family history of inherited anemia, such as sickle cell anemia ...


FastStats: Anemia or Iron Deficiency  


... State and Territorial Data NCHS Home FastStats Home Anemia or Iron Deficiency Data are for the U.S. ... care Number of visits to emergency departments with anemia as the primary diagnosis: 209,000 Source: National ...


How Is Sickle Cell Anemia Diagnosed?  


... the NHLBI on Twitter. How Is Sickle Cell Anemia Diagnosed? A simple blood test, done at any ... States, all States mandate testing for sickle cell anemia as part of their newborn screening programs. The ...


Heart failure and anemia: mechanisms and pathophysiology  

Microsoft Academic Search

Anemia is a common comorbidity in patients with heart failure and affects up to 50% of patients, depending on the definition\\u000a of anemia used and on the population studied. Presence of anemia and lower hemoglobin (Hgb) concentrations are powerful independent\\u000a predictors of adverse outcomes in heart failure. Even small reductions in Hgb are associated with worse outcomes. Correction\\u000a of anemia

Inder S. Anand



Erythropoietic stress and anemia in diabetes mellitus  

Microsoft Academic Search

Anemia is one of the world's most common preventable conditions, yet it is often overlooked, especially in people with diabetes mellitus. Diabetes-related chronic hyperglycemia can lead to a hypoxic environment in the renal interstitium, which results in impaired production of erythropoietin by the peritubular fibroblasts and subsequent anemia. Anemia in patients with diabetes mellitus might contribute to the pathogenesis and

Peter Winocour; Dhruv K. Singh; Ken Farrington



Living with Sickle Cell Anemia  


... specific stresses related to sickle cell anemia, including: Body-image problems caused by delayed sexual maturity. Coping with pain and fear of addiction from using strong pain medicines. Living with ... pain and damage to the body at any time.) Teen support groups and family ...


Treatment of Sickle Cell Anemia.  

National Technical Information Service (NTIS)

The patent application relates to the discovery that cyanate, such as a 0.01-1.0M potassium cyanate solution, is useful to prevent the sickling of the red blood cells of sickle cell anemia patients. It has also been discovered that red blood cells when ta...

A. Cerami, J. M. Manning



Cooley's Anemia: A Psychosocial Directory.  

ERIC Educational Resources Information Center

The directory is intended to aid patients and their families who are coping with the genetic disorder of Cooley's anemia. A brief review of the disease covers background, genetics, symptoms, effect on the patient, treatment, and current research. The next section looks at psychosocial needs at various times (time of diagnosis, infancy and toddler…

National Center for Education in Maternal and Child Health, Washington, DC.


An anemia of Alzheimer's disease.  


Lower hemoglobin is associated with cognitive impairment and Alzheimer's disease (AD). Since brain iron homeostasis is perturbed in AD, we investigated whether this is peripherally reflected in the hematological and related blood chemistry values from the Australian Imaging Biomarker and Lifestyle (AIBL) study (a community-based, cross-sectional cohort comprising 768 healthy controls (HC), 133 participants with mild cognitive impairment (MCI) and 211 participants with AD). We found that individuals with AD had significantly lower hemoglobin, mean cell hemoglobin concentrations, packed cell volume and higher erythrocyte sedimentation rates (adjusted for age, gender, APOE-?4 and site). In AD, plasma iron, transferrin, transferrin saturation and red cell folate levels exhibited a significant distortion of their customary relationship to hemoglobin levels. There was a strong association between anemia and AD (adjusted odds ratio (OR)=2.43, confidence interval (CI) (1.31, 4.54)). Moreover, AD emerged as a strong risk factor for anemia on step-down regression, even when controlling for all other available explanations for anemia (adjusted OR=3.41, 95% CI (1.68, 6.92)). These data indicated that AD is complicated by anemia, which may itself contribute to cognitive decline. PMID:24419041

Faux, N G; Rembach, A; Wiley, J; Ellis, K A; Ames, D; Fowler, C J; Martins, R N; Pertile, K K; Rumble, R L; Trounson, B; Masters, C L; Bush, A I




E-print Network

9/16/2013 1 MEGALOBLASTIC AND OTHER MACROCYTIC ANEMIA MACROCYTOSIS MCV > 100 fL MCHC ­ Normal False LABORATORY FINDINGS Peripheral Blood Macrocytic, Normochromic Leukocytes and Platelets Decreased Oval Macrocytes Hypersegmented Neutrophils LABORATORY FINDINGS Bone Marrow Hypercellular Decreased M:E ratio


[Anemia as a surgical risk factor].  


Perioperative anemia is common in patients undergoing surgery and is associated with increased morbidity and mortality and a decreased quality of life. The main causes of anemia in the perioperative context are iron deficiency and chronic inflammation. Anemia can be aggravated by blood loss during surgery, and is most commonly treated with allogeneic transfusion. Moreover, blood transfusions are not without risks, once again increasing patient morbidity and mortality. Given these concerns, we propose to review the pathophysiology of anemia in the surgical environment, as well as its treatment through the consumption of iron-rich foods and by oral or intravenous iron therapy (iron sucrose and iron carboxymaltose). In chronic inflammatory anemia, we use erythropoiesis-stimulating agents (erythropoietin alpha) and, in cases of mixed anemia, the combination of both treatments. The objective is always to reduce the need for perioperative transfusions and speed the recovery from postoperative anemia, as well as decrease the patient morbidity and mortality rate. PMID:24314568

Moral García, Victoria; Ángeles Gil de Bernabé Sala, M; Nadia Diana, Kinast; Pericas, Bartolomé Cantallops; Nebot, Alexia Galindo



Hematological parameters and prevalence of anemia among free-living elderly in south Brazil  

PubMed Central

Objective The aims of this study were to analyze the hematological parameters, the prevalence of anemia and the association between anemia and socioeconomic conditions in an elderly community-based population. Methods A population-based study was performed as part of the Multidimensional Study of the Elderly in Porto Alegre, Brazil (EMIPOA). An initial total of 1058 community residents aged 60 years and older were interviewed. Of these, 392 agreed to have a physical evaluation and a blood sample was taken from each. The hematological parameters analyzed in the blood samples included the hemoglobin concentration, mean cell volume (MCV), mean corpuscular hemoglobin concentration (MCHC) and red cell distribution width (RDW). The association between the variables and the diagnosis of anemia was assessed using the chi-squared test and a multiple logistic regression model. Results The overall prevalence of anemia was 12.8%. Anemia was present in 13.7% of women and in 10.4% of men. Normocytic normochromic anemia without anisocytosis was the most common type of anemia (46%). The assessment of erythrocyte morphology showed significant differences between anemic and non-anemic individuals (microcytosis = 12% vs. 1.5%, hypochromia = 40% vs. 8.8%, and anisocytosis = 26% vs. 7%). In the analysis of socioeconomic conditions, significant differences were found in respect to age and race. Conclusion The prevalence of anemia increases with age and is associated with race, microcytosis, hypochromia and anisocytosis. Anemia is not a condition that should be associated only with the aging process, as it may be due to pathological conditions that occur most frequently in this age group. As a result, a diagnosis of anemia warrants adequate clinical attention. PMID:23741189

Sgnaolin, Vanessa; Engroff, Paula; Ely, Luisa Scheer; Schneider, Rodolfo Herberto; Schwanke, Carla Helena Augustin; Gomes, Irenio; Morrone, Fernanda Bueno; de Carli, Geraldo Attilio



Epidemiology of anemia in older adults.  


Anemia is a common, multifactorial condition among older adults. The World Health Organization (WHO) definition of anemia (hemoglobin concentration <12 g/dL in women and <13 g/dL in men) is most often used in epidemiologic studies of older adults. More than 10% of community-dwelling adults age 65 years and older has WHO-defined anemia. After age 50 years, prevalence of anemia increases with advancing age and exceeds 20% in those 85 years and older. In nursing homes, anemia is present in 48% to 63% of residents. Incidence of anemia in older adults is not well characterized. Among older adults with anemia, approximately one third have evidence of iron, folate, and/or vitamin B(12) deficiency, another third have renal insufficiency and/or chronic inflammation, and the remaining third have anemia that is unexplained. Several studies demonstrate that anemia is associated with poorer survival in older adults. This review details the distribution and consequences of anemia in older adults and identifies future epidemiologic research needs. PMID:18809090

Patel, Kushang V



Fanconi anemia - learning from children  

PubMed Central

Fanconi Anemia (FA) is a rare autosomic recessive and X-linked disease with chromosomal instability after exposure to crosslinking agents as the hallmark. Clinical features of FA are somatic malformations, progressive bone marrow failure and cancer proneness, however there is wide clinical heterogeneity. The symptom most frequently and early associated with morbidity and mortality is progressive pancytopenia in the first decade of life although acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) can appear before aplastic anemia. Squamous cell carcinoma (SCC) of the head-neck, intestinal or genital tract has a very high incidence in FA and can appear at young age. This paper will focus on treatment of bone marrow failure in FA. PMID:22053284

Svahn, Johanna; Dufour, Carlo



Colonic lymphangiomatosis associated with anemia  

PubMed Central

Lymphangioma is an uncommon malformation of lymphatic system. Multiple colonic lymphangioma named as lymphangiomatosis is considered an extremely rare disease. Although lymphangioma is a benign tumor and most colonic lymphangiomas do not cause symptoms and do not require treatment, resection of lymphangioma is necessary in the presence of symptoms such as abdominal pain, bleeding, intussusceptions. We report a case of colonic lymphangiomatosis in a man who presented with abdominal discomfort and anemia, which was diagnosed and treated with endoscopic snare polypectomy. PMID:18837097

Chung, Woo Chul; Kim, Hye-Kang; Yoo, Jin Young; Lee, Jeong Rok; Lee, Kang-Moon; Paik, Chang Nyol; Jang, U-Im; Yang, Jin Mo



Refractory anemia with ring sideroblasts.  


Refractory anemia with ring sideroblasts (RARS) is a subtype of myelodysplastic syndrome (MDS) characterized by 15% or more ring sideroblasts in the bone marrow according to the WHO classification. After Perls staining, ring sideroblasts are defined as erythroblasts in which there are 5 or more siderotic granules covering at least a third of the nuclear circumference. The iron deposited in perinuclear mitochondria of ring sideroblasts is present in the form of mitochondrial ferritin. The molecular basis of MDS with ring sideroblasts has remained unknown until recently. In 2011, whole exome sequencing studies revealed somatic mutations of SF3B1, a gene encoding a core component of RNA splicing machinery, in myelodysplasia with ring sideroblasts. The close relationship between SF3B1 mutation and ring sideroblasts is consistent with a causal relationship, and makes SF3B1 the first gene to be associated with a specific morphological feature in MDS. RARS is mainly characterized by isolated anemia due to ineffective erythropoiesis, and its clinical course is generally benign, although there is a tendency to worsening of anemia in most patients over time. By contrast, refractory cytopenia with multilineage dysplasia and ring sideroblasts (RCMD-RS) is characterized by pancytopenia and dysplasia in two or more myeloid cell lineages. More importantly, patients with RCMD-RS have a higher risk of developing bone marrow failure or progressing to acute myeloid leukemia (AML). Refractory anemia with ring sideroblasts (RARS-T) associated with marked thrombocytosis is a myelodysplastic/myeloproliferative neoplasm associated with both SF3B1 and JAK2 or MPL mutations. RARS-T may develop from an SF3B1 mutated RARS through the acquisition of a JAK2 or MPL mutations in a subclone of hematopoietic cells. PMID:24507814

Malcovati, Luca; Cazzola, Mario



Anemia Among Hospitalized Children at a Multispecialty Hospital, Bangalore (Karnataka), India  

PubMed Central

Background: Due to the limited availability of data related to anemia in hospitalized children, this research was conducted to study the occurrence, morphological patterns, distribution in different age groups, sex, and severity of anemia among children aged 6 months-12 years. Setting: Inpatients in department of pediatrics at a multispecialty hospital, Bangalore. Study Design: Descriptive cross sectional study from Oct, 2011 to Sep, 2012. Materials and Methods: Ethical clearance was obtained from the ethical committee of the hospital as per 1964 Declaration of Helsinki. Unrestricted random sampling method was used to select the study group consisting of 882 children between the age of 6 months and 12 years. After obtaining the consent, data were obtained and statistically analyzed using statistical tools like mean, median, standard deviation, and Chi-square test. Results: Out of 882 children selected, 642 (72.79%) were anemic, out of which a majority of 629 (98%) children suffered from nonhemoglobinopathies and a meagre 13 (2%) suffered from hemoglobinopathies. Children in the age group of 6 months-1 year were most affected with nonhemoglobinopathies (33%). Moderate degree of anemia (hemoglobin = 7-9.9 g/dL) was the commonest grade of anemia (80%), while microcytic hypochromic anemia was commonest morphological type of anemia (48%). Among hemoglobinopathies, thalassemia major was the most common (69%, that is 9 out of 13 patients). Conclusion: The occurrence of anemia among children aged between 6 months and 12 years is high and nonhemoglobinopathies predominate over the hemoglobinopathies. PMID:24791237

Saba, Firdos; Poornima, Siddaraju; Balaji, Pishey Ashwathnarayan Rao; Varne, Smitha Ranoji Rao; Jayashree, Krishnamurthy



[Anemia in chronic kidney disease].  


Anemia is almost unavoidable in the last stages of chronic kidney disease. It is defined as a condition where hemoglobin concentration is below 2 standard deviations from the mean hemoglobin level of the general population, corrected for age and sex (typically, hemoglobin < 13 g/dL in adults and 12 g/dL in women). Although the cause is multi-factorial, the most known is inadequate erythropoietin production. Anemia has been associated with poor prognosis in patients with several conditions such as cancer, chronic kidney disease and congestive heart failure. Treatment with erythropoiesis-stimulating agents, such as erythropoietin, is a logical strategy that has enabled clinical improvement and reduced transfusion requirements for the patients; however, total correction of anemia with erythropoiesis-stimulating agents has demonstrated an increase in the risk of mortality or cardiovascular complications associated with these agents. In randomized trials, the achievement of normal or nearly normal hemoglobin levels is not associated with improved survival and reduced cardiovascular risk; however the ideal hemoglobin level with the use of erythropoiesis-stimulating agents seems to be problematic. More information is needed in order to obtain definite conclusions; in the meantime, using the lowest possible dose of erythropoietin seems to be the most prudent approach. PMID:25354060

Amador-Medina, Lauro Fabián



Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children.  


Diamond-Blackfan anemia is a rare, inherited disease that characteristically presents as a chronic, normochromic macrocytosis due to red cell lineage bone marrow failure. Although studies are elaborating on the genetic basis for its associated comorbidities, little has been published comparing this anemia to other chronic anemias that have similar laboratory results in children. This article offers a global perspective of the disease and compares it with anemia due to vitamin B12 and folate deficiency in children. PMID:24662257

Gelbart, David



Anemia and Iron Deficiency in Developing Countries  

Microsoft Academic Search

Iron deficiency and anemia are major public health concerns throughout the world and are of special concern in many developing\\u000a countries where the incidence and severity of anemia in certain populations is very high. Pregnant women, women of childbearing\\u000a age, and young children are especially vulnerable to iron deficiency and iron-deficiency anemia (IDA) because of increased\\u000a iron needs during growth

Usha Ramakrishnan; Beth Imhoff-Kunsch


What Are the Signs and Symptoms of Sickle Cell Anemia?  


... What Are the Signs and Symptoms of Sickle Cell Anemia? The signs and symptoms of sickle cell ... who have sickle cell anemia. Complications of Sickle Cell Anemia Sickle cell crises can affect many parts ...


Genetics Home Reference: Thiamine-responsive megaloblastic anemia syndrome  


... OMIM Genetic disorder catalog Conditions > Thiamine-responsive megaloblastic anemia syndrome On this page: Description Genetic changes Inheritance ... Reviewed February 2009 What is thiamine-responsive megaloblastic anemia syndrome? Thiamine-responsive megaloblastic anemia syndrome is a ...


Genetics Home Reference: X-linked sideroblastic anemia  


... OMIM Genetic disorder catalog Conditions > X-linked sideroblastic anemia On this page: Description Genetic changes Inheritance Diagnosis ... Reviewed April 2009 What is X-linked sideroblastic anemia? X-linked sideroblastic anemia is an inherited disorder ...


Genetics Home Reference: Iron-refractory iron deficiency anemia  


... Genetic disorder catalog Conditions > Iron-refractory iron deficiency anemia On this page: Description Genetic changes Inheritance Diagnosis ... July 2014 What is iron-refractory iron deficiency anemia? Iron-refractory iron deficiency anemia is one of ...


Genetics Home Reference: X-linked sideroblastic anemia and ataxia  


... OMIM Genetic disorder catalog Conditions > X-linked sideroblastic anemia and ataxia On this page: Description Genetic changes ... Reviewed April 2009 What is X-linked sideroblastic anemia and ataxia? X-linked sideroblastic anemia and ataxia ...


Anemia - Multiple Languages: MedlinePlus  


... Arabic (???????) Bosnian (Bosanski) Chinese - Simplified (????) French (français) Hindi (??????) Japanese (???) Korean (???) Russian ( ... PDF Health Information Translations Return to top French (français) Anemia Anémie - français (French) Bilingual PDF Health Information ...


Auto-immune hemolytic anemia in two horses.  


Two cases of Auto-immune hemolytic anemia (AHA) in the horse are described. The pathogenesis of AHA in man is related to the findings in the horses. Besides from routine hematological and biochemical investigations specific data were obtained from the erythrocyte osmotic fragility test, the Coombs test, the serum haptoglobulin level and the cold agglutinin test. The first patient, a six month old Dutch standardbred colt, probably suffered from an acute attack of cold-induced hemoglobinuria with severe anemia and acronecrosis of the tops of both ears and of several parts of the skin that had been in close contact with the cold floor. The second patient, a nine years old Friesian mare, showed a type of AHA resembling the acute hemolyte type of cold agglutinin disease in man. This patient had a clear septicemic picture, extensive bacteriological examination, however, was negative. PMID:1162684

Lokhorst, H M; Breukink, H J



Management of Anemia in Children Receiving Chronic Peritoneal Dialysis  

PubMed Central

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

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 Dario; White, Colin; Pape, Lars; Ramela, Virginia; Printza, Nikoleta; Vogel, Andrea; Kuzmanovska, Dafina; Simkova, Eva; Muller-Wiefel, Dirk E.; Sander, Anja; Warady, Bradley A.



Prevalence and Predictors of Maternal Anemia during Pregnancy in Gondar, Northwest Ethiopia: An Institutional Based Cross-Sectional Study  

PubMed Central

Background. Anaemia is a global public health problem which has an eminence impact on pregnant mother. The aim of this study was to assess the prevalence and predictors of maternal anemia. Method. A cross-sectional study was conducted from March 1 to April 30, 2012, on 302 pregnant women who attended antenatal care at Gondar University Hospital. Interview-based questionnaire, clinical history, and laboratory tests were used to obtain data. Bivariate and multivariate logistic regression was used to identify predictors. Result. The prevalence of anemia was 16.6%. Majority were mild type (64%) and morphologically normocytic normochromic (76%) anemia. Anemia was high at third trimester (18.9%). Low family income (AOR [95% CI] = 3.1 [1.19, 8.33]), large family size (AOR [95% CI] = 4.14 [4.13, 10.52]), hookworm infection (AOR [95% CI] = 2.72 [1.04, 7.25]), and HIV infection (AOR [95% CI] = 5.75 [2.40, 13.69]) were independent predictors of anemia. Conclusion. The prevalence of anemia was high; mild type and normocytic normochromic anemia was dominant. Low income, large family size, hookworm infection, and HIV infection were associated with anemia. Hence, efforts should be made for early diagnosis and management of HIV and hookworm infection with special emphasis on those having low income and large family size. PMID:24669317

Alem, Meseret; Enawgaw, Bamlaku



Anemia following Roux-en-Y surgery for morbid obesity: a review.  


Morbid obesity is a significant problem in the Western world. Recently, there has been an increase in the number of patients undergoing surgical weight loss procedures. Currently, the most widely performed procedure is the Roux-en-Y gastric bypass operation which combines restriction of food intake with malabsorption of calories and various nutrients, resulting in weight loss and nutritional deficiencies, respectively. Various types of anemia may complicate Roux-en-Y and commonly include deficiencies of iron, folate, and vitamin B12. Iron deficiency is particularly common and may result from many mechanisms including poor intake, malabsorption, and mucosal bleeding from marginal ulceration. However, less appreciated etiologies of nutritional anemia include deficiencies of B-complex vitamins, ascorbic acid, and copper. Replacement of the missing or decreased constituent usually reverses the anemia. Since physicians of various medical and surgical specialties are often involved with the postoperative care of bariatric patients, a review of anemia in this patient population is warranted. PMID:18791538

Marinella, Mark A



Aplastica Anemia And Viral Hepatitis  

PubMed Central

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

Cudillo, Laura



9 CFR 311.34 - Anemia.  

Code of Federal Regulations, 2010 CFR

...Animal Products 2 2010-01-01 2010-01-01 false Anemia. 311.34 Section 311.34 Animals and Animal Products...DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.34 Anemia. Carcasses of livestock too anemic to produce wholesome...



The Student with Sickle Cell Anemia.  

ERIC Educational Resources Information Center

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)

Tetrault, Sylvia M.



Pathology Case Study: Macrocytic Anemia  

NSDL National Science Digital Library

This is a case study presented by the University of Pittsburgh Department of Pathology in which an older man suffering from chronic bronchitis and macrocytic anemia also developed persistent flu symptoms. Visitors view the microscopic and gross descriptions, including images, and have the opportunity to diagnose the patient. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose disease. It is also a helpful site for educators to use to introduce or test student learning in hematopathology.

Bahler, David; Kulich, Scott; Shekhter-Levin, Sofia



Treatment of autoimmune hemolytic anemias  

PubMed Central

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

Zanella, Alberto; Barcellini, Wilma



Treatment of autoimmune hemolytic anemias.  


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

Zanella, Alberto; Barcellini, Wilma





... your body. Some foods or medicines, including milk, antacids or stomach acid-lowering medicines, also can prevent ... Avoid these foods when eating iron-rich foods. Antacids and some other medicines that contain calcium also ...


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

PubMed Central

Objectives 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. Methods We examined the relationship between maternal knowledge of anemia and anemia in the mother and the youngest child, aged 6–59 mo, 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. Results 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 [O.R.] 0.90, 95% Confidence Interval [C.I.] 0.79, 1.02, P = 0.10; O.R. 0.93, 95% C.I. 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. Conclusions Maternal knowledge of anemia is associated with lower odds of anemia in children and with some health behaviors related to reducing anemia. PMID:22241619

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



Iron-refractory iron deficiency anemia (IRIDA).  


Iron deficiency anemia is a common global problem whose etiology is typically attributed to acquired inadequate dietary intake and/or chronic blood loss. However, in several kindreds multiple family members are affected with iron deficiency anemia that is unresponsive to oral iron supplementation and only partially responsive to parenteral iron therapy. The discovery that many of these cases harbor mutations in the TMPRSS6 gene led to the recognition that they represent a single clinical entity: iron-refractory iron deficiency anemia (IRIDA). This article reviews clinical features of IRIDA, recent genetic studies, and insights this disorder provides into the regulation of systemic iron homeostasis. PMID:25064705

Heeney, Matthew M; Finberg, Karin E



High anemia prevalence in western China.  


We assessed the prevalence of anemia among schoolchildren in western China as determined by seven cross-sectional surveys involving 12,768 children aged 8-12 years. Subjects were selected randomly from 283 primary schools in 41 economically disadvantaged counties of Ningxia, Qinghai, Shaanxi and Sichuan Provinces. Data were collected through questionnaires and hemoglobin levels were measured. The anemia prevalence was 34% using the WHO hemoglobin cutoff of < 120 g/l. Boarding students and girls were more likely to be anemic. The prevalence of anemia in schoolchildren was high. Iron deficiency is a significant nutrition issue in China. PMID:22299447

Luo, Renfu; Wang, Xiaobing; Zhang, Linxiu; Liu, Chengfang; Shi, Yaojiang; Miller, Grant; Rozelle, Scott; Yu, Elaine; Martorell, Reynaldo



Protrusio acetabuli in sickle-cell anemia  

SciTech Connect

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.

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



Clinical management of aplastic anemia  

PubMed Central

Acquired aplastic anemia is a potentially fatal bone marrow failure disorder that is characterized by pancytopenia and a hypocellular bone marrow. Hematopoietic stem-cell transplantation or bone marrow transplantation (BMT) is the treatment of choice for young patients who have a matched sibling donor. Immunosuppression with either anti-thymocyte globulin and cyclosporine or high-dose cyclophosphamide is an effective therapy for patients who are not suitable BMT candidates owing to age or lack of a suitable donor. Results of BMT from unrelated and mismatched donors are improving, but presently this treatment option is best reserved for those patients who do not respond, relapse or develop secondary clonal disorders following immunosuppressive therapy. Efforts are currently underway to both improve immunosuppressive regimens and to expand the application of BMT. PMID:21495931

DeZern, Amy E; Brodsky, Robert A



TNF-? signaling in Fanconi anemia.  


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 contributing 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

Du, Wei; Erden, Ozlem; Pang, Qishen



Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction.  


Fanconi anemia is a cancer-prone inherited bone marrow failure and cancer susceptibility syndrome with at least 13 complementation groups (FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, and FANCN). Our laboratory has previously described several regulatory phosphorylation events for core complex member proteins FANCG and FANCA by phosphorylation. In this study, we report a novel phosphorylation site serine 331 (S331) of FANCD2, the pivotal downstream player of the Fanconi anemia pathway. Phosphorylation of S331 is important for its DNA damage-inducible monoubiquitylation, resistance to DNA cross-linkers, and in vivo interaction with FANCD1/BRCA2. A phosphomimetic mutation at S331 restores all of these phenotypes to wild-type. In vitro and in vivo experiments show that phosphorylation of S331 is mediated by CHK1, the S-phase checkpoint kinase implicated in the Fanconi anemia DNA repair pathway. PMID:19861535

Zhi, Gang; Wilson, James B; Chen, Xiaoyong; Krause, Diane S; Xiao, Yuxuan; Jones, Nigel J; Kupfer, Gary M



Anemia caused by low iron - children  


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 .


Sickle Cell Anemia: New Approaches To Therapy.  

National Technical Information Service (NTIS)

This citation summarizes a one-page announcement of technology available for utilization. Patients with sickle cell anemia experience unpredictable episodes of severe, sometimes disabling pain in the joints, abdomen, or spine, episodes that may last from ...



[Equine infectious anemia--a review].  


This article combines essential facts of equine infectious anemia. Beside etiology and epidemiology, emphasis is put on the clinical course and laboratory diagnosis. Finally, control measures and prophylactic issues are discussed. PMID:25080822

Haas, Ludwig



Anemia in children with chronic kidney disease.  


Anemia in children with chronic kidney disease (CKD) is common secondary to inadequate erythropoietin production, iron deficiency, blood loss, inflammation, secondary hyperparathyroidism, uremic toxins, and nutritional deficiencies. Anemia has a variety of deleterious consequences, including associations with increased mortality and left ventricular hypertrophy. Recombinant human erythropoietin is effective in treating anemia in children with CKD, and recent studies show that darbepoetin alpha is an attractive alternative because it requires less frequent injections. Iron deficiency is a major cause of anemia that is resistant to erythropoietin or darbepoetin alpha. Although oral iron is effective in some patients, many children, especially those receiving hemodialysis, require intravenous iron to replenish their iron stores. Both acute dosing and chronic dosing of intravenous iron are effective in pediatric patients. PMID:16198278

Greenbaum, Larry A



Fanconi’s anemia in monozygotic twins  

Microsoft Academic Search

Fanconi’s anemia is one of the inherited causes of bone marrow failure. It is inherited in autosomal recessive fashion. It\\u000a presents as aplastic anemia usually at the age of 7–8 yr. Leukemias and solid tumours are complications in those who manage\\u000a to survive beyond two decades. Though it has been seen in siblings, reports in monozygotic twins have been very

Fulton D’souza; M. K. Usha; S. D. Subba Rao



Gametophyte development in Anemia mexicana Klotzsch  

E-print Network

GAMETOPHYTE DEVELOPMENT IN ANEMIA MEXICANA KLOTZSCH A Thesis by JOAN ELIZABETH NESTER Submitted to the Graduate College of Texas A&M University in partial fulfillment of the requirement for the degree of MASTER OF SCIENCE August 1979 Major... Subject: Botany GAMETOPHYTE DEVELOPMENT IN ANEMIA MEXICANA KLOTZSCH A Thesis by JOAN ELIZABETH NESTER Approved as sty e and content by: rl, udge(~u Chatrman of Committee ember e ber Head o Department August 1979 ABSTRACT Gametophyte Development...

Nester, Joan Elizabeth



Hepcidin in anemia of chronic heart failure  

PubMed Central

Anemia is a common finding among patients with chronic heart failure. Although co-morbidities, such as kidney failure, might contribute to the pathogenesis of anemia, many patients with heart failure do not have any other obvious etiology for their anemia. We investigated whether anemia in heart failure is associated with an elevation in hepcidin concentration. We used time-of-flight mass spectrometry to measure hepcidin concentration in urine and serum samples of patients with heart failure and in control subjects. We found that the concentration of hepcidin was lower in urine samples of patients with heart failure compared to those of control subjects. Serum hepcidin was also reduced in heart failure but was not significantly lower than that in controls. There were no significant differences between hepcidin levels in patients with heart failure and anemia compared to patients with heart failure and normal hemoglobin. We concluded that hepcidin probably does not play a major role in pathogenesis of anemia in patients with chronic heart failure. PMID:21080339

Divakaran, Vijay; Mehta, Sachin; Yao, David; Hassan, Saamir; Simpson, Steven; Wiegerinck, Erwin; Swinkels, Dorine W.; Mann, Douglas L.; Afshar-Kharghan, Vahid



Advancements in anemias related to chronic conditions.  


Anemia of chronic disease (ACD), the most frequent anemia among hospitalized patients, occurs in chronic inflammatory disorders, such as chronic infections, cancer and autoimmune diseases. Different causes contribute to ACD including diversion of iron traffic, diminished erythropoiesis, blunted response to erythropoietin, erythrophagocytosis, hematologic malignancies and solid tumors. A particular case of ACD is represented by anemia of chronic kidney disease (CKD). ACD is characterized by hyposideremia and altered iron transport. Cytokines are implicated in the ACD by reducing erythropoiesis and increasing iron sequestration in the reticuloendothelial system. The regulation of iron absorption across the epithelium of the proximal small intestine is essential for maintaining body iron concentrations within a physiologically defined range. Hepcidin controls cellular iron efflux by binding to the iron export protein ferroportin, causing ferroportin to be phosphorylated and degraded in lysosomes. Finally, hepcidin inhibits iron release from the reticulo-endothelial system. Increased expression of hepcidin leads to decreased iron absorption and iron deficient anemia. Hepcidin, therefore, is a negative regulator of iron transport in plasma. Causes of anemia in patients with CKD are multifactorial, but the most well-known cause is inadequate erythropoietin production. In these patients, anemia increases the risk of either cardiovascular disease or renal failure. PMID:20618092

Guidi, Gian Cesare; Lechi Santonastaso, Clara



Family structure and child anemia in Mexico.  


Utilizing longitudinal data from the nationally-representative Mexico Family Life Survey, this study assesses the association between family structure and iron-deficient anemia among children ages 3-12 in Mexico. The longitudinal models (n = 4649), which control for baseline anemia status and allow for consideration of family structure transitions, suggest that children living in stable-cohabiting and single-mother families and those who have recently experienced a parental union dissolution have higher odds of anemia than those in stable-married, father-present family structures. Interaction effects indicate that unmarried family contexts have stronger associations with anemia in older children (over age five); and, that the negative effects of parental union dissolution are exacerbated in poorer households. Resident maternal grandparents have a significant beneficial effect on child anemia independent of parental family structure. These results highlight the importance of family structure for child micronutrient deficiencies and suggest that understanding social processes within households may be critical to preventing child anemia in Mexico. PMID:23294876

Schmeer, Kammi K



Fanconi Anemia Proteins and Endogenous Stresses  

PubMed Central

Each of the thirteen identified Fanconi anemia (FA) genes is required for resistance to DNA interstrand crosslinking agents, such as mitomycin C, cisplatin, and melphalan. While these agents are an excellent tool for understanding the function of FA proteins in DNA repair, it is uncertain whether a defect in the removal of DNA interstrand crosslinks (ICLs) is the basis for the pathophysiology of FA. For example, DNA interstrand crosslinking agents induce other types of DNA damage, in addition to ICLs. Further, other DNA damaging agents, such as ionizing or ultraviolet radiation, activate the FA pathway, leading to monoubiquitination of FANCD2 and FANCI. Also, FA patients display congenital abnormalities, hematologic deficiencies, and a predisposition to cancer in the absence of an environmental source of ICLs that is external to cells. Here we consider potential sources of endogenous DNA damage, or endogenous stresses, to which FA proteins may respond. These include ICLs formed by products of lipid peroxidation, and other forms of oxidative DNA damage. FA proteins may also potentially respond to telomere shortening or replication stress. Defining these endogenous sources of DNA damage or stresses is critical for understanding the pathogenesis of deficiencies for FA proteins. We propose that FA proteins are centrally involved in the response to replication stress, including replication stress arising from oxidative DNA damage. PMID:19774700

Pang, Qishen; Andreassen, Paul R.



Normal erythropoiesis but severe polyposis and bleeding anemia in Smad4-deficient mice.  


The tumor suppressor Smad4 mediates signaling by the transforming growth factor beta (TGF-beta) superfamily of ligands. Previous studies showed that several TGF-beta family members exert important functions in hematopoiesis. Here, we studied the role of Smad4 in adult murine hematopoiesis using the inducible Mx-Cre/loxP system. Mice with homozygous Smad4 deletion (Smad4(Delta/Delta)) developed severe anemia 6 to 8 weeks after induction (mean hemoglobin level 70 g/L). The anemia was not transplantable, as wild-type mice reconstituted with Smad4(Delta/Delta) bone marrow cells had normal peripheral blood counts. These mice did not develop an inflammatory disease typical for mice deficient in TGF-beta receptors I and II, suggesting that the suppression of inflammation by TGF-beta is Smad4 independent. The same results were obtained when Smad4 alleles were deleted selectively in hematopoietic cells using the VavCre transgenic mice. In contrast, lethally irradiated Smad4(Delta/Delta) mice that received wild-type bone marrow cells developed anemia similar to Smad4(Delta/Delta) mice that did not receive a transplant. Liver iron stores were decreased and blood was present in stool, indicating that the anemia was due to blood loss. Multiple polyps in stomach and colon represent a likely source of the bleeding. We conclude that Smad4 is not required for adult erythropoiesis and that anemia is solely the consequence of blood loss. PMID:17638848

Pan, Dejing; Schomber, Tibor; Kalberer, Christian P; Terracciano, Luigi M; Hafen, Katrin; Krenger, Werner; Hao-Shen, Hui; Deng, Chuxia; Skoda, Radek C



Anemia after renal transplantation: an underestimated problem.  


In end-stage renal disease patients anemia is known to be an independent risk factor for cardiovascular disease and death. In a monocenter retrospective analysis, we investigated 207 stable patients (68 women/139 men) who underwent a first renal transplantation. Immunosuppressive therapy was performed with either cyclosporine plus mycophenolate mofetil, tacrolimus plus mycophenolate mofetil, or rapamycin plus mycophenolate mofetil; 43.5% of the patients were treated with steroids. Seventy-eight patients (37.7%) displayed anemia, including 8.7% with a severe disorder displaying an average hemoglobin (Hb) level of <6.8 mmo/L in men and <6.2 mmol/L in women. In 8.2% of the cases, we observed moderate anemia (Hb 6.8-7.4 mmol/L in men and 6.2-6.8 mmol/L in women), and in 20.8% (29 men and 14 women), mild anemia (Hb <8.06 mmol/L in men and <7.45 mmol/L in women). Erythropoietin was administered in 55.5% of patients with severe anemia, 53% with moderate anemia, and 11.6% with mild anemia. Serum creatinine level was a significant predictor of anemia (B -0.004; SE 0.001; P < .01). Among patients with creatinine >200 micromol/L, 63% were anemic compared with 22% of those with a serum creatinine level <200 micromol/L (P < .05). No correlation was observed with immunosuppressive medication or treatment with angiotensin-converting enzyme inhibitors/angiotensin-II receptor antagonists. During a 3-year follow-up, both mortality and graft failure rates were significantly greater among anemic patients nonanemic patients (mortality 3.3% vs 0.5%, P < .001; graft failure 4.3% vs 0%, P < .001). We found an unexpectedly high incidence of anemia in patients with well-functioning grafts. Anemia as a risk factor for mortality and graft failure should be treated more intensively among renal transplant patients. PMID:19100418

Ott, U; Busch, M; Steiner, T; Wolf, G



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

PubMed Central

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

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



Hemolytic anemias and erythrocyte enzymopathies.  


The human erythrocyte generates high-energy adenosine triphosphate by anaerobic glycolysis and cycles oxidized and reduced nicotinamide adenine dinucleotide phosphate by the aerobic pentose phosphate shunt pathway. Certain enzymopathies of the pentose phosphate shunt are associated with hemolysis resulting from oxidative denaturation of hemoglobin. Glucose-6-phosphate dehydrogenase deficiency, an X-chromosome-linked disorder, is the prototype of these diseases and is genetically and clinically polymorphic. Six enzymopathies of anaerobic glycolysis cause hemolytic anemia; lactate dehydrogenase deficiency does not. In 2,3-diphosphoglycerate mutase deficiency, 2,3-diphosphoglycerate is greatly reduced and asymptomatic polycythemia is noted. Pyrimidine-5'-nucleotidase deficiency, an enzymopathy of nucleotide metabolism, is characterized by intracellular accumulations of pyrimidine-containing nucleotides, marked basophilic stippling on the stained blood film, splenomegaly, and hemolysis. Lead inhibits the nucleotidase and an identical syndrome occurs during severe lead poisoning. Hemolysis also accompanies an unusual enzymopathy characterized by a 40- to 70-fold increase (not decrease) in adenosine deaminase activity. PMID:2990276

Valentine, W N; Tanaka, K R; Paglia, D E



Evolution of the Equine Infectious Anemia Virus Long Terminal Repeat during the Alteration of Cell Tropism  

Microsoft Academic Search

Equine infectious anemia virus (EIAV) is a lentivirus with in vivo cell tropism primarily for tissue macro- phages; however, in vitro the virus can be adapted to fibroblasts and other cell types. Tropism adaptation is associated with both envelope and long terminal repeat (LTR) changes, and findings strongly suggest that these regions of the genome influence cell tropism and virulence.

Wendy Maury; Robert J. Thompson; Quentin Jones; Sarahann Bradley; Tara Denke; Prasith Baccam; Matthew Smazik; J. Lindsay Oaks



Aplastic anemia and pure red cell aplasia associated with large granular lymphocyte leukemia  

Microsoft Academic Search

Aplastic anemia (AA) and pure red cell aplasia (PRCA) are two of the various types of immune-mediated cytopenias that can be associated with large granular lymphocyte (LGL) leukemia. We review the experience on LGL leukemia-associated AA and PRCA in the published literature. In the setting of LGL leukemia, AA is found rarely, while PRCA is frequent. However, the diagnosis of

Ronald S Go; John A Lust; Robert L Phyliky



What Are the Signs and Symptoms of Aplastic Anemia?  


... What Are the Signs and Symptoms of Aplastic Anemia? Lower than normal numbers of red blood cells, ... most of the signs and symptoms of aplastic anemia. Signs and Symptoms of Low Blood Cell Counts ...


For Parents of Children with Diamond Blackfan Anemia  


... Disorders For Parents of Children with Diamond Blackfan Anemia Parenting Corner Q&A When your child is ... Starlight Children’s Foundation Diamond Blackfan Anemia Foundation (DBAF) DBA Nurse ...


Hematologic characterization and chromosomal localization of the novel dominantly inherited mouse hemolytic anemia, neonatal anemia (Nan).  


One of the most commonly inherited anemias in man is Hereditary Spherocytosis (HS) with an incidence of 1 in 2000 for persons of Northern European descent. Mouse models of HS include spontaneous inherited hemolytic anemias and those generated by gene targeting. The Neonatal anemia (Nan) mouse is a novel model of HS generated by N-ethyl-N-nitrosurea mutagenesis and suffers from a severe neonatal anemia. Adult Nan mice have a lifelong hemolytic anemia with decreased red blood cell numbers, hematocrit, and hemoglobin, but elevated zinc protoporphyrin levels. Blood smears taken from Nan mice show a hypochromic anemia characterized by poikilocytosis, anisocytosis and polychromasia. The Nan phenotype can be transferred by bone marrow transplantation indicating that the defect is intrinsic to bone marrow. The hemolytic anemia in adult Nan mice can be identified by osmotic fragility testing. Examination of the erythrocyte membrane skeleton proteins (EMS) reveals a global deficiency of these proteins with protein 4.1a being completely absent. The Nan locus maps to mouse Chromosome 8 and does not co-localize with any known EMS genes. The identification of the Nan gene will likely uncover a novel protein that contributes to the stability of the EMS and may identify a new mutation for HS. PMID:19409822

White, Robert A; Sokolovsky, Inna V; Britt, Margaret I; Nsumu, Ndona N; Logsdon, Derek P; McNulty, Steven G; Wilmes, Leigh A; Brewer, Brandon P; Wirtz, Eric; Joyce, Heather R; Fegley, Barbara; Smith, Ann; Heruth, Daniel P



Aplastic anemia in a petrochemical factory worker.  

PubMed Central

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

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



Hemophagocytosis causes a consumptive anemia of inflammation  

PubMed Central

Cytopenias of uncertain etiology are commonly observed in patients during severe inflammation. Hemophagocytosis, the histological appearance of blood-eating macrophages, is seen in the disorder hemophagocytic lymphohistiocytosis and other inflammatory contexts. Although it is hypothesized that these phenomena are linked, the mechanisms facilitating acute inflammation-associated cytopenias are unknown. We report that interferon ? (IFN-?) is a critical driver of the acute anemia observed during diverse microbial infections in mice. Furthermore, systemic exposure to physiologically relevant levels of IFN-? is sufficient to cause acute cytopenias and hemophagocytosis. Demonstrating the significance of hemophagocytosis, we found that IFN-? acts directly on macrophages in vivo to alter endocytosis and provoke blood cell uptake, leading to severe anemia. These findings define a unique pathological process of broad clinical and immunological significance, which we term the consumptive anemia of inflammation. PMID:21624938

Zoller, Erin E.; Lykens, Jennifer E.; Terrell, Catherine E.; Aliberti, Julio; Filipovich, Alexandra H.; Henson, Peter M.



High Prevalence but Insufficient Treatment of Iron-Deficiency Anemia in Patients with Inflammatory Bowel Disease: Results of a Population-Based Cohort  

PubMed Central

Background. Iron-deficiency anemia is described to be a common problem in patients with inflammatory bowel disease (IBD), which is frequently associated with a reduced quality of life. Therefore, the aim of this study is to assess the prevalence of iron deficiency anemia in a population-based cohort at time of first diagnosis and during the early course of the disease. Methods. As far as available, lab values of patients registered in the population-based “Oberpfalz cohort” were screened. In anemic patients, we further investigated all laboratory results to differentiate between iron deficiency and other reasons for anemia. All patients with any kind of anemia were interviewed separately according to symptoms of iron-deficiency anemia and administration of iron. Results. In total, we evaluated hemoglobin values of 279 patients (183 Crohn's disease, 90 ulcerative colitis, and 6 indeterminate colitis). Lab data which allowed further differentiation of the type of anemia were available in 70% of anemic patients, in 34.4% values of iron, ferritin and transferrin saturation had been measured. At time of first diagnosis, an iron-deficiency anemia was diagnosed in 26 of 68 patients with anemia (38.2%, 20 CD, 4 UC, and 2 IC patients), but only 9 patients (34.6%) received subsequent iron therapy. After one year, 27 patients were identified to have an iron-deficiency anemia (19 CD, 8 UC), 20 of them were treated with iron (71.4%). Of 9 patients with proven iron-deficiency anemia at time of first diagnosis and subsequent administration of iron, 5 (55.5%) had iron-deficiency anemia despite permanent treatment after one year. In total, 38 patients (54.3%) did not receive any iron substitution at all despite of proven iron-deficiency anemia, and only 13 patients of 74 patients were treated with intravenous iron (17.6%). Conclusion. We found a high prevalence of iron-deficiency anemia at different points during the early course of disease in this population-based cohort of IBD patients. Surprisingly, only in one-third of patients with proven anemia, further diagnostic approach was undertaken. Even patients with diagnosed iron-deficiency anemia were infrequently and inconsequently treated with iron preparations, despite the high impact on quality of life. PMID:22899905

Ott, Claudia; Liebold, Anne; Takses, Angela; Strauch, Ulrike G.; Obermeier, Florian



[Iron-deficiency anemia and gastrointestinal bleeding].  


The physiology of iron homeostasis, clinical presentation, diagnosis, differential diagnosis and therapeutic options in iron-deficiency anemia are discussed. Iron deficiency is the most common haematological disorder encountered in general practice and iron-deficiency anemia is the most frequently occurring anemia throughout the world. Blood loss is a major cause of iron-deficiency anemia. Gastrointestinal bleeding is the most common cause of iron deficiency in adult men and is second only to menstrual blood loss as a cause in women. Iron-deficiency anemia is not a disease itself but a manifestation of an underlying disease, searching for the latter is therefore crucial and may be of far greater importance to the ultimate well-being of the patient than repleting iron stores. The symptoms and signs of iron deficiency are partially explained by the presence of anemia. However, there also appears to be a direct effect of iron deficiency on the central nervous system. The most important screening investigations for iron deficiency in clinical practice are the haemoglobin, the haematocrit and the mean corpuscular volume (MCV). The single most important measure of iron status is the serum ferritin, values below the lower limit of normal being specific for iron deficiency. In inflammation, hepatopathy and haemolysis serum ferritin is also released leading to falsely elevated values, therefore an analysis of the C-reactive protein (CRP) should always accompany the analysis of serum ferritin. Repleting iron stores is usually done with oral iron therapy, the available preparations are comparable with respect to efficacy, side effects and costs. The main indications for parenteral iron therapy are intolerance to oral iron, intestinal malabsorption and poor compliance to an oral regimen. The iron sucrose preparation should bepreferentially used for that purpose, the total dose is calculated from the amount of iron needed to restore the haemoglobin deficit plus an additional amount to replenish iron stores. PMID:16739893

Rüfer, A; Criblez, D; Wuillemin, W A



Risk factors associated with anemia, iron deficiency and iron deficiency anemia in rural Nepali pregnant women.  


We conducted a cross sectional study to investigate risk factors associated with severe anemia [hemoglobin (Hb) < 8.0 g dl(-1)] and poor iron status among Nepali pregnant women. Socio-demographic, anthropometric, health and dietary data were collected from 3,531 women living in the southeastern plains of Nepal. Stool samples were analyzed for intestinal helminthes. Dark adaptation was assessed using the Night Vision Threshold Test (NVTT). Hb levels were measured in all subjects to detect anemia and the soluble transferrin receptor (sTfR) was measured among a subsample of 479 women. The iron status categories were: 1) normal (Hb> or = 11.0 g/dl and sTfR < or = 8.5 mg/l); 2) anemia without iron deficiency (Hb<11.0 g/dl and sTfR < or = 8.5 mg/l); 3) iron deficiency without anemia (Hb > or = 11.0 g/dl and sTfR>8.5 mg/l); and 4) iron deficiency anemia (IDA): (Hb<11.0 g/dl and sTfR>8.5 mg/l). Factors associated with severe anemia and poor iron status were determined using logistic regression. Hookworm infection increased the risk for developing severe anemia [adjusted odds ratio (AOR): 4.26; 95% CI 1.67-10.89; p<0.01] and IDA [relative risk ratio (RRR): 2.18; 95% CI 1.14-4.16; p<0.05]. Impaired dark adaptation was a common risk factor for iron deficiency with and without anemia. Intake of iron supplements as tablets and/or tonic was protective against severe anemia, anemia without iron deficiency and IDA. Dietary heme iron was significantly associated with iron deficiency without anemia (RRR: 0.1; 95% CI 0.02-0.47; p<0.01). These results indicate the risk factors varied by classification and multiple approaches are needed to reduce anemia and associated nutrient deficiencies. PMID:23077854

Makhoul, Zeina; Taren, Douglas; Duncan, Burris; Pandey, Pooja; Thomson, Cynthia; Winzerling, Joy; Muramoto, Myra; Shrestha, Ram



The burden of anemia among women in India  

Microsoft Academic Search

Objective: This research investigates the prevalence and determinants of anemia among women in Andhra Pradesh. We examined differences in anemia related to social class, urban\\/rural location and nutrition status body mass index (BMI). We hypothesized that rural women would have higher prevalence of anemia compared to urban women, particularly among the lower income groups, and that women with low body

M E Bentley; P L Griffiths



Macrocytic Anemia and Thrombocytopenia Induced by Orlistat  

PubMed Central

Introduction: The overall incidence of obesity and its prevalence is increasing continuously. The obesity is a cardiovascular risk factor whose importance is increasing too. It is associated with many chronic conditions such as type II diabetes mellitus or cardiovascular diseases. The obesity is also implicated as a risk factor for several kinds of cancer such as esophagus, pancreas, colon, rectum, breast cancer in menopausal women. The treatment of the obesity may reduce the incidence of these diseases. The mainstray of the treatment of obesity is changing the lifestyles, but obesity´s treatment may need drug therapy or even though surgical treatment. Orlistat is a specific inhibitor of gastrointestinal lipases, which stops fat absortion. It is used along with a hypocaloric diet, for obesity´s treatment. The beneficial effects of orlistat include weight loss, the improvement of blood pressure´s control, it may delay the development of diabetes mellitus, and it may reduce HbA1c. Case Report: Besides the interaction with other drugs (mainly warfarin and amiodarone). Orlistat´s mainly side effects are gastrointestinal disorders such as the existence of oily spotting from the rectum, abdominal pain or discomfort, fecal urgency. There are also side effects at other levels, like flu symptoms, hypoglycemia, heathache or upper respiratory infections. There are other side effects with very low incidence but clinically relevant like pancreatitis, subacute liver failure, severe liver disease, myopathy, or tubular necrosis secondary to oxalate nephropathy induced by Orlistat. Discussion: In this case report appears a new adverse effect of Orlistat that has not been described above: thrombopenia and macrocytic anemia. PMID:24719628

Palacios-Martinez, David; Garcia-Alvarez, Juan Carlos; Montero-Santamaria, Nieves; Villar-Ruiz, Olga Patricia; Ruiz-Garcia, Antonio; Diaz-Alonso, Raquel Asuncion



The pathogenesis of the anemia of anaplasmosis  

E-print Network

. Even though it ~e e t ~ a tmmCXca ot ecyCaxem ~ ~ yaw ~ ewaW ea deva~ of the anemia of natural and experimental anaIQawsssis, bemo- globineada end ~binmria usua11g do not occur. Several plasma yroteins designated ~chins have been shown to g have... to the narrows of the con- /f trol cattle. Studies of ~scion smears made from the marrow specimens of the 15 infeote4 cattle when c~ to the 5 non-infected control cat- l tie supported the above findings. / / It is obvious Chat the mechanism of the anemia...

Foote, Lon E



[An uncommon etiology of anemia: copper deficiency].  


A 58-year-old patient, without any notable medical history, except for alcoholism and treated hypertension, developed anemia and leukopenia with macrocytosis. Folate deficiency was diagnosed and subsequently treated. Despite folate supplementation, the hematological parameters did not normalize. Further diagnosis investigations were led to search for uncommon etiologies of anemia and leukoneutropenia. We diagnosed severe copper deficiency on the basis of decreased plasma levels of copper and ceruloplasmin. Copper supplementation improved blood counts within three months. This case illustrates hematological disorders due to copper deficiency, initially masked by an associated folate deficiency. The copper deficiency etiology was not identified in this case. PMID:23906580

Kouamou, Edwige; Stépanian, Alain; Khadra, Fadi; de Prost, Dominique; Teillet, France



Post-liver-transplant anemia: etiology and management.  


Anemia is common after liver transplantation, with the incidence ranging from 4.3% to 28.2% depending on the criteria used to define anemia. The cause of anemia is unidentified in the majority of patients, and it is likely to be multifactorial. Immunosuppressive-medication-induced bone marrow suppression is perhaps the most common cause of unexplained anemia. Chronic blood loss, iron deficiency, hemolysis, and renal insufficiency are other potential causes of chronic anemia. Rare causes, somewhat unique to transplantation, include aplastic anemia, graft-versus-host disease (GVHD), and lymphoproliferative disease. Anemia due to immunosuppressive medication is challenging, since almost all drugs currently used for this purpose cause anemia, but the renal-sparing property of sirolimus may benefit the subgroup in which renal insufficiency is contributing to anemia. Aplastic anemia is seen in young patients transplanted for non-A, non-B, non-C, fulminant hepatic failure. It is thought to be immunologically mediated, secondary to an unknown viral infection, and is associated with a grave prognosis. GVHD is another infrequent (approximately 1% of transplant recipients) but serious cause of severe anemia that carries a dismal prognosis. Lymphoproliferative disorder, too may rarely rare cause anemia and it may respond to reduction of immunosuppression. Recipients of solid-organ transplants do not mount a significant increase in erythropoietin in response to anemia. In conclusion, though there are no data on the response of anemia to erythropoietin in liver transplant recipients, it appears to benefit other solid-organ-transplant recipients with anemia. PMID:14762852

Maheshwari, Anurag; Mishra, Rajnish; Thuluvath, Paul J



Equine infectious anemia and equine infectious anemia virus in 2013: a review.  


A detailed description of equine infectious anemia virus and host responses to it are presented. Current control and eradication of the infection are discussed with suggestions for improvements to increase their effectiveness. PMID:24183747

Cook, R F; Leroux, C; Issel, C J



Iron-deficiency anemia in Castleman disease: implication of the interleukin 6/hepcidin pathway.  


In addition to occasional autoimmune hemolytic anemia, unexplained iron-deficiency anemia has been reported in childhood Castleman disease (CD). The recent discovery of hepcidin has regenerated the research on iron metabolism. This hormone is a key regulator of iron homeostasis, mainly by inhibiting intestinal iron absorption. Liver expression of hepcidin increases in response to interleukin 6 (IL-6). With chronic overproduction of IL-6 as a hallmark, CD could be an interesting human model for studying the contribution of the IL-6/hepcidin pathway in the pathogenesis of anemia of chronic disease. We report here the case of a 16-year-old boy with chronic iron-deficiency anemia (plasma ferritin: 19 ?g/L; plasma iron: 2.2 ?mol/L; negative bone marrow Perls' Prussian blue stain), inflammatory syndrome (C-reactive protein: 108 mg/L), and growth retardation for the previous 2 years. Diagnostic workup revealed a large mesenteric mass corresponding to localized CD of mixed histologic type. Resection of the tumor resulted in complete resolution of iron-deficiency anemia and inflammatory syndrome. Parallel variations of plasma IL-6, C-reactive protein, and hepcidin concentrations, together with tumor immunohistochemistry, strongly suggested that IL-6 synthesized by the tumor caused both the inflammation and iron deficiency through enhancement of hepcidin production by the liver. The results of this unique case study (1) explain the mechanism of iron deficiency observed in some children with CD, (2) confirm in vivo the regulatory effect of IL-6 in human hepcidin production, and (3) suggest that iron deficiency is a causal link between IL-6 and anemia of chronic disease. PMID:21041280

Arlet, Jean-Benoît; Hermine, Olivier; Darnige, Luc; Ostland, Vaughn; Westerman, Mark; Badoual, Cécile; Pouchot, Jacques; Capron, Loïc




E-print Network

Total Iron Concentration 40-50 mg Hemoglobin = 0.5 mg iron/ml blood Transferrin = Transport Protein;9/16/2013 4 IRON DEFICIENCY ANEMIA CAUSES Dietary Deficiency Blood Loss Hemodialysis Malabsorption IDA infections, chronic inflammatory disorders, or neoplastic disorders Cytokines are mediators Inhibit EPO


A short review of malabsorption and anemia.  


Anemia is a frequent finding in most diseases which cause malabsorption. The most frequent etiology is the combination of iron and vitamin B12 deficiency. Celiac disease is frequently diagnosed in patients referred for evaluation of iron deficiency anemia (IDA), being reported in 1.8%-14.6% of patients. Therefore, duodenal biopsies should be taken during endoscopy if no obvious cause of iron deficiency (ID) can be found. Cobalamin deficiency occurs frequently among elderly patients, but it is often unrecognized because the clinical manifestations are subtle; it is caused primarily by food-cobalamin malabsorption and pernicious anemia. The classic treatment of cobalamin deficiency has been parenteral administration of the vitamin. Recent data suggest that alternative routes of cobalamin administration (oral and nasal) may be useful in some cases. Anemia is a frequent complication of gastrectomy, and has been often described after bariatric surgery. It has been shown that banding procedures which maintain digestive continuity with the antrum and duodenum are associated with low rates of ID. Helicobacter pylori (H. pylori) infection may be considered as a risk factor for IDA, mainly in groups with high demands for iron, such as some children and adolescents. Further controlled trials are needed before making solid recommendations about H. pylori eradication in these cases. PMID:19787827

Fernández-Bañares, Fernando; Monzón, Helena; Forné, Montserrat



Hb F in sickle cell anemia  

Microsoft Academic Search

We have reviewed the methodology for an accurate quantitation of Hb F in the blood of patients with sickle cell anemia, values observed in hundreds of patients of different (racial or ethnic) backgrounds and with differences in severity of the disease, and the various factors that affect the level of Hb F. The latter include sex, age, genetic background or

A. D. Adekile; T. H. J. Huisman



Anemia in patients with coronary artery disease.  


The pathophysiology of impaired hemodynamic and nonhemodynamic responses to anemia in patients with coronary artery disease is discussed. In animals, experimentally induced coronary artery disease significantly inhibits the hemodynamic response to surgical blood loss; anecdotal evidence in humans corroborates these findings. Erythropoietic response to surgical blood loss may also be blunted in patients with coronary artery disease. Regardless of whether anemia is the result of a preexisting condition or surgical blood loss, its presence worsens outcomes in patients with coronary artery disease who undergo cardiac surgery. The combination of coronary artery disease and anemia has resulted in acute myocardial infarction as well. Finally, anemia after noncardiac surgery is associated with an increased risk of myocardial ischemia, potentially creating a cycle in which blood loss and myocardial ischemia exacerbate each other. Oral iron replacement therapy after elective cardiac surgery increases adverse events without significantly improving hematocrit and hemoglobin levels or iron stores. Allogeneic blood transfusions are less than ideal, and autologous blood transfusion with erythropoietin administration is only possible before elective procedures. New procedures and medications have reduced the blood loss associated with percutaneous coronary intervention, and minimization of blood loss during percutaneous coronary intervention has potentially major clinical and economic implications. PMID:12908376

Nappi, Jean



The maternal side of Fanconi Anemia.  


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

Ruiz, Sergio; Fernandez-Capetillo, Oscar



Autoimmune gastritis presenting as iron deficiency anemia in childhood  

PubMed Central

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.

Goncalves, Cristina; Oliveira, Maria Emilia; Palha, Ana M; Ferrao, Anabela; Morais, Anabela; Lopes, Ana Isabel



Anemia after bariatric surgery: more than just iron deficiency.  


Bariatric surgery for morbid obesity is rapidly gaining popularity. Restrictive and/or malabsorptive surgical interventions result in dramatic weight loss with significantly decreased obesity-related morbidity and mortality. Anemia, which may affect as many as two-thirds of these patients, is of concern and generally thought to be caused by iron deficiency. Although iron deficiency in this population may be frequent given pouch hypoacidity, defunctionalized small bowel, and red meat intolerance, it may not account for all anemias seen. First, there is increasing evidence that obesity creates a state of chronic inflammation. Both iron deficiency anemia and anemia of chronic inflammation present with low serum iron levels. Most studies reporting anemia after bariatric surgery lack serum ferritin determinations so that the relative contribution of inflammation to anemia cannot be assessed. Second, a significant number of anemias after bariatric surgery remain unexplained and may be attributable to less frequently seen micronutrient deficiencies such as copper, fatsoluble vitamins A and E, or an imbalance in zinc intake. Third, although deficiencies of folate and vitamin B(12) are infrequent, study observation periods may be too short to detect anemia attributable to vitamin B(12) deficiency because vitamin B(12) storage depletion takes many years. This review is intended to increase awareness of the mechanisms of anemia above and beyond iron deficiency in the bariatric patient and provide healthcare providers with tools for a more thoughtful approach to anemia in this patient population. PMID:19321896

von Drygalski, Annette; Andris, Deborah A



Aplastic anemia: immunosuppressive therapy in 2010  

PubMed Central

Acquired aplastic anemia (AA) is the typical bone marrow failure syndrome characterized by an empty bone marrow; an immune-mediated pathophysiology has been demonstrated by experimental works as well as by clinical observations. Immunusuppressive therapy (IST) is a key treatment strategy for aplastic anemia; since 20 years the standard IST for AA patients has been anti-thymocyte globuline (ATG) plus cyclosporine A (CyA), which results in response rates ranging between 50% and 70%, and even higher overall survival. However, primary and secondary failures after IST remain frequent, and to date all attempts aiming to overcome this problem have been unfruitful. Here we review the state of the art of IST for AA in 2010, focusing on possible strategies to improve current treatments. We also discuss very recent data which question the equality of different ATG preparations, leading to a possible reconsideration of the current standards of care for AA patients. PMID:22053283

Risitano, Antonio M.; Perna, Fabiana



Anemia in heart failure: an overview of current concepts.  


Chronic heart failure is a substantial public health problem. Anemia is an important comorbidity frequently observed in patients with the disease and, in heart failure, anemia has only recently started to attract systematic epidemiological and therapeutical research endeavor. This article describes the many aspects of anemia in chronic heart failure, starting with the ongoing discussion of how to define anemia, which has important consequences for the estimation of its prevalence and incidence. Further, we discuss prognostic implications of anemia in patients with chronic or acute heart failure, the etiology of anemia in heart failure and treatment possibilities. Such therapeutic avenues embrace intravenous iron preparations and subcutaneous administration of erythropoietin and its derivatives, all of which have been extensively studied over the last several years. Finally, this article describes the potential costs incurred by treating anemic patients with heart failure. PMID:21174515

von Haehling, Stephan; Jankowska, Ewa A; Ponikowski, Piotr; Anker, Stefan D



[Aplastic anemia after acute viral hepatitis].  


The authors describe 4 patients with grave aplastic anemia that developed after acute virus hepatitis. In two cases aplasia occurred at the icteric period of hepatitis, in one during convalescence, and in one 5 months after the recovery from hepatitis. The counter electrophoresis technique failed to reveal the Australian antigen in all the 4 cases. Ninety per cent of patients out of over 200 reported cases of aplastic anemia that developed after acute virus hepatitis died. Of the 4 cases followed up by the authors, 3 patients died. One of the female patients was subjected to splenectomy 3 weeks after the occurrence of grave aplasia with fatty bone marrow with a purpose of immunodepression. Splenectomy entailed a considerable decrease in hemorrhagic diathesis. Later on the patient was treated with caprine antilymphocytic globulin. At present the patient is in a state of remission. The problems of the pathogenesis of aplastic anemia following acute virus hepatitis and potentialities of the disease treatment are under discussion. PMID:4049269

Idel'son, L I; Guse?nova, L A; Pogorel'skaia, E P; Aprosina, Z G; Novokreshchennykh, I I



Pharmacodynamic model for chemotherapy-induced anemia in rats  

Microsoft Academic Search

Anticancer agents often cause bone marrow toxicity resulting in progressive anemia which may influence the therapeutic effects\\u000a of erythropoietic-stimulating agents. The objective of this study was to develop a pharmacodynamic (PD) model to describe\\u000a chemotherapy-induced anemia in rats. Anemia was induced in male Wistar rats with a single intravenous (i.v.) injection of\\u000a 60 mg\\/kg carboplatin. Hematological responses including reticulocytes, red blood

Sukyung Woo; Wojciech Krzyzanski; William J. Jusko



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

Code of Federal Regulations, 2010 CFR

...Preparations for the treatment of pernicious anemia. 250.201 Section 250.201 Food...Preparations for the treatment of pernicious anemia. (a) The ninth announcement of the Anti-anemia Preparations Advisory Board of the...



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


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

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



Equine Infectious Anemia Virus Entry Occurs through Clathrin-Mediated Endocytosis  

Microsoft Academic Search

Entry of wild-type lentivirus equine infectious anemia virus (EIAV) into cells requires a low-pH step. This low-pH constraint implicates endocytosis in EIAV entry. To identify the endocytic pathway involved in EIAV entry, we examined the entry requirements for EIAV into two different cells: equine dermal (ED) cells and primary equine endothelial cells. We investigated the entry mechanism of several strains

Melinda A. Brindley; Wendy Maury



Iron, anemia and hepcidin in malaria  

PubMed Central

Malaria and iron have a complex but important relationship. Plasmodium proliferation requires iron, both during the clinically silent liver stage of growth and in the disease-associated phase of erythrocyte infection. Precisely how the protozoan acquires its iron from its mammalian host remains unclear, but iron chelators can inhibit pathogen growth in vitro and in animal models. In humans, iron deficiency appears to protect against severe malaria, while iron supplementation increases risks of infection and disease. Malaria itself causes profound disturbances in physiological iron distribution and utilization, through mechanisms that include hemolysis, release of heme, dyserythropoiesis, anemia, deposition of iron in macrophages, and inhibition of dietary iron absorption. These effects have significant consequences. Malarial anemia is a major global health problem, especially in children, that remains incompletely understood and is not straightforward to treat. Furthermore, the changes in iron metabolism during a malaria infection may modulate susceptibility to co-infections. The release of heme and accumulation of iron in granulocytes may explain increased vulnerability to non-typhoidal Salmonella during malaria. The redistribution of iron away from hepatocytes and into macrophages may confer host resistance to superinfection, whereby blood-stage parasitemia prevents the development of a second liver-stage Plasmodium infection in the same organism. Key to understanding the pathophysiology of iron metabolism in malaria is the activity of the iron regulatory hormone hepcidin. Hepcidin is upregulated during blood-stage parasitemia and likely mediates much of the iron redistribution that accompanies disease. Understanding the regulation and role of hepcidin may offer new opportunities to combat malaria and formulate better approaches to treat anemia in the developing world. PMID:24910614

Spottiswoode, Natasha; Duffy, Patrick E.; Drakesmith, Hal



Acute psychosis: a presentation of cyanocobalamin deficiency megaloblastic anemia.  


Cyanocobalamin deficiency is not rare in India. Patients present with megaloblastic anemia, pancytopenia and sometimes neuropsychiatric manifestations. Subacute combined degeneration of the cord, peripheral neuropathy, dementia, psychotic depression and paranoid schizophrenia are well reported. We are reporting a case of cyanocobalamine deficiency anemia who presented with acute psychosis which readily reversed on cyanocobalamin replacement. PMID:21886392

Tripathi, A K; Verma, S P; Himanshu, D



Screening for Anemia in Children: AAP Recommendations—A Critique  

Microsoft Academic Search

The American Academy of Pediatrics (AAP) recommends screening for anemia between the ages of 9 to 12 months with additional screening between the ages of 1 and 5 years for patients at risk. The screen- ing may be universal or selective depending on the prev- alence of iron deficiency anemia in the population. Im- proved infant rearing practices—including wider availability,

Mudra Kohli-Kumar



Microradiographic Study of Odontologic Tissues in Cooley's Anemia  

Microsoft Academic Search

SYNOPSIS IN INTERLINGUA STUDIO MICRORADIOGRAPHIC DE Tissu ODONTOLOGIC IN ANEMIA DE COOLEY.—Le presente studio esseva effectuate pro determinar le effectos de anemia de Cooley super le configuration del mineralisation e le morphologia del dentes e de lor structuras de supporto. Sectiones mollite esseva obtenite ab specimens includitein bioplastico. Examines microradiographic revelava que le dentina esseva mal mineralisate e que inusual

Narendar N. Soni; Frank E. Barbee; Angella D. Ferguson; Barbara A. Parrish



Spontaneous Resolution of Severe Aplastic Anemia following Thymic Hemorrhage  

Microsoft Academic Search

Over the last 7 years we have seen more than 200 severe aplastic anemia patients at this centre. Three of them developed an unusual complication in the form of thymic hemorrhage. Following this complication, all 3 patients recovered partially from their aplastic anemia, without any need for further immunosuppression. These cases show possible ways to manipulate the thymus gland as

Kanjaksha Ghosh; Manisha Madkaikar; Farah Jijina



Etiology of Strokes in Children with Sickle Cell Anemia  

ERIC Educational Resources Information Center

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.…

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



Spectrum of anemia associated with chronic liver disease  

PubMed Central

Anemia of diverse etiology is a common complication of chronic liver diseases. The causes of anemia include acute or chronic gastrointestinal hemorrhage, and hypersplenism secondary to portal hypertension. Severe hepatocellular disease predisposes to hemorrhage because of impaired blood coagulation caused by deficiency of blood coagulation factors synthesized by hepatocytes, and/or thrombocytopenia. Aplastic anemia, which is characterized by pancytopenia and hypocellular bone marrow, may follow the development of hepatitis. Its presentation includes progressive anemia and hemorrhagic manifestations. Hematological complications of combination therapy for chronic viral hepatitis include clinically significant anemia, secondary to treatment with ribavirin and/or interferon. Ribavirin-induced hemolysis can be reversed by reducing the dose of the drug or discontinuing it altogether. Interferons may contribute to anemia by inducing bone marrow suppression. Alcohol ingestion is implicated in the pathogenesis of chronic liver disease and may contribute to associated anemia. In patients with chronic liver disease, anemia may be exacerbated by deficiency of folic acid and/or vitamin B12 that can occur secondary to inadequate dietary intake or malabsorption. PMID:19787828

Gonzalez-Casas, Rosario; Jones, E Anthony; Moreno-Otero, Ricardo



Aplastic Anemia in Adolescents and Young Adults  

PubMed Central

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

DeZern, Amy E.; Guinan, Eva C.



Diagnosis and management of iron deficiency anemia.  


Iron deficiency anemia (IDA) is a common hematologic condition, affecting a substantial proportion of the world's women and young children. Optimal management of IDA requires an accurate diagnosis, identification and correction of the underlying cause, provision of medicinal iron therapy, and confirmation of treatment success. There are limited data to support current treatment approaches regarding oral iron preparation, dosing, monitoring, and duration of therapy. New intravenous iron agents have improved safety profiles, which may foster their increased utilization in the treatment of patients with IDA. Clinical trials focused on improving current treatment standards for IDA are sorely needed. PMID:25064710

Powers, Jacquelyn M; Buchanan, George R



Selection of peptides for serological detection of equine infectious anemia.  


Equine infectious anemia caused by equine infectious anemia virus is an important disease due to its high severity and incidence in animals. We used a phage display library to isolate peptides that can be considered potential markers for equine infectious anemia diagnosis. We selected peptides using IgG purified from a pool comprised of 20 sera from animals naturally infected with equine infectious anemia virus. The diagnostic potential of these peptides was investigated by ELISA, Western blot and dot blot with purified IgG and serum samples. Based on the results, we chose a peptide mimetic for glycoprotein gp45 epitopes of equine infectious anemia virus, with potential for use as an antigen in indirect diagnostic assays. Synthesis of this peptide has possible applications for the development of new diagnostic tools for this disease. PMID:22653674

Santos, E M; Cardoso, R; Souza, G R L; Goulart, L R; Heinemann, M B; Leite, R C; Reis, J K P



Prevalence of 25-hydroxyvitamin D deficiency in subgroups of elderly persons with anemia: association with anemia of inflammation.  


Anemia and vitamin D deficiency are conditions that both result in significant morbidity and increase with age. The potential relationship between them remains poorly understood, particularly in the elderly. We used the Third National Health and Nutrition Examination Survey to examine the association of vitamin D deficiency with anemia subtypes in persons aged ? 60 years. Vitamin D deficiency was defined as serum levels < 20 ng/mL, and anemia was defined according to World Health Organization criteria. Vitamin D deficiency was associated with anemia prevalence independent of age, sex, or race/ethnicity (odds ratio, 1.47; 95% confidence interval, 1.06-2.05; P = .02) and varied significantly by anemia subtype (P overall = .003). The prevalence of vitamin D deficiency was 33.3% in the nonanemic population, 56% in anemia of inflammation (AI; P = .008), and 33.0% in unexplained anemia (P = .55). Non-Hispanic blacks had a 7-fold increased risk of AI compared with whites, and this was partially attenuated after adjusting for vitamin D deficiency. These data show that vitamin D deficiency is associated with specific subtypes of anemia in the elderly, especially in those with AI. Vitamin D may suppress inflammatory pathways, and studies to determine whether vitamin D supplementation ameliorates AI are warranted. PMID:21239700

Perlstein, Todd S; Pande, Reena; Berliner, Nancy; Vanasse, Gary J



The Fanconi Anemia Pathway in Replication Stress and DNA Crosslink Repair  

PubMed Central

Interstand crosslinks (ICLs) are DNA lesions where the bases of opposing DNA strands are covalently linked, inhibiting critical cellular processes such as transcription and replication. Chemical agents that generate ICLs cause chromosomal abnormalities including breaks, deletions and rearrangements, making them highly genotoxic compounds. This toxicity has proven useful for chemotherapeutic treatment against a wide variety of cancer types. The majority of our understanding of ICL repair in humans has been uncovered thorough analysis of the rare genetic disorder Fanconi anemia, in which patients are extremely sensitive to crosslinking agents. Here, we discuss recent insights into ICL repair gained through new ICL repair assays and highlight the role of the Fanconi Anemia repair pathway during replication stress. PMID:22744751

Jones, Mathew JK.; Huang, Tony T.



Diamond-Blackfan anemia, ribosome and erythropoiesis  

PubMed Central

Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome (5 to 7 cases/million live births) characterized by an are generative, usually macrocytic anemia with an absence or less than 5% of erythroid precursors (erythroblastopenia) in an otherwise normal bone marrow. The platelet and the white cell counts are usually normal but neutropenia, thrombopenia or thrombocytosis have been noted at diagnosis. In 40 to 50% of DBA patients, congenital abnormalities mostly in the cephalic area and in thumbs and upper limbs have been described. Recent analysis did show a phenotype/genotype correlation. Congenital erythroblastopenia of DBA is the first human disease identified to result from defects in ribosomal biogenesis. The first ribosomal gene involved in DBA, ribosomal protein (RP) gene S19 (RPS19 gene), was identified in 1999. Subsequently, mutations in 12 other RP genes out of a total of 78 RP genes have been identified in DBA. All RP gene mutations described to date are heterozygous and dominant inheritance has been documented in 40 to 45% of affected individuals. As RP mutations are yet to be identified in approximately 50% of DBA cases, it is likely that other yet to be identified genes involved in ribosomal biogenesis or other pathways may be responsible for DBA phenotype. PMID:20655265

Costa, L. Da; Moniz, H.; Simansour, M.; Tchernia, G.; Mohandas, N.; Leblanc, T.



Molecular pathogenesis of Fanconi anemia: recent progress.  


A rare genetic disease, Fanconi anemia (FA), now attracts broader attention from cancer biologists and basic researchers in the DNA repair and ubiquitin biology fields as well as from hematologists. FA is a chromosome instability syndrome characterized by childhood-onset aplastic anemia, cancer or leukemia susceptibility, and cellular hypersensitivity to DNA crosslinking agents. Identification of 11 genes for FA has led to progress in the molecular understanding of this disease. FA proteins, including a ubiquitin ligase (FANCL), a monoubiquitinated protein (FANCD2), a helicase (FANCJ/BACH1/BRIP1), and a breast/ovarian cancer susceptibility protein (FANCD1/BRCA2), appear to cooperate in a pathway leading to the recognition and repair of damaged DNA. Molecular interactions among FA proteins and responsible proteins for other chromosome instability syndromes (BLM, NBS1, MRE11, ATM, and ATR) have also been found. Furthermore, inactivation of FA genes has been observed in a wide variety of human cancers in the general population. These findings have broad implications for predicting the sensitivity and resistance of tumors to widely used anticancer DNA crosslinking agents (cisplatin, mitomycin C, and melphalan). Here, we summarize recent progress in the molecular biology of FA and discuss roles of the FA proteins in DNA repair and cancer biology. PMID:16493006

Taniguchi, Toshiyasu; D'Andrea, Alan D



Preoperative anemia increases mortality and postoperative morbidity after cardiac surgery  

PubMed Central

Background Anemia is an established adverse risk factor in cardiovascular disease. However, the effect of preoperative anemia is not well defined in heart surgery. This study evaluates the effect of preoperative anemia on early clinical outcomes in patients undergoing cardiac surgery. Methods A retrospective, observational, cohort study of prospectively collected data was undertaken on 7,738 consecutive patients undergoing heart surgery between April 2003 and February 2009. Of these, 1,856 patients with preoperative anemia were compared to 5,882 patients without anemia (control group). According to the World Health Organization, anemia was defined as hemoglobin level?anemia was associated with tripling in the risk of death (4.6% vs 1.5%, p??7 days (54% vs 36.7%, p?anemia was an independent predictor of mortality (odds ratio [OR] 1.44, 95% confidence interval [CI] 1.02 to 2.03), postoperative renal dysfunction (OR 1.73, 95% CI 1.43 to 2.1) and length of hospital stay?>?7 days (OR 1.3, 95% CI 1.15 to 1.47). Conclusion In patients undergoing heart surgery, preoperative anemia is associated with an increased risk of mortality and postoperative morbidity. PMID:25096231



Anemia and risk of dementia in older adults  

PubMed Central

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

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



Iron and anemia in human biology: a review of mechanisms.  


The biology of iron in relation to anemia is best understood by a review of the iron cycle, since the majority of iron for erythropoiesis is provided by iron recovered from senescent erythrocytes. In iron-deficiency anemia, storage iron declines until iron delivery to the bone marrow is insufficient for erythropoiesis. This can be monitored with clinical indicators, beginning with low plasma ferritin, followed by decreased plasma iron and transferrin saturation, and culminating in red blood cells with low-Hb content. When adequate dietary iron is provided, these markers show return to normal, indicating a response to the dietary supplement. Anemia of inflammation (also known as anemia of chronic disease, or ACD) follows a different course, because in this form of anemia storage iron is often abundant but not available for erythropoiesis. The diagnosis of ACD is more difficult than the diagnosis of iron-deficiency anemia, and often the first identified symptom is the failure to show a response to a dietary iron supplement. Confirmation of ACD is best obtained from elevated markers of inflammation. The treatment of ACD, which typically employs erythropoietin (EPO) supplements and intravenous iron (i.v.-iron), is empirical and often falls shorts of therapeutic goals. Dialysis patients show a complex pattern of anemia, which results from inadequate EPO production by the kidney, inflammation, changes in nutrition, and blood losses during treatment. EPO and i.v.-iron are the mainstays of treatment. Patients with heart failure can be anemic, with incidence as high as 50%. The causes are multifactorial; inflammation now appears to be the primary cause of this form of anemia, with contributions from increased plasma volume, effects of drug therapy, and other complications of heart disease. Discerning the mechanisms of anemia for the heart failure patient may aid rational therapy in each case. PMID:18363095

Handelman, Garry J; Levin, Nathan W



Anemia management: development of a rapidaccess anemia and intravenous iron service  

PubMed Central

This article describes the initiation and evolution of the Rapid-Access Anemia Clinic (RAAC) at Guy’s and St Thomas’ Hospitals, London, UK. This clinic was set up to provide diagnosis and treatment, and to coordinate investigative procedures, where necessary, into the underlying causes of anemia. Initially piloted with anemic preoperative orthopedic patients, the clinic now treats a wide range of conditions, deriving from both internal and external referrals. Treatment includes dietary advice, supplementation with iron, vitamin B12 and folate, and blood transfusion. Most patients at the RAAC need iron replacement, the majority of which require intravenous (IV) iron. Therefore the first-line IV iron-administration protocol is carefully considered to ensure viability of the service and patient satisfaction. Four IV irons available in the UK are discussed, with explanation of the benefits and drawbacks of each product and the reasoning behind the IV iron choice at different stages of the RAAC’s development. Costs to the service, affected by IV iron price and administration regimen, are considered, as well as the product’s contraindications. Finally, the authors reflect on the success of the RAAC and how it has improved patients’ quality-of-treatment experience, in addition to benefiting the hospital and National Health Service in achieving specific health-care mandates and directives. Drawing from the authors’ experiences, recommendations are given to assist others in setting up and providing a successful rapid-access anemia service or similar facility. PMID:23950666

Radia, Deepti; Momoh, Ibrahim; Dillon, Richard; Francis, Yvonne; Cameron, Laura; Fagg, Toni-Lee; Overland, Hannah; Robinson, Susan; Harrison, Claire N



Anemia management: development of a rapidaccess anemia and intravenous iron service.  


This article describes the initiation and evolution of the Rapid-Access Anemia Clinic (RAAC) at Guy's and St Thomas' Hospitals, London, UK. This clinic was set up to provide diagnosis and treatment, and to coordinate investigative procedures, where necessary, into the underlying causes of anemia. Initially piloted with anemic preoperative orthopedic patients, the clinic now treats a wide range of conditions, deriving from both internal and external referrals. Treatment includes dietary advice, supplementation with iron, vitamin B12 and folate, and blood transfusion. Most patients at the RAAC need iron replacement, the majority of which require intravenous (IV) iron. Therefore the first-line IV iron-administration protocol is carefully considered to ensure viability of the service and patient satisfaction. Four IV irons available in the UK are discussed, with explanation of the benefits and drawbacks of each product and the reasoning behind the IV iron choice at different stages of the RAAC's development. Costs to the service, affected by IV iron price and administration regimen, are considered, as well as the product's contraindications. Finally, the authors reflect on the success of the RAAC and how it has improved patients' quality-of-treatment experience, in addition to benefiting the hospital and National Health Service in achieving specific health-care mandates and directives. Drawing from the authors' experiences, recommendations are given to assist others in setting up and providing a successful rapid-access anemia service or similar facility. PMID:23950666

Radia, Deepti; Momoh, Ibrahim; Dillon, Richard; Francis, Yvonne; Cameron, Laura; Fagg, Toni-Lee; Overland, Hannah; Robinson, Susan; Harrison, Claire N



Acute nonimmune hemolytic anemia without fulminant hepatitis in Wilson disease.  


Owing to the insidious course and variable presentation, Wilson disease is often diagnosed months to years after the initial symptoms. Although fulminant hepatitis with nonimmune hemolytic anemia is frequently reported, chronic mild hepatitis can occur with bouts of transient hemolytic anemia. We report a 16-year-old female who presented with fatigue, dizziness, and new onset jaundice. She had a hemolytic anemia, although diagnosis of Wilson disease was initially confounded by a family history of autoimmunity with a high erythrocyte sedimentation rate and only mildly elevated bilirubin and aspartate aminotransferase. Macrocytosis, poor liver synthetic function, and low serum alkaline phosphatase led to the diagnosis. PMID:21516016

Agrawal, Anurag K; Haddad, Fadi G; Matsunaga, Alison



Subacute combined degeneration without nutritional anemia.  


Subacute combined degeneration (SCD) is a rare neurological complication of cobalamin deficiency, characterized by demyelination of the dorsal and lateral spinal cord. The diagnosis and treatment of SCD can be delayed if a patient does not present with clear clinical and laboratory signs of nutritional anemia, which has a marked effect on neurological recovery. We report a 62-year-old man with SCD with a history of gastric cancer and chronic alcoholism who presented with ataxia, gait disturbance, urinary incontinence, and limb weakness, but without other clinical or laboratory signs of cobalamin deficiency. The SCD diagnosis was confirmed by 3-Tesla MRI, which showed intramedullary signal alteration in the posterior columns of the entire spinal cord. PMID:23022212

Miscusi, M; Testaverde, L; Rago, A; Raco, A; Colonnese, C



How I treat Diamond-Blackfan anemia  

PubMed Central

Diamond-Blackfan anemia (DBA) is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. In addition to being an inherited bone marrow failure syndrome, DBA is also categorized as a ribosomopathy as, in more than 50% of cases, the syndrome appears to result from haploinsufficiency of either a small or large subunit-associated ribosomal protein. Nonetheless, the exact mechanism by which haploinsufficiency results in erythroid failure, as well as the other clinical manifestations, remains uncertain. New knowledge regarding genetic and molecular mechanisms combined with robust clinical data from several international patient registries has provided important insights into the diagnosis of DBA and may, in the future, provide new treatments as well. Diagnostic criteria have been expanded to include patients with little or no clinical findings. Patient management is therefore centered on accurate diagnosis, appropriate use of transfusions and iron chelation, corticosteroids, hematopoietic stem cell transplantation, and a coordinated multidisciplinary approach to these complex patients. PMID:20651069

Muir, Ellen



How I treat acquired aplastic anemia  

PubMed Central

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

Young, Neal S.



Ubiquitylation and the Fanconi anemia pathway.  


The Fanconi anemia (FA) pathway maintains genome stability through co-ordination of DNA repair of interstrand crosslinks (ICLs). Disruption of the FA pathway yields hypersensitivity to interstrand crosslinking agents, bone marrow failure and cancer predisposition. Early steps in DNA damage dependent activation of the pathway are governed by monoubiquitylation of FANCD2 and FANCI by the intrinsic FA E3 ubiquitin ligase, FANCL. Downstream FA pathway components and associated factors such as FAN1 and SLX4 exhibit ubiquitin-binding motifs that are important for their DNA repair function, underscoring the importance of ubiquitylation in FA pathway mediated repair. Importantly, ubiquitylation provides the foundations for cross-talk between repair pathways, which in concert with the FA pathway, resolve interstrand crosslink damage and maintain genomic stability. PMID:21605559

Garner, Elizabeth; Smogorzewska, Agata



Assessing Chaos in Sickle Cell Anemia Crises  

NASA Astrophysics Data System (ADS)

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. .

Harris, Wesley; Le Floch, Francois



Hepatitis associated aplastic anemia: case report and discussion.  


Aplastic anemia (AA) is thought to represent an autoimmune disorder leading to generation of activated CD8+ T-cells that target the bone marrow precursors. Hepatitis associated aplastic anemia (HAAA) is a subtype of aplastic anemia that develops within several months ofan episode of acute hepatitis. Etiologic agents include hepatitis viruses (A-E and G), Epstein-Bar virus, cytomegalovirus, HIV, parvovirus B19, and echoviruses amongst others. However, most HAAA cases are labeled "idiopathic" as the inciting agent cannot be identified. Drugs and/or toxins are rarely causal factors. We describe herein a unique case of HAAA linked with the anabolic steroid methasterone that caused a transient cholestatic hepatitis and, subsequently, a severe aplastic anemia in a young man. PMID:25314890

Khurana, Arushi; Dasanu, Constantin A



Sickle cell anemia in Garasia tribals of Rajasthan.  


Our objective was to document the prevalence of sickle cell anemia among scheduled tribe (Garasia) of Sirohi district in Rajasthan state and study the clinical and hematological profile of the patients with sickle cell disease (Hb SS). In this prospective cross-sectional study, 1676 Garasia tribals attending the hospital or the mobile clinic were screened for sickle cell anemia by sickling test followed by confirmation with hemoglobin (Hb) electrophoresis. Prevalence of sickle cell anemia was found to be 9.2% (155/1676) of which 0.8% (14/1676) were homozygous (disease, Hb SS) whereas 8.4% were heterozygous (carrier, Hb AS). Common presentations of sickle cell disease were anemia, pain, recurrent infection and splenomegaly. PMID:19179738

Mandot, Sanjay; Khurana, Vinay Laxmi; Sonesh, Jityendra Kumar



Anemia associated with chronic heart failure: current concepts  

PubMed Central

Anemia is a frequent comorbidity of heart failure and is associated with poor outcomes. Anemia in heart failure is considered to develop due to a complex interaction of iron deficiency, kidney disease, and cytokine production, although micronutrient insufficiency and blood loss may contribute. Currently, treatment of anemia of heart failure lacks clear targets and specific therapy is not defined. Intravenous iron use has been shown to benefit anemic as well as nonanemic patients with heart failure. Treatment with erythropoietin-stimulating agents has been considered alone or in combination with iron, but robust evidence to dictate clear guidelines is not currently available. Available and emerging new agents in the treatment of anemia of heart failure will need to be tested in randomized, controlled studies. PMID:23403618

Shah, Ravish; Agarwal, Anil K



Duodenal perforation: an unusual complication of sickle cell anemia  

PubMed Central

Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia.

Ac?payam, Can; Ald?ç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; A?kar, Hasan; Dorum, Bayram Ali



Diphyllobothrium pacificum infection is seldom associated with megaloblastic anemia.  


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

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



Diphyllobothrium pacificum Infection is Seldom Associated with Megaloblastic Anemia  

PubMed Central

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

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



Activity of neutrophil NADPH oxidase in iron-deficient anemia  

Microsoft Academic Search

This study was designed to measure the effects of iron supplementation on respiratory burst in iron-deficient anemia. The\\u000a performance of neutrophils was evaluated by measuring the activity of NADPH oxidase in 18 patients with iron-deficient anemia\\u000a before and after body iron stores are saturated. The activity of NADPH oxidase was significantly lower in pretreatment patients\\u000a relative to controls (p<0.05). The

Erdal Kurtoglu; Aysegul Ugur; Abdulkerim Kasim Baltaci; Rasim Mogolkoc; Levent Undar



Sickle cell anemia causes a distinct pattern of glomerular dysfunction  

Microsoft Academic Search

Sickle cell anemia causes a distinct pattern of glomerular dysfunction. We characterized glomerular function in adults with sickle cell anemia (SSA): 12 with normal renal function (SSA-controls), and 15 with renal insufficiency (SSA-CRF). GFR was similar in SSA-controls and healthy-controls, however, renal plasma flow was increased in SSA-controls. In SSA-CRF, the albumin and IgG excretion rates were enhanced. The fractional

Antonio Guasch; Millicent Cua; Wei You; William E Mitch



Discontinuing penicillin prophylaxis in children with sickle cell anemia  

Microsoft Academic Search

Objective: To evaluate the consequences of discontinuing penicillin prophylaxis at 5 years of age in children with sickle cell anemia who had received prophylactic penicillin for much of their lives. Design: Randomized, double-blind, placebo-controlled trial. Setting: Eighteen teaching hospitals throughout the United States. Patients: Children with sickle cell anemia (hemoglobin SS or hemoglobin S ?0-thalassemia) who had received prophylactic penicillin

John M. Falletta; Gerald M. Woods; Joel I. Verter; George R. Buchanan; Charles H. Pegelow; Rathi V. Iyer; Scott T. Miller; C. Tate Holbrook; Thomas R. Kinney; Elliott Vichinsky; David L. Becton; Winfred Wang; Helen S. Johnstone; Doris L. Wethers; Gregory H. Reaman; Michael R. DeBaun; Neil J. Grossman; Karen Kalinyak; James H. Jorgensen; Ann Bjornson; Marilyn D. Thomas; Clarice Reid



Iron and anemia in human biology: a review of mechanisms  

Microsoft Academic Search

The biology of iron in relation to anemia is best understood by a review of the iron cycle, since the majority of iron for\\u000a erythropoiesis is provided by iron recovered from senescent erythrocytes. In iron-deficiency anemia, storage iron declines\\u000a until iron delivery to the bone marrow is insufficient for erythropoiesis. This can be monitored with clinical indicators,\\u000a beginning with low

Garry J. Handelman; Nathan W. Levin



Studies of the restriction of Equine Infectious Anemia Virus  

E-print Network

STUDIES OF THE RESTRICTION OF EOUINE INFECTIOUS ANEMIA VIRUS A Thesis by DAVID SCOTT GEYER Submitted to the Graduate College of Texas AAM University in partial fulfillment of the requirement for the degree of MASTER OF SCIENCE May 1981... Major Subject: Veterinary Microbiology STUDIES OF THE RESTRICTION OF EQUINE INFECTIOUS ANEMIA VIRUS A Thesis by DAVID SCOTT GEYER Approved as to style and content by: (Chairman of Committee) (Co-Chairman) (Member) (Member) O, w P (Head...

Geyer, David Scott



30 Orginal Article Clinical profile of patients with anemia  

E-print Network

Introduction: Anemia itself is not a disease but a clinical feature of some other underlying problems and leads to hypoxia and a wide range of clinical consequences. In a tertiary center like Tribhuvan University Teaching Hospital (TUTH), many patients admitted in medical wards have low hemoglobin. The objective of this study is to determine the etiology and evaluate the different components of clinical profile of the patients having anemia in medical wards of TUTH.

K. S. Lamsal


Nitrite-induced anemia in channel catfish, Ictalurus punctatus Rafinesque  

SciTech Connect

Since 1983 numerous cases of anemia have been reported in populations of channel catfish Ictalurus punctatus Rafinesque cultured in the southeastern United States. Environmental nitrite-nitrogen concentrations of 4 mg/L or more occur sporadically in channel catfish culture ponds, and the frequency of occurrence is greatest in the fall and spring. The authors have observed that some cases of anemia in populations of pond-raised channel catfish follow prolonged exposure to high concentrations of environmental nitrite. However, there was no evidence that exposure of channel catfish to environmental nitrite was the cause of the observed anemia. Hemolytic anemia following nitrite exposure has been described for sea bass Dicentrarchus labrax (L.) and rainbow trout Salmo gairdneri, but not for channel catfish. In the present study the authors show that a variable, but generally mild, anemia develops in channel catfish exposed to nitrite. They also offer a management procedure for preventing the development of anemia during periods of elevated environmental nitrite concentrations.

Tucker, C.S. (Mississippi Agricultural and Forestry Experiment Station, Stoneville (USA)); Francis-Floyd, R.; Beleau, M.H. (College of Veterinary Medicine, Stoneville, MS (USA))



Recognition of sickle cell anemia in skeletal remains of children.  


The present study discusses in detail the osteological changes associated with sickle cell anemia in children and their importance in differential diagnosis. Posterior calcaneal and specific articular surface disruptive metacarpal lesions are diagnostic for sickle cell anemia. Calvarial thickening, tibial and femoral cortical bone thickening, and bowing are of more limited utility in differential diagnosis. Granular osteoporosis, pelvic demineralization and rib broadening are nonspecific. Localized calvarial "ballooning," previously not described, may have diagnostic significance. Bone marrow hyperplastic response (porotic hyperostosis) in sickle cell anemia produces minimal radiologic changes contrasted with that observed in thalassemia and blood loss/hemolytic phenomenon. Two other issues, the osteological criteria for discriminating among the anemias and the purported relationship between porotic hyperostosis and iron deficiency anemia, are also discussed. There is sufficient information to properly diagnose the four major groups of anemias, and further, to establish that iron deficiency is only indirectly associated with porotic hyperostosis. The hyperproliferative bone marrow response (manifest as porotic hyperostosis) to blood loss or hemolysis exhausts iron stores, resulting in secondary iron deficiency. PMID:9386828

Hershkovitz, I; Rothschild, B M; Latimer, B; Dutour, O; Léonetti, G; Greenwald, C M; Rothschild, C; Jellema, L M



Altered translation of GATA1 in Diamond-Blackfan anemia.  


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

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



Comprehensive analysis of pathogenic deletion variants in fanconi anemia genes.  


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

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



Distinct roles for hepcidin and interleukin-6 in the recovery from anemia in mice injected with heat-killed Brucella abortus.  


Anemia of inflammation (AI) is commonly observed in chronic inflammatory states and may hinder patient recovery and survival. Induction of hepcidin, mediated by interleukin 6, leads to iron-restricted erythropoiesis and anemia. Several translational studies have been directed at neutralizing hepcidin overexpression as a therapeutic strategy against AI. However, additional hepcidin-independent mechanisms contribute to AI, which are likely mediated by a direct effect of inflammatory cytokines on erythropoiesis. In this study, we used wild-type, hepcidin knockout (Hamp-KO) and interleukin 6 knockout (IL-6-KO) mice as models of AI. AI was induced with heat-killed Brucella abortus (BA). The distinct roles of iron metabolism and inflammation triggered by interleukin 6 and hepcidin were investigated. BA-treated wild-type mice showed increased expression of hepcidin and inflammatory cytokines, as well as transitory suppression of erythropoiesis and shortened red blood cell lifespan, all of which contributed to the severe anemia of these mice. In contrast, BA-treated Hamp-KO or IL-6-KO mice showed milder anemia and faster recovery compared with normal mice. Moreover, they exhibited different patterns in the development and resolution of anemia, supporting the notion that interleukin 6 and hepcidin play distinct roles in modulating erythropoiesis in AI. PMID:24357729

Gardenghi, Sara; Renaud, Tom M; Meloni, Alessandra; Casu, Carla; Crielaard, Bart J; Bystrom, Laura M; Greenberg-Kushnir, Noa; Sasu, Barbra J; Cooke, Keegan S; Rivella, Stefano



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

Code of Federal Regulations, 2010 CFR

...Interstate movement of equine infectious anemia reactors and approval of laboratories...MULES, AND ZEBRAS Equine Infectious Anemia (swamp Fever) § 75.4 Interstate movement of equine infectious anemia reactors and approval of...



Gastric antral vascular ectasia causing severe anemia.  


Gastric antral vascular ectasia (GAVE) that caused continuous gastrointestinal bleeding is reported in a 76-year-old woman who had been treated with repeated blood transfusions because of severe anemia. Endoscopic examination was performed and diffuse speckled telangiectasia of the entire antrum was observed. Laboratory data showed SGOT > SGPT, decreased chE level and the increased levels of serum gastrin and ICG at 15 min. Anti-HCV antibody was positive. Image examination revealed splenomegaly. There was no family history of telangiectasia, and no telangiectasia was found in other organs. The diagnosis was established as GAVE with liver cirrhosis. Surgical resection of the distal stomach resulted in termination of the bleeding, and the cirrhotic changes of the surface of the liver were revealed at that time, providing further evidence of liver cirrhosis. Although the pathogenesis of GAVE is unknown, liver cirrhosis and hypergastrinemia are thought to be associated with the condition. Importantly, this condition is a cause of severe gastrointestinal bleeding in elderly patients. PMID:8887039

Toyota, M; Hinoda, Y; Nakagawa, N; Arimura, Y; Tokuchi, S; Takaoka, A; Kitagawa, S; Usuki, T; Yabana, T; Yachi, A; Imai, K



Bone marrow culture in aplastic anemia.  

PubMed Central

Blood and bone marrow granulocyte colony forming units (CFUc) were assayed in 46 patients with aplastic anemia, and the serum was examined for its inhibitory action on normal CFUc growth. All patients showed a gross reduction in colonies and clusters in incidence and absolute number in the bone marrow and blood. Two proliferative abnormalities of CFUc in aplastic anaemia were identified: a significantly higher than normal cluster to colony ratio (P less than 0.05) and a higher than normal ratio of granulocytes to total aggregates in the bone marrow. Eleven out of 34 patients tested had serum inhibitory to normal CFUc. These patients were indistinguishable from the rest on haematological and CFUc culture characteristics, and no correlation between the results of CFUc assay and haematological severity was found. The results suggest that the CFUc is abnormal in aplastic anaemia, the reduction in pool size being related to a failure of self-renewal, but an immunological role in the pathogenesis of aplastic anaemia remains unproven. The close relationship of CFUc incidence to the percentage of granulocyte precursors in the marrow, together with the failure of the CFUc assay to predict clinical severity, limits the practical use of the assay to the confirmation of diagnosis in aplastic anaemia. PMID:500837

Barrett, A J; Faille, A; Balitrand, N; Ketels, F; Najean, Y



Autoimmune hemolytic anemia in chronic mucocutaneous candidiasis.  

PubMed Central

Chronic mucocutaneous candidiasis is an immunodeficiency disease characterized by T-cell dysregulation and chronic superficial candidal infections. We report on three patients with chronic mucocutaneous candidiasis who developed autoantibodies to erythrocytes. Our first patient, a 19-year-old female, developed autoimmune hemolytic anemia (AIHA) that required multiple courses of treatment, including corticosteroids, intravenous immunoglobulin, and danazol. During the last exacerbation of AIHA, intensive treatment with corticosteroids and intravenous immunoglobulin failed and yet the patient responded to plasmapheresis. Our second patient, a 21-year-old male, developed AIHA which responded to oral corticosteroid therapy. Our third patient, a 6-year-old female without evidence of hemolysis, was found to have erythrocyte autoantibodies on routine screening. These three patients had positive direct antiglobulin tests, and the first patient had both immunoglobulin G (IgG) and IgM erythrocyte autoantibodies, while the remaining two patients had only IgG autoantibody. This is the first report of the association of AIHA with chronic mucocutaneous candidiasis. We suggest that all patients with chronic mucocutaneous candidiasis be screened periodically for erythrocyte autoantibodies. Plasmapheresis, a safe ancillary procedure in the management of AIHA, may be life-saving in some cases. The occurrence of erythrocyte autoantibodies in mucocutaneous candidiasis may be related to immunoregulatory disorders in this disease. PMID:7496919

Oyefara, B I; Kim, H C; Danziger, R N; Carroll, M; Greene, J M; Douglas, S D



[Chronic anemia: diagnostic tools and approach].  


Anaemia is frequently encountered in daily practice. With full knowledge of its pathophysiology a rational classification is possible allowing a suitable approach for diagnostic investigations. In a first stage, the data provided by blood counts, erythrocyte constants and reticulocyte counts guide the diagnostic rationale. In cases with microcytic and hypochromic anaemia, measurement of ferritin level separates iron deficiency anaemia from the so-called "inflammatory" anaemias. A high number of reticulocytes points to haemolytic anaemia. Among the many causes of haemolysis, one must first look for autoimmune haemolysis. Elsewhere, the clinical context and morphological red cell abnormalities point to a hereditary disease affecting the erythrocyte membrane, enzymes or globin content. Although rare, microangiopathic anemia with schizocytosis and paroxysmal nocturnal haemoglobinuria must not be misdiagnosed. Bone marrow examination remains the clue in non-regenerative normochromic, normo- or macrocytic anaemias. In difficult cases, other investigations, such as cytogenetics, isotopic examination and progenitor culture, may help in characterizing the anaemia. Serum erythroproietin essays and plasma transferrin receptor counts will soon figure among the methods used to explore anaemias. PMID:8235380

Pignon, J M; Rochant, H



The Fanconi anemia pathway of genomic maintenance.  


Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failure, hypersensitivity to DNA cross-linking agents, chromosomal instability and susceptibility to cancer. At least 12 genetic subtypes have been described (FA-A, B, C, D1, D2, E, F, G, I, J, L, M) and all except FA-I have been linked to a distinct gene. Most FA proteins form a complex that activates the FANCD2 protein via monoubiquitination, while FANCJ and FANCD1/BRCA2 function downstream of this step. The FA proteins typically lack functional domains, except for FANCJ/BRIP1 and FANCM, which are DNA helicases, and FANCL, which is probably an E3 ubiquitin conjugating enzyme. Based on the hypersensitivity to cross-linking agents, the FA proteins are thought to function in the repair of DNA interstrand cross-links, which block the progression of DNA replication forks. Here we present a hypothetical model, which not only describes the assembly of the FA pathway, but also positions this pathway in the broader context of DNA cross-link repair. Finally, the possible role for the FA pathway, in particular FANCF and FANCB, in the origin of sporadic cancer is discussed. PMID:16675878

Levitus, Marieke; Joenje, Hans; de Winter, Johan P



Fanconi anemia proteins stabilize replication forks.  


Fanconi anemia (FA) is a recessive genetic disorder characterized by hypersensitivity to crosslinking agents that has been attributed to defects in DNA repair and/or replication. FANCD2 and the FA core complex bind to chromatin during DNA replication; however, the role of FA proteins during replication is unknown. Using Xenopus cell-free extracts, we show that FANCL depletion results in defective DNA replication restart following treatment with camptothecin, a drug that results in DSBs during DNA replication. This defect is more pronounced following treatment with mitomycin C, presumably because of an additional role of the FA pathway in DNA crosslink repair. Moreover, we show that chromatin binding of FA core complex proteins during DNA replication follows origin assembly and origin firing and is dependent on the binding of RPA to ssDNA while FANCD2 additionally requires ATR, consistent with FA proteins acting at replication forks. Together, our data suggest that FA proteins play a role in replication restart at collapsed replication forks. PMID:18786657

Wang, Lily Chien; Stone, Stacie; Hoatlin, Maureen Elizabeth; Gautier, Jean



[Diagnosis of hypochromic microcytic anemia in children].  


Iron deficiency is the most frequent cause of hypochromic microcytic anemia in children, but other causes, some of them requiring specific management, may be involved. Checking the iron-status is absolutely mandatory. When iron-status parameters are low, inadequate intake, malabsorption, blood loss, and abnormal iron utilization must be tested. In absence of iron deficiency, ?- and ?-globin and heme biosynthetic gene status must be checked. Assessing the iron stock level is difficult, because there is an overlap between the values observed in iron-replete and iron-deprived patients, so that at least 2 iron-status parameters must be below normal for diagnosing iron deficiency. Furthermore, inflammation may also mimic some characteristics of iron deficiency. Diagnosing iron deficiency leads to prescribing iron supplementation with follow-up at the end and 3 months after cessation of treatment. When iron stores are not replete at the end of treatment, compliance and dosage must be reevaluated and occult bleeding sought. The latter is also required when the iron store decreases 3 months after cessation of iron replacement. PMID:22310020

de Montalembert, M; Bresson, J-L; Brouzes, C; Ruemmele, F-M; Puy, H; Beaumont, C



Recent advances in treatment of aplastic anemia  

PubMed Central

Recent advances in the treatment of aplastic anemia (AA) made most of patients to expect to achieve a long-term survival. Allogeneic stem cell transplantation (SCT) from HLA-matched sibling donor (MSD-SCT) is a preferred first-line treatment option for younger patients with severe or very severe AA, whereas immunosuppressive treatment (IST) is an alternative option for others. Horse anti-thymocyte globuline (ATG) with cyclosporin A (CsA) had been a standard IST regimen with acceptable response rate. Recently, horse ATG had been not available and replaced with rabbit ATG in most countries. Subsequently, recent comparative studies showed that the outcomes of patients who received rabbit ATG/CsA were similar or inferior compared to those who received horse ATG/CsA. Therefore, further studies to improve the outcomes of IST, including additional eltrombopag, are necessary. On the other hand, the upper age limit of patients who are able to receive MSD-SCT as first-line treatment is a current issue because of favorable outcomes of MSD-SCT of older patients using fludarabine-based conditioning. In addition, further studies to improve the outcomes of patients who receive allogeneic SCT from alternative donors are needed. In this review, current issues and the newly emerging trends that may improve their outcomes in near futures will be discussed focusing the management of patients with AA. PMID:25378968

Shin, Seung Hwan; Lee, Sung Eun



Factors Influencing Spore Germination and Early Gametophyte Development in Anemia mexicana and Anemia phyllitidis1  

PubMed Central

Spores of Anemia mexicana Klotzsch and Anemia phyllitidis (L.) Swartz were tested comparatively to investigate the effects of various treatments on spore germination and early gametophyte development in light and darkness. The optimum pH for induction of spore germination is approximately 6. Both species have a minimum 8 hour light insensitive preinduction phase for spore germination. An additional 8 to 12 hours of light are needed to induce 50% germination in A. phyllitidis while at least 24 hours of light are needed for A. mexicana spores. A. phyllitidis has greater sensitivity to the four gibberellic acids tested (GA3, GA4, GA7, and GA13) than A. mexicana for induction of spore germination in darkness. In both species the greatest response was observed with GA4 and GA7. GA13 was clearly the least effective. Gametophytes of each species are 100 times more sensitive to their own antheridiogen than to the antheridiogen of the other species. AMO-1618 (1 millimolar), fenarimol (1 mm), and ancymidol (0.1 mm) had essentially no effect on light-induced germination. The latter two did, however, inhibit gametophyte development. Images Fig. 4 Fig. 5 Fig. 6 Fig. 7 Fig. 8 Fig. 9 PMID:16664998

Nester, Joan E.; Coolbaugh, Ronald C.



Iron deficiency anemia in patients with inflammatory bowel disease  

PubMed Central

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

Goldberg, Neil D



New strategies for managing anemia of chronic kidney disease.  


Anemia is a prevalent and premature comorbidity in chronic kidney disease (CKD) and associated with multiple adverse clinical consequences including increased mortality. Today Erythropoiesis-stimulating agents (ESAs), together with iron supplementation, are the cornerstones of therapy for correcting anemia in CKD patients. As no generally accepted dosing algorithms for these agents exist, current recommendations prefer a partial but not complete anemia correction thereby favoring a more conservative and individualized ESA and iron dosing. Here we discuss in detail current evidence derived from large randomized trials about the proposed hemoglobin targets to aim at in CKD and End-Stage renal disease patients and report recent data from the thriving European market of biosimilar erythropoietins. We summarize promising investigational strategies including peginesatide and prolyl hydroxylase inhibitors for stabilization of the hypoxia inducible factor and provide a clinical review of novel high dose iron formulations like ferumoxytol or iron (III)-carboxymaltose. Taking these findings together, treatment strategies for anemia of CKD have got considerably more complicated so that a careful balance between maximization of patient`s quality of life while minimizing all risks associated with anemia treatment has become a major task of current nephrology. PMID:22642238

Schmid, Holger; Schiffl, Helmut; Lederer, Stephan R



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


Treatment of Anemia in Patients With Heart Disease: A Clinical Practice Guideline From the American College of Physicians The full report is titled “Treatment of Anemia in Patients With Heart Disease: A Clinical Practice ...


Monthly Blood Transfusions Reduce Sickle Cell Anemia-Related Brain Injury in Children  


... M. EDT Monthly blood transfusions reduce sickle cell anemia-related brain injury in children NIH-funded study ... in one third of children with sickle cell anemia, according to a study funded by the National ...


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

E-print Network

Mechanisms of Homogeneous Nucleation of Polymers of Sickle Cell Anemia Hemoglobin in Deoxy State these determinations occurs homogeneously and not on foreign substrates; (ii) individual nucleation events reserved. Keywords: sickle cell anemia; hemoglobin S polymerization; fiber nucleation; homogeneous

Vekilov, Peter


Trends in anemia at initiation of dialysis in the United States  

Microsoft Academic Search

Trends in anemia at initiation of dialysis in the United States.BackgroundAnemia almost invariably develops in patients with chronic renal insufficiency (CRI) and is associated with a wide range of complications. The anemia of CRI can be effectively treated with recombinant human erythropoietin (rHuEPO). Recent studies suggest that the management of anemia of CRI is suboptimal in the United States.MethodsWe examined

Gregorio T. Obrador; Tricia Roberts; Wendy L. St. Peter; Eric Frazier; Brian J. G. Pereira; Allan J. Collins



Fatal anemia and dermatitis in captive agoutis ( Dasyprocta mexicana) infested with Echidnophaga fleas  

Microsoft Academic Search

Two captive agoutis (Dasyprocta mexicana) died of anemia with centrilobular hepatocellular necrosis (2\\/2), severe flea ectoparasitism (2\\/2), and cardiomegaly attributed to anemia (1\\/2). Other agoutis were similarly parasitized and one had anemia. Fleas were manually removed and all agoutis treated topically with propoxur and selamectin and moved to another enclosure. No additional cases of fatal anemia were seen. Cutaneous lesions

Karina Cucchi-Stefanoni; Carles Juan-Sallés; Alberto Parás; Michael M. Garner



Umbilical Artery Doppler Velocimetry in Pregnant Women with Iron Deficiency Anemia  

Microsoft Academic Search

UMB?L?CAL ARTERY DOPPLER VELOC?METRY ?N PREGNANT WOMEN WITH IRON DEF?C?ENCY ANEMIA Obiective: To detect possible fetoplacental vascular compromise by Doppler velocimetry in pregnant vvomen with iron de- ficiency anemia and to compare the outcomes of pregnancies in vvomen vvith and vvithout iron deficiency anemia. Methods: 78 vvomen vvith mild iron deficiency anemia Hb: 9.97±0.7 gr\\/dl, ferritin 9.6±2.1 ugr\\/L and 156



Iron Deficiency Anemia: A Common and Curable Disease  

PubMed Central

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

Miller, Jeffery L.



[Anemia caused by cancer in the context of palliative care].  


Tumor anemia is very common in patients with cancer. The causes are very diverse and the parameter value depends on several factors. If this however develops to be symptomatic it may adversely impact health related quality of life. Erythropoietin or blood transfusion provides options for treatment. However, these are not always uneventful. There could also be a lack of response to Erythropoietin. This case report describes the complexity of tumor anemia. It also includes a more detailed discussion on the Fatigue Syndrome, which is one of the most common symptoms of patients with cancer. In the context of palliative care there is often the question of alternatives for improving the quality of patients life. Some kinds of treatment may also cause the opposite effect. A multidimensional assessment should help to approach this difficult issue and to find ways for a meaningful treatment of the symptoms of anemia. PMID:22328049

Altinger, Marion; Strasser, Florian



Iron deficiency anemia: a common and curable disease.  


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

Miller, Jeffery L



Imaging diagnosis of neonatal anemia: report of two unusual etiologies.  


Anemia in neonatal period is rare, with the common causes being Rh and ABO blood group incompatibility, hemorrhagic disease of newborn, congenital hemolytic anemia, hemoglobinopathies, and TORCH (toxoplasmosis, rubella, cytomegalovirus, herpes virus) infections. Congenital leukemia and infantile osteopetrosis (OP) are among the rare causes of neonatal anemia. A review of the literature shows approximately 200 reported cases of congenital leukemia. Articles describing the imaging features of congenital leukemia are still rarer. Infantile OP, another rare disorder with a reported incidence of 1 in 250,000 has characteristic imaging features, which are diagnostic of the disease. We report a case each, of two rare diseases: Congenital leukemia and infantile osteopetrosis. Additionally, our report highlights the radiological and imaging features of congenital leukemia and infantile OP and their crucial role in arriving at an early diagnosis. PMID:24605254

Grover, Shabnam Bhandari; Preethi, G Rajalakshmi; Saluja, Sumita; Bhargava, Ankit



Erythropoiesis during recovery from macrocytic anemia: macrocytes, normocytes, and microcytes.  


In seven patients with marked megaloblastic anemia (MCV greater than 110 fl), red cell size distribution curves (erythrograms) demonstrated the size of red cells produced after therapy. In six, the new red cells were normocytic throughout recovery. In the seventh patient, folate repletion along produced a new population of microcytes, due to unsuspected iron deficiency; after iron repletion normocytes were produced. Three patients with autoimmune hemolytic anemia had macrocytosis (MCV greater than 110 fl) without folate or vitamin B12 deficiency. During recovery with predisone therapy, instead of a discrete new normocytic population appearing, the entire population progressively returned to normal size. Normal rather than "stress" reticulocytes, and remodeled stress reticulocytes remaining, may explain this different pattern of recovery. Two patients initially had minor subpopulations of smaller red cells that disappeared soon after therapy. These probably reflected the dyserythropoiesis of severe megaloblastic anemia. PMID:922166

Bessman, D



Sleep alterations and iron deficiency anemia in infancy  

PubMed Central

Iron-deficiency anemia (IDA) continues to be the most common single nutrient deficiency in the world. An estimated 20-25% of the world’s infants have IDA, with at least as many having iron deficiency without anemia. Infants are at particular risk due to rapid growth and limited dietary sources of iron. We found that infants with IDA showed different motor activity patterning in all sleep-waking states and several differences in sleep states organization. Sleep alterations were still apparent years after correction of anemia with iron treatment in the absence of subsequent IDA. We suggest that altered sleep patterns may represent an underlying mechanism that interferes with optimal brain functioning during sleep and wakefulness in former IDA children. PMID:20620103

Peirano, Patricio D.; Algarin, Cecilia R.; Chamorro, Rodrigo A.; Reyes, Sussanne C.; Duran, Samuel A.; Garrido, Marcelo I.; Lozoff, Betsy



Iron-Deficiency Anemia in Infancy and Social Emotional Development in Preschool-Aged Chinese Children  

Microsoft Academic Search

Objective: We aimed to compare affect and behavior of 3 groups of nonanemic 4-year-old children: children with iron-deficiency anemia (IDA) in infancy whose anemia was not corrected before 24 months (chronic IDA) (n = 27); children with IDA in infancy whose anemia was corrected before 24 months (corrected IDA) (n = 70); and children who were nonanemic in infancy and

S. Chang; L. Wang; Y. Wang; I. D. Brouwer; F. J. Kok; B. Lozoff; C. Chen



Anemia and iron deficiency in heart failure: mechanisms and therapeutic approaches  

Microsoft Academic Search

Anemia and iron deficiency are common in patients with heart failure (HF), and are associated with worse symptoms and adverse outcomes in this population. Although the two can occur together, anemia in HF is often not caused by iron deficiency, and iron deficiency can be present without causing anemia. Erythropoiesis-stimulating agents have been investigated extensively in the past few years

Stefan D. Anker; Piotr Ponikowski; Iain C. Macdougall; Dirk J. van Veldhuisen



Validation of a patient satisfaction questionnaire for anemia treatment, the PSQ-An  

Microsoft Academic Search

BACKGROUND: Treating anemia associated with chemotherapy and many cancers is often necessary. However, patient satisfaction with anemia treatment is limited by the lack of validated instruments. We developed and validated a new treatment-specific patient satisfaction instrument: the Patient Satisfaction Questionnaire for Anemia Treatment (PSQ-An). Treatment burden and overall satisfaction scales were designed for ease of use in clinical practice. METHODS:

Robert J Nordyke; Chih-Hung Chang; Chiun-Fang Chiou; Joel F Wallace; Bin Yao; Lee S Schwartzberg



Improving the Management of Anemia in Hemodialysis Patients by Implementing the Continuous Quality Improvement Program  

Microsoft Academic Search

Background: Anemia is common in hemodialysis patients, and improvement in anemia management is possible with the implementation of continuous quality improvement (CQI) programs. The aim of this study is to improve anemia management in chronic hemodialysis patients using CQI. Methods: Ninety hemodialysis patients in our single center were enrolled in the study. The patients were followed up from January 2004

Min Chen; Jin-Hua Deng; Fu-De Zhou; Mei Wang; Hai-Yan Wang



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



E-print Network

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

Valafar, Faramarz


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

ERIC Educational Resources Information Center

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.…

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



Peginesatide for the treatment of anemia in the nephrology setting.  


Anemia is a major complication in patients with chronic kidney disease, as the damaged kidney is unable to produce enough erythropoietin. Peginesatide (formerly known as Hematide™) is a synthetic, peptide-based erythropoiesis-stimulating agent linked to polyethylene glycol. Based on extensive preclinical and clinical data substantiating the efficacy and safety of this agent, it was approved in the U.S. in March 2012 for the treatment of anemia due to chronic kidney disease in adult patients on dialysis. Peginesatide (Omontys®) was launched in the U.S. in April 2012. PMID:22745925

Graul, A I



Intravenous ferric carboxymaltose accelerates erythropoietic recovery from experimental malarial anemia.  


Iron restriction has been proposed as a cause of erythropoietic suppression in malarial anemia; however, the role of iron in malaria remains controversial, because it may increase parasitemia. To investigate the role of iron-restricted erythropoiesis, A/J mice were infected with Plasmodium chabaudi AS, treated with intravenous ferric carboxymaltose at different times, and compared with untreated controls. Iron treatment significantly increased weight and hemoglobin nadirs and provided enhanced reticulocytosis and faster recovery, compared with controls. Our findings challenge the restrictive use of iron therapy in malaria and show the need for trials of intravenous ferric carboxymaltose as an adjunctive treatment for severe malarial anemia. PMID:22357662

Maretty, Lasse; Sharp, Rebecca Emilie; Andersson, Mikael; Kurtzhals, Jørgen A L



Development of a fluorescent antibody test for equine infectious anemia  

E-print Network

DEVELOPME', T OF A. FLUORESCENT ANTIBODY TES FOR EQUINE INFECTIOUS ANEMIA A Thesis by X". -AROMAS LEE LESTER S -:m'tted -';. . . ? . e 6:. acuate College o'. T, "~a=- AV: Un'. =rs: -y in partial fnlf'' ment of he re. ir ment for the degree... of MASTER OF SCIENCE May 5'. 2 or Sub j ecr Veter F" =ry Microbiology DEVELOPMENT OF A FLUORESCENT ANTIBODY TEST FOR EQUiNE INFECTIOUS ANEMIA A Thesis by THOMAS LEE LESTER Approved as to style and content by: Chairman of Committee Head...

Lester, Thomas Lee



Coomb's Positive Hemolytic Anemia Due To Insect Bite  

PubMed Central

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



Fanconi Anemia Links Reactive Oxygen Species to Insulin Resistance and Obesity  

PubMed Central

Abstract Aims: Insulin resistance is a hallmark of obesity and type 2 diabetes. Reactive oxygen species (ROS) have been proposed to play a causal role in insulin resistance. However, evidence linking ROS to insulin resistance in disease settings has been scant. Since both oxidative stress and diabetes have been observed in patients with the Fanconi anemia (FA), we sought to investigate the link between ROS and insulin resistance in this unique disease model. Results: Mice deficient for the Fanconi anemia complementation group A (Fanca) or Fanconi anemia complementation group C (Fancc) gene seem to be diabetes-prone, as manifested by significant hyperglycemia and hyperinsulinemia, and rapid weight gain when fed with a high-fat diet. These phenotypic features of insulin resistance are characterized by two critical events in insulin signaling: a reduction in tyrosine phosphorylation of the insulin receptor (IR) and an increase in inhibitory serine phosphorylation of the IR substrate-1 in the liver, muscle, and fat tissues from the insulin-challenged FA mice. High levels of ROS, spontaneously accumulated or generated by tumor necrosis factor alpha in these insulin-sensitive tissues of FA mice, were shown to underlie the FA insulin resistance. Treatment of FA mice with the natural anti-oxidant Quercetin restores IR signaling and ameliorates the diabetes- and obesity-prone phenotypes. Finally, pairwise screen identifies protein-tyrosine phosphatase (PTP)-? and stress kinase double-stranded RNA-dependent protein kinase (PKR) that mediate the ROS effect on FA insulin resistance. Innovation: These findings establish a pathogenic and mechanistic link between ROS and insulin resistance in a unique human disease setting. Conclusion: ROS accumulation contributes to the insulin resistance in FA deficiency by targeting both PTP-? and PKR. Antioxid. Redox Signal. 00, 000–000. PMID:22482891

Li, Jie; Sipple, Jared; Maynard, Suzette; Mehta, Parinda A.; Rose, Susan R.; Davies, Stella M.



Severe Malarial Anemia: Innate Immunity and Pathogenesis  

PubMed Central

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

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



Chromosomes to Genes to Proteins: The Story of Sickle Cell Anemia  

NSDL National Science Digital Library

This unit, developed by Charlotte Mulvihill, DeAnn Campbell, and Megan Waugh at Oklahoma City Community College, explores the story of "disease genes" and sickle cell anemia. The unit is divided into six parts, each one with questions that check for student understanding: Molecular Biology of Sickle Cell Anemia, Genetics of Sickle Cell Anemia, a Laboratory in which students use electrophoresis to test blood for the disease, Bioinformatics of Sickle Cell Anemia, Inquiry on Sickle Cell Anemia, and an Assessment section with a number of questions for students to complete.

Campbell, Deann; Mulvihill, Charlotte; Waugh, Megan



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

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



Clomiphene-responsive hypogonadism in sickle cell anemia.  


Two 19-year-old men with sickle cell anemia and hypogonadism had hypothalamic dysfunction that responded to oral clomiphene therapy. The patients had no nutritional deficiencies or anatomic lesions known to result in the hypogonadism associated with sickle cell anemia. Their sickle cell disease was characterized by infrequent crises, severe hemolytic anemia, urinary iron loss, and iron deficiency. Partial hypothalamic hypogonadism was shown by low levels of testosterone, low to low-normal levels of luteinizing hormone and follicle-stimulating hormone, and a nearly normal rise in gonadotropin levels in response to exogenous gonadotropin releasing hormone. Treatment with oral clomiphene raised luteinizing hormone, follicle-stimulating hormone, and testosterone levels to normal, and induced puberty in both patients. Treatment was discontinued in one patient because of the onset of priapism, but was continued for 10 months without side effects in the other. Severe hypogonadism in patients with sickle cell anemia should be thoroughly evaluated and clomiphene therapy considered in patients with hypothalamic dysfunction. PMID:6414355

Landefeld, C S; Schambelan, M; Kaplan, S L; Embury, S H



Neocytolysis contributes to the anemia of renal disease  

Microsoft Academic Search

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

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



Congenital Nonspherocytic Hemolytic Anemia With an Unstable Hexokinase Variant  

Microsoft Academic Search

We report a family with a new hexokinase mal reaction kinetics, and normal dee- variant that gives rise to nonspherocytic trophoretic properties, but has reduced hemolytic anemia in one apparently activity and is apparently inactivated homozygous family member. The variant rapidly as the affected erythrocytes age. enzyme has a normal pH optimum, nor- B ECAUSE ERYTHROCYTE HEXOKINASE (HK) has a

P. G. Board; R. Trueworthy; J. E. Smith; Kateri Moore



Hemolytic anemia associated with heterograft replacement of the mitral valve.  


The first case of overt hemolytic anemia following mitral valve replacement with a porcine heterograft is reported. Cardiac catheterization failed to reveal a paravalvular leak or valvular incompetence to account for the hemolysis. Red cell traumatization by the Dacron-covered Stellite ring and stent is suggested as the cause of hemolysis with the porcine heterograft. PMID:567264

Myers, T J; Hild, D H; Rinaldi, M J



Novel Human Erythrovirus Associated with Transient Aplastic Anemia  

Microsoft Academic Search

Erythrovirus (formerly parvovirus) B19 causes a wide range of diseases in humans, including anemia due to aplastic crisis. Diagnosis of B19 infection relies on serology and the detection of viral DNA by PCR. These techniques are usually thought to detect all erythrovirus field isolates, since the B19 genome is known to undergo few genetic variations. We have detected an erythrovirus




Perioperative anemia management in colorectal cancer patients: A pragmatic approach  

PubMed Central

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

Munoz, Manuel; Gomez-Ramirez, Susana; Martin-Montanez, Elisa; Auerbach, Michael



Abnormal Pulmonary Function in Adults with Sickle Cell Anemia  

Microsoft Academic Search

Rationale: Pulmonary complications of sickle cell anemia (Hb-SS) commonly cause morbidity, yet few large studies of pulmonary function tests (PFTs) in this population have been reported. Objectives: PFTs (spirometry, lung volumes, and diffusion capacity for carbon monoxide (DLCO)) from 310 adults with Hb-SS were ana- lyzed to determine the pattern of pulmonary dysfunction and their association with other systemic complications

Elizabeth S. Klings; Diego F. Wyszynski; Vikki G. Nolan; Martin H. Steinberg



Hydroxyurea and sickle cell anemia: effect on quality of life  

Microsoft Academic Search

BACKGROUND: The Multicenter Study of Hydroxyurea (HU) in Sickle Cell Anemia (MSH) previously showed that daily oral HU reduces painful sickle cell (SS) crises by 50% in patients with moderate to severe disease. The morbidity associated with this disease is known to have serious negative impact on the overall quality of life(QOL) of affected individuals. METHODS: The data in this

Samir K Ballas; Franca B Barton; Myron A Waclawiw; Paul Swerdlow; James R Eckman; Charles H Pegelow; Mabel Koshy; Bruce A Barton; Duane R Bonds



Early glomerular dysfunction in patients with sickle cell anemia  

Microsoft Academic Search

The purpose of this study was to analyze the determinants of glomerular filtration in nonnephrotic young adult patients with sickle cell anemia (SCA). We prospectively screened 14 patients with homozygous SCA who had normal plasma creatinine concentrations and normal or moderately elevated albuminuria (

F Schmitt; F Martinez; G Brillet; I Giatras; G Choukroun; R Girot; D Bachir; F Galacteros; B Lacour; JP Grunfeld



Prenatal Diagnosis of Fanconi Anemia: Functional and Molecular Testing  

Microsoft Academic Search

There are two main approaches to the prenatal confirmation or exclusion of Fanconi anemia: functional testing and molecular testing. Functional testing involves the determination of crosslink sensitivity either by chromosome breakage analysis or cell cycle testing. Indications for functional testing include ultrasonographic findings of radial ray defects in the absence of a family history of FA, but also testing of

A. Bechtold; R. Kalb; K. Neveling; R. Friedl; B. Gottwald; S. Herterich; M. Liner; C. Heilmann; H. Hanenberg; D. Schindler



IV Iron Effective in Treating Chemotherapy-Induced Anemia

Two studies in the April 1, 2008, Journal of Clinical Oncology found that intravenous iron significantly improves hemoglobin levels in patients taking erythropoietin-stimulating agents (ESAs) for chemotherapy-induced anemia compared with ESAs alone or ESAs plus oral iron.


Behavior of Infants with Iron-Deficiency Anemia.  

ERIC Educational Resources Information Center

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…

Lozoff, Betsy; And Others



Cost-effectiveness of continuous erythropoietin receptor activator in anemia  

PubMed Central

Background Erythropoiesis-stimulating agents (ESAs) are the mainstay of anemia therapy. Continuous erythropoietin receptor activator (CERA) is a highly effective, long-acting ESA developed for once-monthly dosing. A multitude of clinical studies has evaluated the safety and efficiency of this treatment option for patients with renal anemia. In times of permanent financial pressure on health care systems, the cost-effectiveness of CERA should be of particular importance for payers and clinicians. Objective To critically analyze, from the nephrologists’ point of view, the published literature focusing on the cost-effectiveness of CERA for anemia treatment. Methods The detailed literature search covered electronic databases including MEDLINE, PubMed, and Embase, as well as international conference abstract databases. Results Peer-reviewed literature analyzing the definite cost-effectiveness of CERA is scarce, and most of the available data originate from conference abstracts. Identified data are restricted to the treatment of anemia due to chronic kidney disease. Although the majority of studies suggest a considerable cost advantage for CERA, the published literature cannot easily be compared. While time and motion studies clearly indicate that a switch to CERA could minimize health care staff time in dialysis units, the results of studies comparing direct costs are more ambivalent, potentially reflecting the differences between health care systems and variability between centers. Conclusion Analyzed data are predominantly insufficient; they miss clear evidence and have to thus be interpreted with great caution. In this day and age of financial restraints, results from well-designed, head-to-head studies with clearly defined endpoints have to prove whether CERA therapy can achieve cost savings without compromising anemia management. PMID:25050070

Schmid, Holger



Mechanisms of equine infectious anemia virus escape from neutralizing antibody responses define epitope specificity.  


Determining mechanisms of viral escape to particular epitopes recognized by virus-neutralizing antibody can facilitate characterization of host-neutralizing antibody responses as type- versus group-specific, and provides necessary information for vaccine development. Our study reveals that a single N-glycan located in the 5' region of the Wyoming wild-type equine infectious anemia virus (EIAV) principal neutralizing domain (PND) accounts for the differences in neutralization phenotype observed between PND variants, while variations in charged amino acids within the PND do not appear to play a key role in viral escape. Site-directed mutagenesis and peptide mapping of a conserved epitope to neutralizing antibody in the 3' region of the PND showed rapid selective pressure for acquisition of a 5' PND N-glycan responsible for defining the specificity of the neutralizing-antibody response. PMID:22746986

Sponseller, Brett A; Clark, Sandra K; Friedrich, Rachel A



Effect of Iron Therapy on Platelet Counts in Patients with Inflammatory Bowel Disease-Associated Anemia  

PubMed Central

Background and Aims Secondary thrombocytosis is a clinical feature of unknown significance. In inflammatory bowel disease (IBD), thrombocytosis is considered a marker of active disease; however, iron deficiency itself may trigger platelet generation. In this study we tested the effect of iron therapy on platelet counts in patients with IBD-associated anemia. Methods Platelet counts were analyzed before and after iron therapy from four prospective clinical trials. Further, changes in hemoglobin, transferrin saturation, ferritin, C-reactive protein, and leukocyte counts, before and after iron therapy were compared. In a subgroup the effect of erythropoietin treatment was tested. The results were confirmed in a large independent cohort (FERGIcor). Results A total of 308 patient records were available for the initial analysis. A dose-depended drop in platelet counts (mean 425 G/L to 320 G/L; p<0.001) was found regardless of the type of iron preparation (iron sulphate, iron sucrose, or ferric carboxymaltose). Concomitant erythropoietin therapy as well as parameters of inflammation (leukocyte counts, C-reactive protein) had no effect on the change in platelet counts. This effect of iron therapy on platelets was confirmed in the FERGIcor study cohort (n=448, mean platelet counts before iron therapy: 383 G/L, after: 310 G/L, p<0.001). Conclusion Iron therapy normalizes elevated platelet counts in patients with IBD-associated anemia. Thus, iron deficiency is an important pathogenetic mechanism of secondary thrombocytosis in IBD. PMID:22506024

Kulnigg-Dabsch, Stefanie; Evstatiev, Rayko; Dejaco, Clemens; Gasche, Christoph



Childhood Obesity and Outcomes after Bone Marrow Transplantation for Patients with Severe Aplastic Anemia  

PubMed Central

The prevalence of obesity in the pediatric population has increased in the last two decades and represents a serious health concern with potential impact on transplantation outcomes. We studied the effect of weight, by age-adjusted body mass index (BMI) percentiles on 1,281 pediatric patients (ages 2-19) with severe aplastic anemia transplanted between 1990 and 2005. The study population was divided into five weight groups: underweight, risk of underweight, normal BMI range, risk of overweight and overweight, according to age-adjusted BMI percentiles. Cox proportional hazards regression models for survival and acute graft-versus-host disease (aGVHD), performed using weight groups as the main effect and the normal BMI range (26-75th percentile) as the baseline comparison, found higher mortality among overweight children (>95th percentile adjusted for age). Weight at transplantation did not increase the adjusted risk of grades III-IV aGVHD. One- and two-year overall survival rates were 60% and 59% for overweight children, compared to rates greater than 70% in children with lower BMI at both time points (p<0.001). Other significant factors associated with survival included race and region, donor type, conditioning regimens in related donor transplants, performance score and year of transplant. In conclusion, overweight children with aplastic anemia have worse outcomes after HCT. The impact of obesity on survival outcomes in children should be discussed during pre-transplant counseling. PMID:20817111

Barker, Collin C.; Agovi, Manza-A.; Logan, Brent; Lazarus, Hillard M.; Ballen, Karen K.; Gupta, Vikas; Hale, Gregory A.; Frangoul, Haydar; Ho, Vincent; Rizzo, J. Douglas; Pasquini, Marcelo C.



Interstitial lung disease associated with Equine Infectious Anemia Virus infection in horses.  


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

Bolfa, Pompei; Nolf, Marie; Cadoré, Jean-Luc; Catoi, Cornel; Archer, Fabienne; Dolmazon, Christine; Mornex, Jean-François; Leroux, Caroline



Interstitial lung disease associated with Equine Infectious Anemia Virus infection in horses  

PubMed Central

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



Hematological Indices for Differential Diagnosis of Beta Thalassemia Trait and Iron Deficiency Anemia  

PubMed Central

Background. The two most frequent types of microcytic anemia are beta thalassemia trait (?-TT) and iron deficiency anemia (IDA). We retrospectively evaluated the reliability of various indices for differential diagnosis of microcytosis and ?-TT in the same patient groups. Methods. A total of 290 carefully selected children aged 1.1–16 years were evaluated. We calculated 12 discrimination indices in all patients with hemoglobin (Hb) values of 8.7–11.4?g/dL. None of the subjects had a combined case of IDA and ?-TT. All children with IDA received oral iron for 16 weeks, and HbA2 screening was performed after iron therapy. The patient groups were evaluated according to red blood cell (RBC) count; red blood distribution width index; the Mentzer, Shine and Lal, England and Fraser, Srivastava and Bevington, Green and King, Ricerca, Sirdah, and Ehsani indices; mean density of hemoglobin/liter of blood; and mean cell density of hemoglobin. Results. The Mentzer index was the most reliable index, as it had the highest sensitivity (98.7%), specificity (82.3%), and Youden's index (81%) for detecting ?-TT; this was followed by the Ehsani index (94.8%, 73.5%, and 68.3%, resp.) and RBC count (94.8%, 70.5%, and 65.3%). Conclusion. The Mentzer index provided the highest reliabilities for differentiating ?-TT from IDA. PMID:24818016

Vehapoglu, Aysel; Ozgurhan, Gamze; Demir, Aysegul Dogan; Uzuner, Selcuk; Nursoy, Mustafa Atilla; Turkmen, Serdar; Kacan, Arzu



A critical role for mTORC1 in erythropoiesis and anemia  

PubMed Central

Red blood cells (RBC) must coordinate their rate of growth and proliferation with the availability of nutrients, such as iron, but the signaling mechanisms that link the nutritional state to RBC growth are incompletely understood. We performed a screen for cell types that have high levels of signaling through mTORC1, a protein kinase that couples nutrient availability to cell growth. This screen revealed that reticulocytes show high levels of phosphorylated ribosomal protein S6, a downstream target of mTORC1. We found that mTORC1 activity in RBCs is regulated by dietary iron and that genetic activation or inhibition of mTORC1 results in macrocytic or microcytic anemia, respectively. Finally, ATP competitive mTOR inhibitors reduced RBC proliferation and were lethal after treatment with phenylhydrazine, an inducer of hemolysis. These results identify the mTORC1 pathway as a critical regulator of RBC growth and proliferation and establish that perturbations in this pathway result in anemia. DOI: PMID:25201874

Knight, Zachary A; Schmidt, Sarah F; Birsoy, Kivanc; Tan, Keith; Friedman, Jeffrey M



Repair pathways independent of the Fanconi anemia nuclear core complex play a predominant role in mitigating formaldehyde-induced DNA damage  

Microsoft Academic Search

The role of the Fanconi anemia (FA) repair pathway for DNA damage induced by formaldehyde was examined in the work described here. The following cell types were used: mouse embryonic fibroblast cell lines FANCA?\\/?, FANCC?\\/?, FANCA?\\/?C?\\/?, FANCD2?\\/? and their parental cells, the Chinese hamster cell lines FANCD1 mutant (mt), FANCGmt, their revertant cells, and the corresponding wild-type (wt) cells. Cell

Taichi Noda; Akihisa Takahashi; Natsuko Kondo; Eiichiro Mori; Noritomo Okamoto; Yosuke Nakagawa; Ken Ohnishi; Ma?gorzata Z. Zdzienicka; Larry H. Thompson; Thomas Helleday; Hideo Asada; Takeo Ohnishi



Local concepts of anemia-related illnesses and public health implications in the Taabo health demographic surveillance system, C?te d'Ivoire  

PubMed Central

Background A 14-month prospective longitudinal study conducted in the Taabo health demographic surveillance system (HDSS), south-central Côte d’Ivoire, revealed high prevalence of anemia in different population groups in three types of settings (i.e., small town, village, and hamlet). Demographic parameters and several variables related to parasitic infections, micronutrient status, and inflammation were significantly associated with higher odds of anemia. However, cultural concepts and knowledge of various anemia-related illnesses and their relation with people’s behaviors have not been investigated. Methods Sixteen focus group discussions and six key informant interviews were performed with village authorities, health workers, and traditional healers. Questionnaires were administrated to 200 school-aged children and 115 young women. Of these individuals, 206 participated in the preceding longitudinal study, whereas the remaining 109 people were not exposed to prior research, but had similar age and sex profiles. Mean prominence of participants’ responses was compared between groups of participants and across study settings. Results Local concepts of anemia-related illnesses referred to its perceived causes based on two logical frameworks – biomedical and sociocultural – although a clear distinction was often blurred. We found few differences in knowledge, beliefs, and behaviors across study settings and between participants who were exposed to prior research and newly recruited ones. Malaria und nutritional issues as understood and managed by the population differed from definitions and recommendations provided by the health system. Malaria was not acknowledged as an exclusive mosquito-transmitted disease and participants referred to the quantity, rather than the quality, of food when talking about nutritional issues. Conclusions Local concepts and ideas about anemia have public health implications, inasmuch as they are related to people’s attitudes, risk-related and help-seeking behaviors, which in turn might affect their health status. Local terminology and beliefs about anemia and malaria should be carefully considered when developing health intervention and education programs. The similarity in knowledge about anemia-related illnesses and associated behaviors, regardless of study setting and prior exposure to research, suggests that a uniform communication strategy may be used to develop education programs and awareness campaigns aimed at the prevention and control of anemia in south-central Côte d’Ivoire. PMID:24499516



AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency.  


AMP deaminase (AMPD) catalyzes AMP to IMP and plays an important role in energy charge and nucleotide metabolism. Human AMPD3 deficiency is a type of erythrocyte-specific enzyme deficiency found in individuals without clinical symptoms, although an increased level of ATP in erythrocytes has been reported. To better understand the physiological and pathological roles of AMPD3 deficiency, we established a line of AMPD3-deficient [A3(-/-)] mice. No AMPD activity and a high level of ATP were observed in erythrocytes of these mice, similar to human RBC-AMPD3 deficiency, while other characteristics were unremarkable. Next, we created AMPD3 and pyruvate kinase (PK) double-deficient [PKA(-/-,-/-)] mice by mating A3(-/-) mice with CBA-Pk-1slc/Pk-1slc mice [PK(-/-)], a spontaneous PK-deficient strain showing hemolytic anemia. In PKA(-/-,-/-) mice, the level of ATP in red blood cells was increased 1.5 times as compared to PK(-/-) mice, although hemolytic anemia in those animals was not improved. In addition, we observed osmotic fragility of erythrocytes in A3(-/-) mice under fasting conditions. In contrast, the ATP level in erythrocytes was elevated in A3(-/-) mice as compared to the control. In conclusion, AMPD3 deficiency increases the level of ATP in erythrocytes, but does not improve anemia due to PK deficiency and leads to erythrocyte dysfunction. PMID:23078545

Cheng, Jidong; Morisaki, Hiroko; Toyama, Keiko; Ikawa, Masahito; Okabe, Masaru; Morisaki, Takayuki



Cancer-related anemia: its causes and characteristics.  


Under normal circumstances, the circulating red blood cell mass is maintained at a level that is constant in each individual, although that level may vary by more than 10% among individuals of the same age and gender. At normal ambient oxygen tension, two factors determine the circulating red blood cell mass: red blood cell life span, which is finite and in humans approximates 120 days; and the rate of effective red blood cell production. To maintain a constant red blood cell mass, therefore, approximately 20 mL of red blood cells must be produced each day to replace those red blood cells lost from the circulation through senescence. Anemia, which may be defined functionally as lack of sufficient red blood cells to maintain adequate tissue oxygenation, develops when the demand for new red blood cells exceeds the capacity of the bone marrow to produce them. This may be due to excessive red blood cell destruction, impaired red blood cell production, bleeding, or any combination of these. Acquired anemia is always a consequence of another disorder, which must be identified to ensure that the corrective therapy is appropriate. In patients with solid tumors, multiple mechanisms for causing anemia have been identified: blood loss that is either intrinsic or iatrogenic; nutritional deficiencies involving primarily iron or folic acid; hemolysis (autoimmune, traumatic, or drug-induced); bone marrow failure due to tumor encroachment, myelofibrosis, or marrow necrosis; infection; inflammation; or simply the presence of a cancer elsewhere in the body. The three noted causes of marrow failure share a common denominator: impaired production of erythropoietin. For any degree of anemia, a patient with cancer produces much less erythropoietin than expected and, therefore, cannot compensate for impaired red blood cell production. Inflammation or infection can exacerbate this situation. Indeed, anemia in patients with cancer appears to behave much like that in patients with chronic renal failure who become anemic because of the inability of the kidneys to produce erythropoietin adequately. The cause of impaired erythropoietin production in patients with cancer who have anemia is not entirely understood, but may be due in part to the production of inflammatory cytokines in response to the tumor. Such cytokines also would be expected to blunt the ability of the bone marrow to respond to the available circulating erythropoietin.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:8202724

Spivak, J L



Plasma hepcidin levels and anemia in old age. The Leiden 85-Plus Study  

PubMed Central

Hepcidin, an important regulator of iron homeostasis, is suggested to be causally related to anemia of inflammation. The aim of this study was to explore the role of plasma hepcidin in anemia among older persons from the general population. The Leiden 85-Plus Study is a population-based study of 85-year olds in Leiden, the Netherlands. Eighty-five-year old inhabitants of Leiden were enrolled between September 1997 and September 1999. At the age of 86, plasma hepcidin was determined with time of flight mass spectrometry in 490 participants [160 (32.7%) male, 114 (23.3%) with anemia]. Anemia was defined according to criteria of the World Health Organization (hemoglobin level <13 g/dL for men and hemoglobin <12 g/dL for women). The median plasma hepcidin level was 3.0 nM [interquartile range (IQR) 1.8–4.9]. We found strong correlations between plasma hepcidin and body iron status, C-reactive protein and erythropoietin levels. Significantly higher hepcidin levels were found in participants with anemia of inflammation (P<0.01), in participants with anemia of kidney disease (P=0.01), and in participants with unexplained anemia (P=0.01) than in participants without anemia. Participants with iron-deficiency anemia had significantly lower plasma hepcidin levels than participants without anemia (P<0.01). In conclusion, older persons with anemia of inflammation have higher hepcidin levels than their counterparts without anemia. The potential clinical value of hepcidin in future diagnostic algorithms for anemia has to be explored. PMID:23065507

den Elzen, Wendy P.J.; de Craen, Anton J.M.; Wiegerinck, Erwin T.; Westendorp, Rudi G.J.; Swinkels, Dorine W.; Gussekloo, Jacobijn



Plasma hepcidin levels and anemia in old age. The Leiden 85-Plus Study.  


Hepcidin, an important regulator of iron homeostasis, is suggested to be causally related to anemia of inflammation. The aim of this study was to explore the role of plasma hepcidin in anemia among older persons from the general population. The Leiden 85-Plus Study is a population-based study of 85-year olds in Leiden, the Netherlands. Eighty-five-year old inhabitants of Leiden were enrolled between September 1997 and September 1999. At the age of 86, plasma hepcidin was determined with time of flight mass spectrometry in 490 participants [160 (32.7%) male, 114 (23.3%) with anemia]. Anemia was defined according to criteria of the World Health Organization (hemoglobin level <13 g/dL for men and hemoglobin <12 g/dL for women). The median plasma hepcidin level was 3.0 nM [interquartile range (IQR) 1.8-4.9]. We found strong correlations between plasma hepcidin and body iron status, C-reactive protein and erythropoietin levels. Significantly higher hepcidin levels were found in participants with anemia of inflammation (P<0.01), in participants with anemia of kidney disease (P=0.01), and in participants with unexplained anemia (P=0.01) than in participants without anemia. Participants with iron-deficiency anemia had significantly lower plasma hepcidin levels than participants without anemia (P<0.01). In conclusion, older persons with anemia of inflammation have higher hepcidin levels than their counterparts without anemia. The potential clinical value of hepcidin in future diagnostic algorithms for anemia has to be explored. PMID:23065507

den Elzen, Wendy P J; de Craen, Anton J M; Wiegerinck, Erwin T; Westendorp, Rudi G J; Swinkels, Dorine W; Gussekloo, Jacobijn



Fanconi anemia and the cell cycle: new perspectives on aneuploidy  

PubMed Central

Fanconi anemia (FA) is a complex heterogenic disorder of genomic instability, bone marrow failure, cancer predisposition, and congenital malformations. The FA signaling network orchestrates the DNA damage recognition and repair in interphase as well as proper execution of mitosis. Loss of FA signaling causes chromosome instability by weakening the spindle assembly checkpoint, disrupting centrosome maintenance, disturbing resolution of ultrafine anaphase bridges, and dysregulating cytokinesis. Thus, the FA genes function as guardians of genome stability throughout the cell cycle. This review discusses recent advances in diagnosis and clinical management of Fanconi anemia and presents the new insights into the origins of genomic instability in FA. These new discoveries may facilitate the development of rational therapeutic strategies for FA and for FA-deficient malignancies in the general population. PMID:24765528



Abnormal erythropoiesis and the pathophysiology of chronic anemia.  


Erythropoiesis, the bone marrow production of erythrocytes by the proliferation and differentiation of hematopoietic cells, replaces the daily loss of 1% of circulating erythrocytes that are senescent. This daily output increases dramatically with hemolysis or hemorrhage. When erythrocyte production rate of erythrocytes is less than the rate of loss, chronic anemia develops. Normal erythropoiesis and specific abnormalities of erythropoiesis that cause chronic anemia are considered during three periods of differentiation: a) multilineage and pre-erythropoietin-dependent hematopoietic progenitors, b) erythropoietin-dependent progenitor cells, and c) terminally differentiating erythroblasts. These erythropoietic abnormalities are discussed in terms of their pathophysiological effects on the bone marrow cells and the resultant changes that can be detected in the peripheral blood using a clinical laboratory test, the complete blood count. PMID:24560123

Koury, Mark J



Change of thyroid function in 50 patients with aplastic anemia.  


The serum thyroid hormones were measured in 50 patients with aplastic anemia (AA). Serum T3 and T4 levels were significantly lower, especially in the elderly and in those in chronic AA, while they were normal in acute AA. There was no obvious difference with thyroid-stimulating hormone (TSH). It was suggested that the result may be caused by euthyroid sick syndrome, a protective adaptation that helps in classifying and evaluating the prognosis of the disease. PMID:1553959

Cao, Q; Liu, J



Molecular pathogenesis and clinical management of Fanconi anemia  

PubMed Central

Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the clinical features, the diagnostic criteria, and the current and future therapies of FA and describe the current understanding of the molecular basis of the disease. PMID:23114602

Kee, Younghoon; D'Andrea, Alan D.



Aplastic anemia and membranous nephropathy induced by intravenous mercury  

PubMed Central

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

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



MOLECULAR MEDICINE: "Sickle Cell Anemia, a Molecular Disease"  

NSDL National Science Digital Library

Access to the article is free, however registration and sign-in are required. Fifty years ago this month, Linus Pauling published his seminal Science paper describing the difference in electrophoretic mobilities between normal hemoglobin and that from patients with sickle cell anemia. In so doing he founded the field of molecular medicine, as Strasser explains in a lively Perspective that looks at the discovery and its aftermath.

Bruno J. Strasser (University of Geneva;Louis-Jeantet Institute for the History of Medicine)



[Iron deficiency without anemia: where are we in 2012?].  


Should we treat iron deficiency without anemia? The simple fact that the question can be formulated already leads to controversies. During the past years, the development of a new formulation of intravenous iron has helped fuel the controversy. What is the situation in 2012? This article gives a practical point of view on the actual situation and provides indications on the use of new intravenous medications. PMID:23240240

Favrat, B; Waldvogel Abramowski, S; Vaucher, P; Cornuz, J; Tissot, J-D



Establishment of permanent chimerism in a lactate dehydrogenase-deficient mouse mutant with hemolytic anemia  

SciTech Connect

Pluripotent hemopoietic stem cell function was investigated in the homozygous muscle type lactate dehydrogenase (LDH-A) mutant mouse using bone marrow transplantation experiments. Hemopoietic tissues of LDH-A mutants showed a marked decreased in enzyme activity that was associated with severe hemolytic anemia. This condition proved to be transplantable into wild type mice (+/+) through total body irradiation (TBI) at a lethal dose of 8.0 Gy followed by engraftment of mutant bone marrow cells. Since the mutants are extremely radiosensitive (lethal dose50/30 4.4 Gy vs 7.3 Gy in +/+ mice), 8.0-Gy TBI followed by injection of even high numbers of normal bone marrow cells did not prevent death within 5-6 days. After a nonlethal dose of 4.0 Gy and grafting of normal bone marrow cells, a transient chimerism showing peripheral blood characteristics of the wild type was produced that returned to the mutant condition within 12 weeks. The transfusion of wild type red blood cells prior to and following 8.0-Gy TBI and reconstitution with wild type bone marrow cells prevented the early death of the mutants and permanent chimerism was achieved. The chimeras showed all hematological parameters of wild type mice, and radiosensitivity returned to normal. It is concluded that the mutant pluripotent stem cells are functionally comparable to normal stem cells, emphasizing the significance of this mouse model for studies of stem cell regulation.

Datta, T.; Doermer, P.



Phytomedicines and Nutraceuticals: Alternative Therapeutics for Sickle Cell Anemia  

PubMed Central

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

Imaga, Ngozi Awa



Neocytolysis contributes to the anemia of renal disease  

NASA Technical Reports Server (NTRS)

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.

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



Neocytolysis Contributes to the Anemia of Renal Disease  

NASA Technical Reports Server (NTRS)

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.

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



The role of TMPRSS6/matriptase-2 in iron regulation and anemia  

PubMed Central

Matriptase-2, encoded by the TMPRSS6 gene, is a member of the type II transmembrane serine protease family. Matriptase-2 has structural and enzymatic similarities to matriptase-1, which has been implicated in cancer progression. Matriptase-2 was later established to be essential in iron homeostasis based on the phenotypes of iron-refractory iron deficiency anemia identified in mouse models as well as in human patients with TMPRSS6 mutations. TMPRSS6 is expressed mainly in the liver and negatively regulates the production of hepcidin, the systemic iron regulatory hormone. This review focuses on the current understanding of matriptase-2 biochemistry, and its role in iron metabolism and cancer progression. In light of recent investigations, the function of matriptase-2 in hepcidin regulation, how it is being regulated, as well as the therapeutic potential of matriptase-2 are also discussed. PMID:24966834

Wang, Chia-Yu; Meynard, Delphine; Lin, Herbert Y.



DNA interstrand cross-link repair: understanding role of Fanconi anemia pathway and therapeutic implications.  


Interstrand cross-links (ICLs) are extremely toxic DNA lesions that prevent DNA double-helix separation due to the irreversible covalent linkage binding of some agents on DNA strands. Agents that induce these ICLs are thus widely used as chemotherapeutic drugs but may also lead to tumor growth. Fanconi anemia (FA) is a rare genetic disorder that leads to ICL sensitivity. This review provides update on current understanding of the role of FA proteins in repairing ICLs at various stages of cell cycle. We also discuss link between DNA cross-link genotoxicity caused by aldehydes in FA pathway. Besides this, we summarize various ICL agents that act as drugs to treat different types of tumors and highlight strategies for modulating ICL sensitivity for therapeutic interventions that may be helpful in controlling cancer and life-threatening disease, FA. PMID:23859405

Shukla, Pallavi; Solanki, Avani; Ghosh, Kanjaksha; Vundinti, Babu Rao



Expanded roles of the Fanconi anemia pathway in preserving genomic stability  

PubMed Central

Studying rare human genetic diseases often leads to a better understanding of normal cellular functions. Fanconi anemia (FA), for example, has elucidated a novel DNA repair mechanism required for maintaining genomic stability and preventing cancer. The FA pathway, an essential tumor-suppressive pathway, is required for protecting the human genome from a specific type of DNA damage; namely, DNA interstrand cross-links (ICLs). In this review, we discuss the recent progress in the study of the FA pathway, such as the identification of new FANCM-binding partners and the identification of RAD51C and FAN1 (Fanconi-associated nuclease 1) as new FA pathway-related proteins. We also focus on the role of the FA pathway as a potential regulator of DNA repair choices in response to double-strand breaks, and its novel functions during the mitotic phase of the cell cycle. PMID:20713514

Kee, Younghoon; D'Andrea, Alan D.



Decreased Superoxide Dismutase Activity of Erythrocytes and Leukocytes in Fanconi’s Anemia  

Microsoft Academic Search

Superoxide dismutase (SOD) activity was determined in the erythrocytes and leukocytes of 5 patients with Fanconi’s anemia (FA) and 1 with atypical Fanconi’s anemia without any hematological disorder. SOD activity was decreased in the blood cells of the patients with Fanconi’s anemia, but was normal in the atypical patient. The influence of SOD on the chromosome aberrations and hematological disorder

Kazunori Yoshimitsu; Yohnosuke Kobayashi; Tomofusa Usui



Enhanced Erythrocyte Apoptosis in Sickle Cell Anemia, Thalassemia and Glucose6Phosphate Dehydrogenase Deficiency  

Microsoft Academic Search

Erythrocyte diseases such as sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency decrease the erythrocyte life span, an effect contributing to anemia. Most recently, erythro-cytes have been shown to undergo apoptosis upon increase of cytosolic Ca2+ activity. The present study has been performed to explore whether sickle cell anemia, thalassemia and glucose-6-phosphate dehydrogenase deficiency enhance the sensitivity of erythrocytes to

Karl Lang; Benjamin Roll; Svetlana Myssina; Markus Schittenhelm; Hans-Gerhard Scheel-Walter; Lothar Kanz; Jasmin Fritz; Florian Lang; Stephan Huber; Thomas Wieder



Influence of Severity of Anemia on Clinical Findings in Infants with Sickle Cell Anemia: Analyses from the BABY HUG Study  

PubMed Central

Background Clinical complications of sickle cell anemia begin in infancy. BABY HUG (, NCT00006400) was a NHLBI-NICHD supported randomized phase III placebo-controlled trial of hydroxyurea (HU) in infants (recruited at 9–18 months) unselected for clinical severity with sickle cell anemia. This secondary analysis of data from BABY HUG examines the influence of anemia on the incidence of sickle cell related complications, and the impact of hydroxyurea therapy in altering these events by comparing children with lower (<25th percentile) and higher (>75th percentile) hemoglobin concentrations at study entry. Procedure Infants were categorized by: 1) age-adjusted hemoglobin quartiles as determined by higher (Hi) and lower (Lo) hemoglobin concentrations at study entry (9 to12 months old: <8.0 gm/dL and >10.0gm/dL; 12 to 18 months old: <8.1 gm/dL and >9.9gm/dL) and 2) treatment arm (hydroxyurea or placebo). Four subgroups were created: placebo (PL) LoHb (n=25), PL HiHb (n=27), hydroxyurea (HU) LoHb (n=21), and HU HiHb (n=18). The primary and secondary endpoints of BABY HUG were analyzed by subgroup. Results Infants with lower hemoglobin at baseline were more likely to have a higher incidence of clinical events (acute chest syndrome, pain crisis, fever) as well as higher TCD velocities and lower neuropsychological scores at study exit. Hydroxyurea reduced the incidence of these findings. Conclusion Infants with more severe anemia are at risk for increased clinical events that may be prevented by early initiation of hydroxyurea. PMID:22190441

Lebensburger, Jeffrey D.; Miller, Scott T.; Howard, Thomas H.; Casella, James F.; Brown, R. Clark; Lu, Ming; Iyer, Rathi V.; Sarnaik, Sharada; Rogers, Zora R.; Wang, Winfred C.



Anesthesia for a patient with Fanconi anemia for developmental dislocation of the hip: a case report.  


Fanconi anemia is a rare autosomal recessive inherited bone marrow failure syndrome with congenital and hematological abnormalities. Literature regarding the anesthetic management in these patients is limited. A management of a developmental dislocation of the hip was described in a patient with fanconi anemia. Because of the heterogeneous nature, a patient with fanconi anemia should be established thorough preoperative evaluation in order to diagnose on clinical features. In conclusion, we preferred caudal anesthesia in this patient with fanconi anemia without thrombocytopenia, because of avoiding from N2O, reducing amount of anesthetic, existing microcephaly, hypothyroidism and elevated liver enzymes, providing postoperative analgesia, and reducing amount of analgesic used postoperatively. PMID:24907882

Dogan, Zafer; Yildiz, Huseyin; Coskuner, Ismail; Uzel, Murat; Garipardic, Mesut



Prevalence of Anemia in Children with Congestive Heart Failure due to Dilated Cardiomyopathy  

PubMed Central

Introduction. Anemia is prevalent in adult heart failure patients and appears to be an independent risk factor for morbidity and mortality. The purpose of this work is to determine the prevalence of anemia in children with heart failure from dilated cardiomyopathy (DCM) and to evaluate its influence on morbidity and mortality. Methods. A homogenous group of 58 children with congestive heart failure from DCM was evaluated for heart failure symptoms, appearance of anemia, hospitalization, age of first clinical appearance, necessity of transfusion, and death during medical attendance. Anemic and nonanemic patients were analyzed for differences in age distribution, morbidity, and mortality. Results. Anemia was present in 64% of DCM patients. Hospitalization secondary to heart failure was significantly elevated in heart failure patients with anemia (mean 35.1 ± 40.5 versus 9.97 ± 9.65 days per year, P < 0.05). However, mortality was not elevated. Significant relations of age and prevalence of anemia or age and severity of anemia did not appear. Conclusion. Anemia is prevalent in pediatric patients with congestive heart failure from DCM and appears in all age classes. Hospitalization as a surrogate of morbidity is elevated in heart failure patients developing anemia, but mortality risk did not increase. PMID:23213342

Mueller, Goetz Christoph; Schlueter, Emmy Lou; Arndt, Florian; Dodge-Khatami, Ali; Weil, Jochen; Mir, Thomas S.



Markers of Bone Turnover Are Associated With Growth and Development in Young Subjects With Sickle Cell Anemia  

PubMed Central

Children with sickle cell anemia (SCA) have low bone mass though bone turnover has not been well described. In this study, growth and pubertal development were assessed twice, 1 year apart, in 80 young subjects with type-SS SCA, while whole body bone mineral content (BMC) and density where measured in a subset (n = 46). Markers of bone turnover were measured at the second visit. Bone formation (alkaline phosphatase) was elevated, whereas bone resorption (deoxypryidinoline) was decreased compared to published data in healthy children. Markers of bone turnover correlated with growth velocity and pubertal development but not with changes in bone mass. PMID:17243130

Fung, Ellen B.; Kawchak, Deborah A.; Zemel, Babette S.; Rovner, Alisha J.; Ohene-Frempong, Kwaku; Stallings, Virginia A.



Prevalence of high blood pressure, heart disease, thalassemia, sickle-cell anemia, and iron-deficiency anemia among the UAE adolescent population.  


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

Barakat-Haddad, Caroline



Real-time PCR Demonstrates Ancylostoma duodenale Is a Key Factor in the Etiology of Severe Anemia and Iron Deficiency in Malawian Pre-school Children  

PubMed Central

Background Hookworm infections are an important cause of (severe) anemia and iron deficiency in children in the tropics. Type of hookworm species (Ancylostoma duodenale or Necator americanus) and infection load are considered associated with disease burden, although these parameters are rarely assessed due to limitations of currently used diagnostic methods. Using multiplex real-time PCR, we evaluated hookworm species-specific prevalence, infection load and their contribution towards severe anemia and iron deficiency in pre-school children in Malawi. Methodology and Findings A. duodenale and N. americanus DNA loads were determined in 830 fecal samples of pre-school children participating in a case control study investigating severe anemia. Using multiplex real-time PCR, hookworm infections were found in 34.1% of the severely anemic cases and in 27.0% of the non-severely anemic controls (p<0.05) whereas a 5.6% hookworm prevalence was detected by microscopy. Prevalence of A. duodenale and N. americanus was 26.1% and 4.9% respectively. Moderate and high load A. duodenale infections were positively associated with severe anemia (adjusted odds ratio: 2.49 (95%CI 1.16–5.33) and 9.04 (95%CI 2.52–32.47) respectively). Iron deficiency (assessed through bone marrow examination) was positively associated with intensity of A. duodenale infection (adjusted odds ratio: 3.63 (95%CI 1.18–11.20); 16.98 (95%CI 3.88–74.35) and 44.91 (95%CI 5.23–385.77) for low, moderate and high load respectively). Conclusions/Significance This is the first report assessing the association of hookworm load and species differentiation with severe anemia and bone marrow iron deficiency. By revealing a much higher than expected prevalence of A. duodenale and its significant and load-dependent association with severe anemia and iron deficiency in pre-school children in Malawi, we demonstrated the need for quantitative and species-specific screening of hookworm infections. Multiplex real-time PCR is a powerful diagnostic tool for public health research to combat (severe) anemia and iron deficiency in children living in resource poor settings. PMID:22514750

Jonker, Femkje A. M.; Calis, Job C. J.; Phiri, Kamija; Brienen, Eric A. T.; Khoffi, Harriet; Brabin, Bernard J.; Verweij, Jaco J.; van Hensbroek, Michael Boele; van Lieshout, Lisette




E-print Network

and culturally. A lack of contextual research has inhibited understanding of why anemia persists despite being easily treatable. This dissertation examines the experience of anemia in the Poqomchi’ Maya community of Onquilha’, located above a coffee plantation...

Herynk, James William



The Fanconi Anemia Pathway: Repairing the Link Between DNA Damage and Squamous Cell Carcinoma  

PubMed Central

Fanconi anemia (FA) is a rare inherited recessive disease caused by mutations in one of fifteen genes known to encode FA pathway components. In response to DNA damage, nuclear FA proteins associate into high molecular weight complexes through a cascade of post-translational modifications and physical interactions, followed by the repair of damaged DNA. Hematopoietic cells are particularly sensitive to the loss of these interactions, and bone marrow failure occurs almost universally in FA patients. FA as a disease is further characterized by cancer susceptibility, which highlights the importance of the FA pathway in tumor suppression, and will be the focus of this review. Acute myeloid leukemia is the most common cancer type, often subsequent to bone marrow failure. However, FA patients are also at an extreme risk of squamous cell carcinoma (SCC) of the head and neck and gynecological tract, with an even greater incidence in those individuals who have received a bone marrow transplant and recovered from hematopoietic disease. FA tumor suppression in hematopoietic versus epithelial compartments could be mechanistically similar or distinct. Definition of compartment specific FA activities is now critical to assess the effects of today’s bone marrow failure treatments on tomorrow’s solid tumor development. It is our hope that current therapies can then be optimized to decrease the risk of malignant transformation in both hematopoietic and epithelial cells. Here we review our current understanding of the mechanisms of action of the Fanconi anemia pathway as it contributes to stress responses, DNA repair and squamous cell carcinoma susceptibility. PMID:23333482

Romick-Rosendale, Lindsey E.; Lui, Vivian W. Y.; Grandis, Jennifer R.; Wells, Susanne I.



Iron deficiency and iron deficiency anemia in women.  


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

Coad, Jane; Pedley, Kevin



Chronic kidney disease, anemia, and incident stroke in a middle-aged, community-based population: The ARIC Study  

Microsoft Academic Search

Chronic kidney disease, anemia, and incident stroke in a middle-aged, community-based population: The ARIC Study.BackgroundChronic kidney disease (CKD) has been linked to higher stroke risk. Anemia is a common consequence of CKD, and recent evidence suggests anemia may increase risk of cardiovascular events. The combined effect of CKD and anemia on stroke risk, however, has not been investigated thoroughly. We

Jerome L. Abramson; Claudine T. Jurkovitz; Viola Vaccarino; William S. Weintraub; William Mcclellan



Risk factors for outbreaks of infectious salmon anemia in farmed Atlantic salmon, Salmo salar  

Microsoft Academic Search

Infectious salmon anemia (ISA) is a viral disease occurring in farmed Atlantic salmon (Salmo salar) that is characterized by lethargy, anorexia, anemia and death. To control the disease in New Brunswick, Canada, 7.5 million fish from outbreak cages have been destroyed since 1997. Despite changes made by farmers, 2002 was the worst year ever for ISA losses in the region.We

Carol A. McClure; K. Larry Hammell; Ian R. Dohoo



Anemia in inflammatory bowel disease: a neglected issue with relevant effects.  


Anemia, a common complication associated with inflammatory bowel disease (IBD), is frequently overlooked in the management of IBD patients. Unfortunately, it represents one of the major causes of both decreased quality of life and increased hospital admissions among this population. Anemia in IBD is pathogenically complex, with several factors contributing to its development. While iron deficiency is the most common cause, vitamin B12 and folic acid deficiencies, along with the effects of pro-inflammatory cytokines, hemolysis, drug therapies, and myelosuppression, have also been identified as the underlying etiology in a number of patients. Each of these etiological factors thus needs to be identified and corrected in order to effectively manage anemia in IBD. Because the diagnosis of anemia in IBD often presents a challenge, combinations of several hematimetric and biochemical parameters should be used. Recent studies underscore the importance of determining the ferritin index and hepcidin levels in order to distinguish between iron deficiency anemia, anemia due to chronic disease, or mixed anemia in IBD patients. With regard to treatment, the newly introduced intravenous iron formulations have several advantages over orally-administered iron compounds in treating iron deficiency in IBD. In special situations, erythropoietin supplementation and biological therapies should be considered. In conclusion, the management of anemia is a complex aspect of treating IBD patients, one that significantly influences the prognosis of the disease. As a consequence, its correction should be considered a specific, first-line therapeutic goal in the management of these patients. PMID:24707137

Guagnozzi, Danila; Lucendo, Alfredo J



Pharmacological use of l-carnitine in uremic anemia: Has its full potential been exploited?  

Microsoft Academic Search

Anemia is one of the most frequent complications of kidney failure and a common cause of morbidity in dialysis patients. A number of clinical studies have suggested that l-carnitine (LC), a naturally occurring compound involved in bioenergetic processes, may alleviate the anemia of hemodialysis patients. Since LC deficiency is commonly present in dialysis patients, LC has been described as a

Mario Bonomini; Victor Zammit; Charles D. Pusey; Amedeo De Vecchi; Arduino Arduini



Anemia in inflammatory bowel disease: A neglected issue with relevant effects  

PubMed Central

Anemia, a common complication associated with inflammatory bowel disease (IBD), is frequently overlooked in the management of IBD patients. Unfortunately, it represents one of the major causes of both decreased quality of life and increased hospital admissions among this population. Anemia in IBD is pathogenically complex, with several factors contributing to its development. While iron deficiency is the most common cause, vitamin B12 and folic acid deficiencies, along with the effects of pro-inflammatory cytokines, hemolysis, drug therapies, and myelosuppression, have also been identified as the underlying etiology in a number of patients. Each of these etiological factors thus needs to be identified and corrected in order to effectively manage anemia in IBD. Because the diagnosis of anemia in IBD often presents a challenge, combinations of several hematimetric and biochemical parameters should be used. Recent studies underscore the importance of determining the ferritin index and hepcidin levels in order to distinguish between iron deficiency anemia, anemia due to chronic disease, or mixed anemia in IBD patients. With regard to treatment, the newly introduced intravenous iron formulations have several advantages over orally-administered iron compounds in treating iron deficiency in IBD. In special situations, erythropoietin supplementation and biological therapies should be considered. In conclusion, the management of anemia is a complex aspect of treating IBD patients, one that significantly influences the prognosis of the disease. As a consequence, its correction should be considered a specific, first-line therapeutic goal in the management of these patients. PMID:24707137

Guagnozzi, Danila; Lucendo, Alfredo J



Diagnosis of Iron Deficiency Anemia in the Elderly by Transferrin Receptor-Ferritin Index  

Microsoft Academic Search

Background: The diagnosis of iron deficiency anemia (IDA) in the elderly is difficult because of the preva- lence of chronic diseases, which can cause anemia with high ferritin levels, even in the presence of iron defi- ciency. Therefore, we studied the sensitivity and speci- ficity of a serum transferrin receptor assay, which is not affected by chronic diseases, in the

Ephraim Rimon; Shmuel Levy; Alexander Sapir; Gregorius Gelzer; Ronit Peled; David Ergas; Zev M. Sthoeger



Common Misconceptions in the Diagnosis and Management of Anemia in Inflammatory Bowel Disease  

Microsoft Academic Search

Anemia is the most common systemic complication of inflammatory bowel disease (IBD); so common that it is almost invariably not investigated and rarely treated. Several misconceptions are the reason for these clinical errors, and our goal will be to review them. The most common misconceptions are: anemia is uncommon in IBD; iron deficiency is also uncommon; just by treating the

Javier P. Gisbert; Fernando Gomollón



Early detection and the course of glomerular injury in patients with sickle cell anemia  

Microsoft Academic Search

Early detection and the course of glomerular injury in patients with sickle cell anemia. We performed a cross sectional analysis of glomerular function in 34 adult patients with sickle cell anemia (SSA). Patients were divided according to GFR and albumin excretion rate (AER): SSA controls (normal GFR and AER, N = 10), albuminuria (increased AER, but normal GFR, N =

Antonio Guasch; Millicent Cua; William E Mitch



Association of Chronic Kidney Disease and Anemia with Physical Capacity: The Heart and Soul Study  

Microsoft Academic Search

Chronic kidney disease (CKD) and anemia are com- mon conditions in the outpatient setting, but their independent and additive effects on physical capacity have not been well characterized. The association of CKD and anemia with self- reported physical function was evaluated and exercise capacity was measured in patients with coronary disease. A cross- sectional study of 954 outpatients enrolled in



A stochastic model for infectious salmon anemia (ISA) in Atlantic salmon farming  

E-print Network

A stochastic model for infectious salmon anemia (ISA) in Atlantic salmon farming Ida Scheel1 salmon anemia (ISA) is one of the main infectious diseases in Atlantic salmon farming with major, worldwide. We study the data covering salmon farming in Norway from 2002 to 2005 and propose a stochastic

Aldrin, Magne


Anemia impact and management: focus on patient needs and the use of erythropoietic agents  

Microsoft Academic Search

Anemia is a common complication associated with cancer and cancer treatment. As many as 50% to 60% of cancer patients will develop this condition. Fatigue is a major symptom of anemia and is a primary complaint in patients with cancer. Fatigue can be debilitating for patients, reducing their ability to work, decreasing physical and emotional well-being, and interfering with cognitive

Carsten Bokemeyer; Jan Foubert



Endogenous Erythropoietin Levels and Anemia in Long-Term Renal Transplant Recipients  

Microsoft Academic Search

Background\\/Aim: Although anemia is a common complication after renal transplantation (RT), data concerning endogenous erythropoietin (EPO) levels in long-term RT recipients are rare. The goal of this study was to evaluate the prevalence of anemia within 6 months to 5 years after RT and to assess the relationship between the serum concentrations of endogenous EPO, graft function and grade of

Pavel Horák; Jana Zahálková; Pavel Štrébl; Miroslav Hrubý



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

ERIC Educational Resources Information Center

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…

Howe, Eric Michael



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

ERIC Educational Resources Information Center

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…

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



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

ERIC Educational Resources Information Center

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

M'Cormack, Fredanna; Drolet, Judy



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

ERIC Educational Resources Information Center

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…

Fomon, Samuel J.


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

ERIC Educational Resources Information Center

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…

Calvin, Richmond


Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis  

PubMed Central

Microcytic anemia is the most commonly encountered anemia in general medical practice. Nutritional iron deficiency and ? thalassemia trait are the primary causes in pediatrics, whereas bleeding disorders and anemia of chronic disease are common in adulthood. Microcytic hypochromic anemia can result from a defect in globin genes, in heme synthesis, in iron availability or in iron acquisition by the erythroid precursors. These microcytic anemia can be sideroblastic or not, a trait which reflects the implications of different gene abnormalities. Iron is a trace element that may act as a redox component and therefore is integral to vital biological processes that require the transfer of electrons as in oxygen transport, oxidative phosphorylation, DNA biosynthesis and xenobiotic metabolism. However, it can also be pro-oxidant and to avoid its toxicity, iron metabolism is strictly controlled and failure of these control systems could induce iron overload or iron deficient anemia. During the past few years, several new discoveries mostly arising from human patients or mouse models have highlighted the implication of iron metabolism components in hereditary microcytic anemia, from intestinal absorption to its final inclusion into heme. In this paper we will review the new information available on the iron acquisition pathway by developing erythrocytes and its regulation, and we will consider only inherited microcytosis due to heme synthesis or to iron metabolism defects. This information could be useful in the diagnosis and classification of these microcytic anemias. PMID:19181781

Iolascon, Achille; De Falco, Luigia; Beaumont, Carole



Cancer-related anemia and recombinant human erythropoietin—an updated overview  

Microsoft Academic Search

For cancer patients, anemia can be a debilitating problem that negatively influences their overall quality of life and worsens their prognosis. The condition is caused either by the cancer itself or by cytotoxic treatment. Anemia is the primary indication for transfusion of red blood cells, but the development of recombinant human erythropoietins (epoetins) provides an alternative to red blood cell

Julia Bohlius; Olaf Weingart; Sven Trelle; Andreas Engert



Cytogenetic investigation in Iranian patients suspected with Fanconi anemia.  


We present our study on 318 patients suspected with Fanconi anemia (FA) referred to The Iranian Blood Transfusion Organization during the period of 4 years. Mitomycin C (MMC) was used as a DNA cross-linker to study chromosomal breakage. In total 61 positive cases were diagnosed cytogenetically. The ratio of women being affected was slightly higher than men. Comparison of several hematologic and clinical parameters in FA (MMC positive) and non-FA (MMC negative) patients showed no clinically significant differences. This study also indicates that this sort of test is very useful and essential for accurate diagnosis of patients with FA with or without congenital anomalies. PMID:17164655

Tootian, Sameeramis; Mahjoubi, Frouzandeh; Rahnama, Mitra; Hormozian, Fabyola; Mortezapour, Farzaneh; Razazian, Faegeh; Manoochehri, Farnoosh; Zamanian, Mahsa; Nasiri, Fatemeh; Soleymani, Saeedeh; Seyedmortaz, Ladan



Diamond Blackfan Anemia: Diagnosis, Treatment and Molecular Pathogenesis  

PubMed Central

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

Lipton, Jeffrey M.; Ellis, Steven R.



Trichoderma longibrachiatum infection in a pediatric patient with aplastic anemia.  

PubMed Central

Trichoderma longibrachiatum infection of the skin in an 11-year-old child with severe aplastic anemia and prolonged neutropenia is reported. The patient received systemic antifungal therapy and underwent bone marrow transplantation. To our knowledge, this is the first description of T. longibrachiatum infection in a pediatric patient. It also is the first case successfully treated with medical therapy. A review of the literature suggests that Trichoderma spp. are recognized as human pathogens with increasing frequency, particularly for immunocompromised patients, and should be considered in the differential diagnosis of fungal infections in the pediatric population. PMID:9003627

Munoz, F M; Demmler, G J; Travis, W R; Ogden, A K; Rossmann, S N; Rinaldi, M G



Why does the bone marrow fail in Fanconi anemia?  


The inherited bone marrow failure (BMF) syndromes are a rare and diverse group of genetic disorders that ultimately result in the loss of blood production. The molecular defects underlying many of these conditions have been elucidated, and great progress has been made toward understanding the normal function of these gene products. This review will focus on perhaps the most well-known and genetically heterogeneous BMF syndrome: Fanconi anemia. More specifically, this account will review the current state of our knowledge on why the bone marrow fails in this illness and what this might tell us about the maintenance of bone marrow function and hematopoiesis. PMID:24200684

Garaycoechea, Juan I; Patel, K J



Fanconi Anemia: A Signal Transduction and DNA Repair Pathway  

PubMed Central

Fanconi anemia (FA) is a fascinating, rare genetic disorder marked by congenital defects, bone marrow failure, and cancer susceptibility. Research in recent years has led to the elucidation of FA as a DNA repair disorder and involved multiple pathways as well as having wide applicability to common cancers, including breast, ovarian, and head and neck. This review will describe the clinical aspects of FA as well as the current state of its molecular pathophysiology. In particular, work from the Kupfer laboratory will be described that demonstrates how the FA pathway interacts with multiple DNA repair pathways, including the mismatch repair system and signal transduction pathway of the DNA damage response. PMID:24348213

Kupfer, Gary M.



Fanconi anemia and the repair of Watson and Crick crosslinks  

PubMed Central

Fanconi anemia (FA) proteins function in maintaining genomic stability. Their major role is in the repair of DNA interstrand crosslinks, which by virtue of covalently binding the Watson and Crick strands of DNA, impede replication and transcription. Inappropriately repaired interstrand crosslinks cause genomic instability leading to cancer; conversely, their toxicity makes them a powerful chemotherapeutic. Here, we discuss how FA proteins promote stem cell function, prevent tumorigenesis, stabilize replication forks, and inhibit improper repair. We also review the most recent advances identifying endogenous aldehydes as possible culprits in DNA damage that induces the phenotypes seen in the FA patients. PMID:23325218

Kottemann, Molly C.; Smogorzewska, Agata



Pleural solitary fibrous tumor complicated with autoimmune hemolytic anemia.  


We herein report a 74-year-old woman who presented with autoimmune hemolytic anemia (AIHA) associated with pleural solitary fibrous tumor (SFT). Her AIHA was initially treated with 1 mg/kg daily of oral prednisolone (PSL) for 2 months, which had a limited effect. However, after surgical tumor resection, the patient showed remarkable improvement of AIHA with normalizations of serum lactate dehydrogenase and bilirubin levels, and we were able to rapidly reduce the PSL dosage. This is the first description of a case of AIHA caused by SFT. PMID:25030571

Takahashi, Hiroshi; Ohkawara, Hiroshi; Ikeda, Kazuhiko; Harada-Shirado, Kayo; Furukawa, Miki; Sukegawa, Masumi; Shichishima-Nakamura, Akiko; Noji, Hideyoshi; Wakamatsu, Saho; Tasaki, Kazuhiro; Suzuki, Hiroyuki; Ogawa, Kazuei; Takeishi, Yasuchika



Seizure disorders and anemia associated with chronic borax intoxication  

PubMed Central

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

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



Reducing postburn injury anemia in a Jehovah's Witness patient.  


Anemia is a complication of severe burn injury. Burn patients who refuse blood transfusions, such as Jehovah's Witnesses, present difficult challenges, and treatment paradigms need to be altered to reduce blood loss and increase red cell restoration. In this report the authors present a case of a 36-year-old Jehovah's Witness who suffered a 35% TBSA burn injury. In addition to standard burn injury treatment, the authors attempted to reduce blood loss with a combination of intraoperative (tranexamic acid) and perioperative (erythropoietin, intravenous iron) strategies. PMID:24121804

Barsun, Alura; Sen, Soman; Palmieri, Tina L; Greenhalgh, David G



A young adult Jehovah's Witness with severe anemia.  


Two of the most ethically complex situations in pediatrics are those involving families whose religious beliefs preclude the provision of life-sustaining treatment and those involving young adults who have reached the age of legal majority and who face decisions about life-sustaining treatment. This month's "Ethics Rounds" presents a case in which these 2 complexities overlapped. An 18-year-old Jehovah's Witness with sickle cell disease has life-threatening anemia. She is going into heart failure. Her doctors urgently recommend blood transfusions. The young woman and her family adamantly refuse. Should the doctors let her die? Is there any alternative? PMID:23958767

Ukachi, Nnenna; Morrison, Wynne; Vanhorn, Samantha; Sundaram, Revathy; Lantos, John D



Pathology Case Study: Abdominal Distension, Weakness and Anemia  

NSDL National Science Digital Library

This is a case study presented by the University of Pittsburgh Department of Pathology in which a 75-year-old man presented with abdominal distension, weakness, and anemia following a partial gastrectomy three years prior. Visitors are given both the gross and microscopic description and genetic molecular analysis, including images, and are given the opportunity to diagnose the patient. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose disease. It is also a helpful site for educators to use to introduce or test student learning in gastrointestinal pathology.

Finkelstein, Sidney; Wang, Xiaoyan



Anemia in rural China's elementary schools: prevalence and correlates in Shaanxi province's poor counties.  


Despite growing wealth in China, a significant share of children across rural China still have no access to iron-rich foods, vitamins, and other micronutrients. Such poor diets may result in high incidences of nutritional problems, including anemia. The objective of the study was to increase understanding of the extent of anemia, and identify structural correlates of anemia in poor Shaanxi province's primary schools. The article shows that the overall anemia rate is 21.5 percent when using a blood hemoglobin cutoff of 115 g/L (39 percent with a cutoff of 120 g/L). We find that those students that are boarding at school and eat lunch away from home are more likely to be anemic. Children with anemia are found to have lower height for age (HAZ) scores. If this part of Shaanxi province is representative of all poor counties in China, these findings mean millions of children in poor rural China may be anemic. PMID:21888576

Luo, Renfu; Kleiman-Weiner, Max; Rozelle, Scott; Zhang, Linxiu; Liu, Chengfang; Sharbono, Brian; Shi, Yaojiang; Yue, Ai; Martorell, Reynaldo; Lee, Michelle



Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.  


Thiamine-responsive megaloblastic anemia (TRMA) is a rare disorder typically characterized by megaloblastic anemia, non-type I diabetes and sensorineural deafness. It is caused by various mutations in the SLC19A2 gene that impair the encoded thiamine transporter. So far, only 70 affected individuals mainly from consanguineous families of Middle and Far Eastern origin with a wide spectrum of signs and symptoms, variable onset of disease, and primarily homozygote mutations in SLC19A2 have been reported. We present the first genuine central European descendent with combined heterozygote mutations in SLC19A2, an Austrian boy suffering from pancytopenia and non-type I diabetes. Both manifestations resolved completely under continuous oral thiamine supplementation. Our observation underlines that despite its rarity, TRMA must be considered as an important differential diagnosis in native central European patients with suggestive signs and symptoms. An early molecular genetic verification of the diagnosis provides a sound basis for a successful and simple treatment that helps to prevent severe sequelae. PMID:22576805

Pichler, Herbert; Zeitlhofer, Petra; Dworzak, Michael N; Diakos, Christopher; Haas, Oskar A; Kager, Leo



Anemia as a risk factor for kidney function decline in individuals with heart failure.  


Chronic kidney disease (CKD), anemia, and declining kidney function are recognized as risk factors for adverse outcomes in patients with heart failure. This analysis was conducted to evaluate whether anemia is a risk factor for kidney function decrease in patients with heart failure. Data from the Studies of Left Ventricular Dysfunction (SOLVD), a randomized trial of enalapril versus placebo in patients with ejection fractions or=6 ml/min/1.73 m(2)/year. Anemia was defined as baseline hematocrit <36%. Multivariate logistic regression weighted by the number of GFR assessments was used to test the relation between anemia and rapid decrease. We also evaluated whether CKD (baseline GFR anemia and rapid decrease. In the 6,360 subjects, the mean age was 59 years, 31% had CKD, and 6% had anemia. Median follow-up was 2 years. In multivariate analysis, anemia was associated with a 1.30 increased odds (95% confidence interval 1.18 to 1.45) of rapid decrease in GFR. In subjects with CKD, anemia was associated with a 1.71 increased odds (95% confidence interval 1.43 to 2.05) of rapid decrease, while in subjects without CKD, anemia was associated with a 1.16 increased odds (95% confidence interval 1.03 to 1.31) of rapid decrease (p for interaction <0.001). In conclusion, anemia is associated with a rapid decrease in kidney function in patients with heart failure, particularly in those with underlying CKD. PMID:17437743

Bansal, Nisha; Tighiouart, Hocine; Weiner, Daniel; Griffith, John; Vlagopoulos, Panagiotis; Salem, Deeb; Levin, Adeera; Sarnak, Mark J



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

PubMed Central

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

Baranwal, Annu; Baranwal, Anshu; Roy, Nobhojit



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

PubMed Central

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



Autoimmune Polyglandular Syndrome Type 3 with Anorexia  

PubMed Central

A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12?kg/3 months). He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM). Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and Hashimoto's thyroiditis. Extended periods of cobalamin deficiency can cause serious complications such as ataxia and dementia, and these complications may not be reversible if replacement therapy with cobalamin is delayed. Although type 1 diabetes mellitus with coexisting pernicious anemia is very rare in Japan, physicians should consider the possibility of pernicious anemia when patients with diabetes mellitus have cryptogenic anorexia with the finding of significant macrocytosis (MCV?>?100?fL). PMID:23304573

Kahara, Toshio; Wakakuri, Hitomi; Takatsuji, Juri; Motoo, Iori; Shima, Kosuke R.; Ishikura, Kazuhide; Usuda, Rika; Noda, Yatsugi



Autoimmune polyglandular syndrome type 3 with anorexia.  


A 71-year-old man with diabetes mellitus visited our hospital with complaints of anorexia and weight loss (12?kg/3 months). He had megaloblastic anemia, cobalamin level was low, and autoantibody to intrinsic factor was positive. He was treated with intramuscular cyanocobalamin, and he was able to consume meals. GAD autoantibody and ICA were positive, and he was diagnosed with slowly progressive type 1 diabetes mellitus (SPIDDM). Thyroid autoantibodies were positive. According to these findings, he was diagnosed with autoimmune polyglandular syndrome type 3 with SPIDDM, pernicious anemia, and Hashimoto's thyroiditis. Extended periods of cobalamin deficiency can cause serious complications such as ataxia and dementia, and these complications may not be reversible if replacement therapy with cobalamin is delayed. Although type 1 diabetes mellitus with coexisting pernicious anemia is very rare in Japan, physicians should consider the possibility of pernicious anemia when patients with diabetes mellitus have cryptogenic anorexia with the finding of significant macrocytosis (MCV?>?100?fL). PMID:23304573

Kahara, Toshio; Wakakuri, Hitomi; Takatsuji, Juri; Motoo, Iori; Shima, Kosuke R; Ishikura, Kazuhide; Usuda, Rika; Noda, Yatsugi



Anomalous cell surface structure of sickle cell anemia erythrocytes as demonstrated by cell surface labeling and endo-beta-galactosidase treatment  

SciTech Connect

Erythrocyte surface glycoproteins from patients with various types of sickle cell anemia have been analyzed and compared with those from normal individuals. By hemagglutination with various anti-carbohydrate antibodies, sickle cells showed profound increase of i antigens and moderate increase of GlcNAc beta 1 leads to 3Gal beta 1 leads to 3 Glc structure, whereas antigenicity toward globosidic structure was unchanged. In parallel to these findings, erythrocytes of sickle cell patients have additional sialylated lactosaminoglycan in Band 3. Thus, it can be concluded that erythrocytes of sickle cell patients are characterized by an altered cell surface structure which does not appear to be due to topographical changes of cell surface membrane. It is possible that the anemia or the ''stress'' hematopoiesis in these patients is responsible for these changes.

Fukuda, M.; Fukuda, M.N.; Hakomori, S.; Papayannopoulou, T.



Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia  

PubMed Central

Diamond Blackfan anemia (DBA) is a lineage-selective inherited bone-marrow failure syndrome characterized primarily by anemia and physical malformations. Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50–60% of affected patients. Despite significant progress, identification of gene abnormalities in the remaining patients remains an important question since present data suggests that mutations in other members of the ribosomal protein gene complement do not explain those cases without an identified genetic lesion in these genes. Genetic studies have also raised new questions with the recognition of substantial variability in the manifestations of DBA, ranging from ribosomal protein mutations in otherwise asymptomatic individuals to those with classic severe red-cell aplasia with characteristic malformations, at times within the same kindred. In this review, we summarize the genetic basis of DBA and discuss mechanisms by which the phenotype of DBA might be modified. PMID:21435509

Farrar, Jason E; Dahl, Niklas



Probing vasoocclusion phenomena in sickle cell anemia via mesoscopic simulations.  


Vasoocclusion crisis is a key hallmark of sickle cell anemia. Although early studies suggest that this crisis is caused by blockage of a single elongated cell, recent experiments have revealed that vasoocclusion is a complex process triggered by adhesive interactions among different cell groups in multiple stages. However, the quantification of the biophysical characteristics of sickle cell anemia remains an open issue. Based on dissipative particle dynamics, we develop a multiscale model for the sickle red blood cells (SS-RBCs), accounting for diversity in both shapes and cell rigidities, to investigate the precise mechanism of vasoocclusion. First, we investigate the adhesive dynamics of a single SS-RBC in shear flow and static conditions, and find that the different cell groups (SS2: young-deformable SS-RBCs, ISCs: rigid-irreversible SS-RBCs) exhibit heterogeneous adhesive behavior due to the diverse cell morphologies and membrane rigidities. We quantify the observed adhesion behavior (in static conditions) in terms of a balance of free energies due to cell adhesion and deformation, and propose a power law that relates the free-energy increase as a function of the contact area. We further simulate postcapillary flow of SS-RBC suspensions with different cell fractions. The more adhesive SS2 cells interact with the vascular endothelium and trap ISC cells, resulting in vasoocclusion in vessels less than 12-14 ?m depending on the hematocrit. Under inflammation, adherent leukocytes may also trap ISC cells, resulting in vasoocclusion in even larger vessels. PMID:23798393

Lei, Huan; Karniadakis, George E



Molecular aspects of erythroenzymopathies associated with hereditary hemolytic anemia.  


Since the discovery of glucose 6-phosphate dehydrogenase (G6PD) and of pyruvate kinase deficiencies, erythroenzymopathies associated with hereditary hemolytic anemia have been extensively investigated. Kinetic and electrophoretic studies have shown that most, if not all, erythroenzymopathies are caused by the production of a mutant enzyme. Except for a few enzymes that are abundant in blood and tissues, it is difficult to obtain enough sample to study the functional and structural abnormalities of mutant enzymes associated with genetic disorders in man. The primary structures of only two normal red cell enzymes which can cause hereditary hemolytic anemia, phosphoglycerate kinase (PGK) and adenylate kinase, have been determined. Single amino acid substitutions of PGK variants have been found, and the identification of the exact molecular abnormalities of such variants has helped us to understand the accompanying functional abnormality. Gene cloning makes possible the identification of the DNA sequence that codes for enzyme proteins. Recently, human complementary DNA (cDNA) for aldolase, PGK, G6PD, and adenosine deaminase (ADA) have been isolated, and the nucleotide sequences for PGK and ADA determined. In the near future, human cDNA sequencing should permit identification of the gene alteration that gives rise to the mutant enzymes. PMID:2990202

Miwa, S; Fujii, H



Treatment of iron deficiency anemia associated with gastrointestinal tract diseases.  


The gastrointestinal (GI) tract is a common site of bleeding that may lead to iron deficiency anemia (IDA). Treatment of IDA depends on severity and acuity of patients' signs and symptoms. While red blood cell transfusions may be required in hemodynamically unstable patients, transfusions should be avoided in chronically anemic patients due to their potential side effects and cost. Iron studies need to be performed after episodes of GI bleeding and stores need to be replenished before anemia develops. Oral iron preparations are efficacious but poorly tolerated due to non-absorbed iron-mediated GI side effects. However, oral iron dose may be reduced with no effect on its efficacy while decreasing side effects and patient discontinuation rates. Parenteral iron therapy replenishes iron stores quicker and is better tolerated than oral therapy. Serious hypersensitive reactions are very rare with new intravenous preparations. While data on worsening of inflammatory bowel disease (IBD) activity by oral iron therapy are not conclusive, parenteral iron therapy still seems to be advantageous in the treatment of IDA in patients with IBD, because oral iron may not be sufficient to overcome the chronic blood loss and GI side effects of oral iron which may mimic IBD exacerbation. Finally, we believe the choice of oral vs parenteral iron therapy in patients with IBD should primarily depend on acuity and severity of patients' signs and symptoms. PMID:20533591

Bayraktar, Ulas D; Bayraktar, Soley




E-print Network

The association of anemia with pregnancy is well recognized. In this country the anemia is commonly due to iron deficiencies and is hypochromic. In the tropics a macrocytic, hyperchromic anemia of pregnancy has attracted attention and has been the subject of many recent investigations. Its counterpart in the temperate climates, the macrocytic or so-called pernicious anemia of pregnancy, has been considered a relatively rare dyscrasia.', The macrocytic anemia of pregnancy was first recognized over a century ago when Channing2 reported ten fatal cases. In 1919 Osler7 differentiated the so-called pernicious anemia of pregnancy from typical Addisonian anemia by pointing out that when recovery from the former disease took place it was permanent and the woman might escape it in subsequent pregnancies. In macrocytic anemia of pregnancy the peripheral blood picture may vgry from one identical with that of true pernicous anemia to one lacking all characteristic features of this anemia.1 13 On the other hand, examination of the bone marrow reveals pictures identical with those found in true Addisonian pernicious anemia and clearly indicates that macrocytic anemia of pregnancy has for its immediate cause arrested maturation of the megaloblasts. The two features which may be relied upon for the certain diagnosis of macrocytic anemia of pregnancy are the appearance of megaloblasts in the peripheral blood and the finding of a megaloblastic change in the bone marrow.1 If the peripheral blood picture is not diagnostic, bone marrow biopsy by means of sternal puncture is necessary or some cases will be missed. The following features serve to differentiate the macrocytic anemia of pregnancy from the true Addisonian pernicious anemia: the presence of free hydrochloric acid in gastric juice either without or after histamine injection, a lower frequency and the degree of macrocytosis and

Sidney E


Anemia after gastrectomy for early gastric cancer: Long-term follow-up observational study  

PubMed Central

AIM: To identify the incidence and etiology of anemia after gastrectomy in patients with long-term follow-up after gastrectomy for early gastric cancer. METHODS: The medical records of those patients with early gastric adenocarcinoma who underwent curative gastrectomy between January 2006 and October 2007 were reviewed. Patients with anemia in the preoperative workup, cancer recurrence, undergoing systemic chemotherapy, with other medical conditions that can cause anemia, or treated during follow up with red cell transfusions or supplements for anemia were excluded. Anemia was defined by World Health Organization criteria (Hb < 12 g/dL in women and < 13 g/dL in men). Iron deficiency was defined as serum ferritin < 20 ?g/dL. Vitamin B12 deficiency was defined as serum vitamin B12 < 200 pg/mL. Iron deficiency anemia was defined as anemia with concomitant iron deficiency. Anemia from vitamin B12 deficiency was defined as megaloblastic anemia (mean cell volume > 100 fL) with vitamin B12 deficiency. The profile of anemia over 48 mo of follow-up was analyzed. RESULTS: One hundred sixty-one patients with gastrectomy for early gastric cancer were analyzed. The incidence of anemia was 24.5% at 3 mo after surgery and increased up to 37.1% at 48 mo after surgery. The incidence of iron deficiency anemia increased during the follow up and became the major cause of anemia at 48 mo after surgery. Anemia of chronic disease and megaloblastic anemia were uncommon. The incidence of anemia in female patients was significantly higher than in male patients at 12 (40.0% vs 22.0%, P = 0.033), 24 (45.0% vs 25.0%, P = 0.023), 36 (55.0% vs 28.0%, P = 0.004), and 48 mo (52.0% vs 31.0%, P = 0.022) after surgery. Patients with total gastrectomy showed significantly higher incidence of anemia than patients with subtotal gastrectomy at 48 mo after surgery (60.7% vs 31.3%, P = 0.008). The incidence of iron deficiency was significantly higher in female patients than in male patients at 6 (35.4% vs 13.3%, P = 0.002), 12 (45.8% vs 16.8%, P < 0.001), 18 (52.1% vs 22.3%, P < 0.001), 24 (60.4% vs 20.9%, P < 0.001), 36 (62.5% vs 29.2%, P < 0.001), and 48 mo (66.7% vs 34.7%, P = 0.001) after surgery. CONCLUSION: Anemia was frequent after gastrectomy for early gastric cancer, with iron deficiency being the major cause. Evaluation for anemia including iron status should be performed after gastrectomy and appropriate iron replacement should be considered. PMID:23155340

Lim, Chul-Hyun; Kim, Sang Woo; Kim, Won Chul; Kim, Jin Soo; Cho, Yu Kyung; Park, Jae Myung; Lee, In Seok; Choi, Myung-Gyu; Song, Kyo-Young; Jeon, Hae Myung; Park, Cho-Hyun



Managing dialysis patients who develop anemia caused by chronic kidney disease: focus on peginesatide.  


Anemia in chronic kidney disease is a prevalent and expensive problem in the United States, and it is well documented that anemia worsens as glomerular filtration rates decline. The complications of severe anemia in this patient population contribute significantly to their overall morbidity with increased cardiovascular complications, decreased quality of life, and increased dependence on transfusions to maintain adequate hemoglobin levels. Erythropoietin-stimulating agents (ESAs) have revolutionized the treatment of anemia in this population, but there has been a great deal of controversy surrounding the quest for the ideal hemoglobin target. In addition, there are economic and practice management implications where anemia treatment is concerned, with ongoing refinement of Centers for Medicare and Medicaid Services-bundled payments. One of the newest additions to the arsenal used to fight anemia in end-stage renal disease patients is peginesatide (Omontys), a synthetic, PEGylated, peptide-based ESA that acts by stimulating the erythropoietin receptor. The role of peginesatide in the future treatment of anemia in chronic kidney disease remains uncertain, with new safety concerns being brought to attention as it emerges on the market, prompting a national recall. PMID:24023516

Valliant, Amanda; Hofmann, R Michael



MCPIP1 Deficiency in Mice Results in Severe Anemia Related to Autoimmune Mechanisms  

PubMed Central

Autoimmune gastritis is an organ-specific autoimmune disease of the stomach associated with pernicious anemia. The previous work from us and other groups identified MCPIP1 as an essential factor controlling inflammation and immune homeostasis. MCPIP1-/- developed severe anemia. However, the mechanisms underlying this phenotype remain unclear. In the present study, we found that MCPIP1 deficiency in mice resulted in severe anemia related to autoimmune mechanisms. Although MCPIP1 deficiency did not affect erythropoiesis per se, the erythropoiesis in MCPIP1-/- bone marrow erythroblasts was significantly attenuated due to iron and vitamin B12 (VB12) deficiency, which was mainly resulted from autoimmunity-associated gastritis and parietal cell loss. Consistently, exogenous supplement of iron and VB12 greatly improved the anemia phenotype of MCPIP1-/- mice. Finally, we have evidence suggesting that autoimmune hemolysis may also contribute to anemia phenotype of MCPIP1-/- mice. Taken together, our study suggests that MCPIP1 deficiency in mice leads to the development of autoimmune gastritis and pernicious anemia. Thus, MCPIP1-/- mice may be a good mouse model for investigating the pathogenesis of pernicious anemia and testing the efficacy of some potential drugs for treatment of this disease. PMID:24324805

Zhou, Zhou; Miao, Ruidong; Huang, Shengping; Elder, Brandon; Quinn, Tim; Papasian, Christopher J.; Zhang, Jifeng; Fan, Daping; Chen, Y. Eugene; Fu, Mingui



Aplastic anemia associated to systemic lupus erythematosus in an AIDS patient: a case report  

PubMed Central

Aplastic anemia is a bone marrow failure syndrome characterized by peripheral cytopenias and hypocellular bone marrow. Although aplastic anemia is idiopathic in most cases, rheumatic diseases such as systemic lupus erythematosus are recognized as causes of aplastic anemia, with their possible etiological mechanisms being T and B lymphocyte dysfunction and pro-inflammatory cytokines and autoantibody production directed against bone marrow components. In the course of the human immunodeficiency virus infection/acquired immunodeficiency syndrome, the identification of autoantibodies and the occurrence of rheumatic events, in addition to the natural course of systemic lupus erythematosus which is modified by immune changes that are characteristic of human immunodeficiency virus infection/acquired immunodeficiency syndrome, make the diagnosis of systemic lupus erythematosus challenging. This study reports the case of a woman with acquired immunodeficiency syndrome treated with a highly active antiretroviral therapy, who had prolonged cytopenias and hypocellular bone marrow consistent with aplastic anemia. The clinical picture, high autoantibodies titers, and sustained remission of the patient's hematological status through immunosuppression supported the diagnosis of systemic lupus erythematosus-associated aplastic anemia. This is the first report of aplastic anemia concurrent with systemic lupus erythematosus and acquired immunodeficiency syndrome, providing additional evidence that immune dysfunction is a key part of the pathophysiological mechanism of aplastic anemia. PMID:24255622

de Oliveira, Leonardo Rodrigues; Ferreira, Thais Camargos; Neves, Fernando de Freitas; Meneses, Antonio Carlos de Oliveira



Response of Paroxysmal Nocturnal Hemoglobinuria Clone with Aplastic Anemia to Rituximab  

PubMed Central

Paroxysmal nocturnal hemoglobinuria is caused by expansion of a hematopoietic stem cell clone with an acquired somatic mutation in the PIG-A gene. This mutation aborts the synthesis and expression of the glycosylphosphatidylinositol anchor proteins CD55 and CD59 on the surface of blood cells, thereby making them more susceptible to complement-mediated damage. A spectrum of disorders occurs in PNH ranging from hemolytic anemia and thrombosis to myelodysplasia, aplastic anemia and, myeloid leukemias. Aplastic anemia is one of the most serious and life-threatening complications of PNH, and a PNH clone is found in almost a third of the cases of aplastic anemia. While allogeneic bone marrow transplantation and T cell immune suppression are effective treatments for aplastic anemia in PNH, these therapies have significant limitations. We report here the first case, to our knowledge, of PNH associated with aplastic anemia treated with the anti-CD20 monoclonal antibody rituximab, which was associated with a significant reduction in the size of the PNH clone and recovery of hematopoiesis. We suggest that this less toxic therapy may have a significant role to play in treatment of PNH associated with aplastic anemia. PMID:22937317

Raghupathy, Radha; Derman, Olga



Managing dialysis patients who develop anemia caused by chronic kidney disease: focus on peginesatide  

PubMed Central

Anemia in chronic kidney disease is a prevalent and expensive problem in the United States, and it is well documented that anemia worsens as glomerular filtration rates decline. The complications of severe anemia in this patient population contribute significantly to their overall morbidity with increased cardiovascular complications, decreased quality of life, and increased dependence on transfusions to maintain adequate hemoglobin levels. Erythropoietin-stimulating agents (ESAs) have revolutionized the treatment of anemia in this population, but there has been a great deal of controversy surrounding the quest for the ideal hemoglobin target. In addition, there are economic and practice management implications where anemia treatment is concerned, with ongoing refinement of Centers for Medicare and Medicaid Services-bundled payments. One of the newest additions to the arsenal used to fight anemia in end-stage renal disease patients is peginesatide (Omontys), a synthetic, PEGylated, peptide-based ESA that acts by stimulating the erythropoietin receptor. The role of peginesatide in the future treatment of anemia in chronic kidney disease remains uncertain, with new safety concerns being brought to attention as it emerges on the market, prompting a national recall. PMID:24023516

Valliant, Amanda; Hofmann, R Michael



Anemia In A Moroccan Hospital Setting: Case Of Regional Hospital “Idrissi”, Kenitra  

E-print Network

Abstract: Anemia remains a public health problem in the World. Nationally, more than one third of the women and under five children are affected. Aim: To assess anemia typology of adults in a hospital setting and study the impact of socio-demographic factors on the occurrence of anemia and make a typology using haemogram. Method: Eighty two adult patients (42 women and 40 men) were observed in an internal medical unit in the Idrissi hospital-Kenitra, Morocco. The only inclusion criteria were anemia status (less than 10g/dl Hemoglobin). Results: Level of instruction of patients varies remarkably with age, sex and area of residency. Poverty and inaccessibility to health facilities have an impact on the apparition of anaemia. At the biological aspect, the microcytic anaemia is the frequent form with 39%, while the macrocytic represents 37.8 % and normocytic one affects 23.2 % of the subjects. According to TCMH levels, hypochromic anemia is found in 63.4 % and normochromic in 36.6%. Severe anemia (HB<6.5 g/dL) is the major prevalent form in old as well as young women. Conclusion: Anemia is a frequent affection in this hospital setting. Its severity is associated with weakness of immunity defense and many inherent diseases.

Mohamed El Hioui; Ahmed Omar; Touhami Ahami; Youssef Aboussaleh; Fatima-zahra Azzaoui; Hamid Loutfi


Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia  

PubMed Central

Fanconi anemia (FA) is a rare genomic instability disorder characterized by progressive bone marrow failure and predisposition to cancer. FA-associated gene products are involved in the repair of DNA interstrand crosslinks (ICLs). Fifteen FA-associated genes have been identified, but the genetic basis in some individuals still remains unresolved. Here, we used whole-exome and Sanger sequencing on DNA of unclassified FA individuals and discovered biallelic germline mutations in ERCC4 (XPF), a structure-specific nuclease-encoding gene previously connected to xeroderma pigmentosum and segmental XFE progeroid syndrome. Genetic reversion and wild-type ERCC4 cDNA complemented the phenotype of the FA cell lines, providing genetic evidence that mutations in ERCC4 cause this FA subtype. Further biochemical and functional analysis demonstrated that the identified FA-causing ERCC4 mutations strongly disrupt the function of XPF in DNA ICL repair without severely compromising nucleotide excision repair. Our data show that depending on the type of ERCC4 mutation and the resulting balance between both DNA repair activities, individuals present with one of the three clinically distinct disorders, highlighting the multifunctional nature of the XPF endonuclease in genome stability and human disease. PMID:23623386

Bogliolo, Massimo; Schuster, Beatrice; Stoepker, Chantal; Derkunt, Burak; Su, Yan; Raams, Anja; Trujillo, Juan P.; Minguillon, Jordi; Ramirez, Maria J.; Pujol, Roser; Casado, Jose A.; Banos, Rocio; Rio, Paula; Knies, Kerstin; Zuniga, Sheila; Benitez, Javier; Bueren, Juan A.; Jaspers, Nicolaas G.J.; Scharer, Orlando D.; de Winter, Johan P.; Schindler, Detlev; Surralles, Jordi



Inflammation-mediated Notch signaling skews Fanconi Anemia hematopoietic stem cell differentiation  

PubMed Central

Hematopoietic stem cells (HSCs) can either self-renew or differentiate into various types of cells of the blood lineage. Signaling pathways that regulate this choice of self-renewal versus differentiation are currently under extensive investigation. Here we report that deregulation of Notch signaling skews HSC differentiation in mouse models of Fanconi anemia (FA), a genetic disorder associated with bone marrow failure and progression to leukemia and other cancers. In mice expressing a transgenic Notch reporter, deletion of the Fanca or Fancc gene enhances Notch signaling in multipotential progenitors (MPPs), which is correlated with decreased phenotypic long-term HSCs and increased formation of MPP1 progenitors. Furthermore, we found an inverse correlation between Notch signaling and self-renewal capacity in FA hematopoietic stem and progenitor cells. Significantly, FA deficiency in MPPs deregulates a complex network of genes in the Notch and canonical NF-?B pathways. Genetic ablation or pharmacologic inhibition of NF-?B reduces Notch signaling in FA MPPs to near wide-type level, and blocking either NF-?B or Notch signaling partially restores FA HSC quiescence and self-renewal capacity. Taken together, these results suggest a functional crosstalk between Notch signaling and NF-?B pathway in regulation of HSC differentiation. PMID:23926327

Du, Wei; Amarachintha, Surya; Sipple, Jared; Schick, Jonathan; Steinbrecher, Kris; Pang, Qishen



Cocaine-induced microangiopathic hemolytic anemia mimicking idiopathic thrombotic thrombocytopenic purpura: A case report and review of the literature.  


Our understanding of the pathogenesis of idiopathic thrombotic thrombocytopenic purpura (TTP) has increased, but remains incomplete, particularly with respect to cases of suspected TTP that are either unresponsive to therapeutic plasma exchange (TPE) or have normal ADAMTS13 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif 13) activity. A 53-year-old woman presented with severe anemia (hemoglobin 1.8 g/dL) and clinical and laboratory findings consistent with TTP in conjunction with acute cocaine use. The patient was treated with TPE until the pre-treatment ADAMTS13 activity was reported as normal without evidence of an inhibitor. TPE was stopped and the patient continued to improve without treatment. This patient's microangiopathic hemolytic anemia (MAHA) appeared to be secondary to cocaine use. The proposed pathogenesis is likely a combination of cocaine-induced vasoconstriction, vascular damage, platelet activation, and procoagulation. This is the fifth published report of cocaine-induced MAHA and to our knowledge the first with ADAMTS13 testing. J. Clin. Apheresis 29:284-289, 2014. © 2014 Wiley Periodicals, Inc. PMID:24753113

Odronic, Shelley; Quraishy, NurJehan; Manroa, Pooja; Kier, Yelena; Koo, Anna; Figueroa, Priscilla; Hamilton, Aaron



Analysis of host- and strain-dependent cell death responses during infectious salmon anemia virus infection in vitro  

PubMed Central

Background Infectious salmon anemia virus (ISAV) is an aquatic orthomyxovirus and the causative agent of infectious salmon anemia (ISA), a disease of great importance in the Atlantic salmon farming industry. In vitro, ISAV infection causes cytophatic effect (CPE) in cell lines from Atlantic salmon, leading to rounding and finally detachment of the cells from the substratum. In this study, we investigated the mode of cell death during in vitro ISAV infection in different Atlantic salmon cell lines, using four ISAV strains causing different mortality in vivo. Results The results show that caspase 3/7 activity increased during the course of infection in ASK and SHK-1 cells, infected cells showed increased surface expression of phosphatidylserine and increased PI uptake, compared to mock infected cells; and morphological alterations of the mitochondria were observed. Expression analysis of immune relevant genes revealed no correlation between in vivo mortality and expression, but good correlation in expression of interferon genes. Conclusion Results from this study indicate that there is both strain and cell type dependent differences in the virus-host interaction during ISAV infection. This is important to bear in mind when extrapolating in vitro findings to the in vivo situation. PMID:19566966

Schi?tz, Berit L; Baekkevold, Espen S; Poulsen, Lene C; Mjaaland, Siri; Gj?en, Tor



Prevalence and Outcome of Anemia After Restorative Proctocolectomy: A Clinical Literature Review  

PubMed Central

PURPOSE Iron and/or vitamin B12 deficiency anemias, which have adverse effects on patients’ quality of life, are commonly observed and often overlooked complications after restorative proctocolectomy. We performed a systematic review of publications on the prevalence of anemia as well as on the impact of anemia on a range of clinical, functional, quality of life, and economic outcomes in restorative proctocolectomy patients. This information is important to help healthcare providers through a comprehensive overview to increase awareness about a condition that could require therapy to improve patient healthcare and quality of life. METHODS We reviewed the English language publications on the incidence of anemia and its adverse effect after restorative proctocolectomy The United States National Library of Medicine database (MEDLINE), the Excerpta Medica database (EMBASE), the Cochran Library, and the Google® search engine were searched for published articles on the prevalence and impact of anemia in post-restorative proctocolectomy surgical patients. RESULTS The long-term complication most frequently described after RPC is pouchitis. Pouchitis is significantly associated with iron deficiency anemia caused by pouch mucosal bleeding. Other causes are insufficient and/or impaired iron absorption. It has also been observed, however, that restorative proctocolectomy patients with underlying familial adenomatous polyposis rarely develop pouchitis yet show higher rates of iron deficiency anemia compared to those patients with underlying ulcerative colitis. Other causes shown as independent risk factors for iron deficiency anemia in restorative proctocolectomy patients are malignancy, desmoid tumors, and J-pouch configuration. Vitamin B12 deficiency anemia is also common after restorative proctocolectomy. About one-third of restorative proctocolectomy patients show abnormal Schilling test and 5 percent have low referenced serum cobalamin. It has been observed that the degree resection of the terminal-ileum, malabsorption, bacterial overgrowth, and dietary factors are among the known causes of cobalamin deficiency. Folate deficiency has not been reported in restorative proctocolectomy patients. Describing restorative proctocolectomy surgery and its outcomes, in patients without anemia, the quality of life is reported excellent regardless of operative technique. CONCLUSIONS Anemia is not uncommon following restorative proctocolectomy and has been shown to have negative effects on the patient's quality of life and the economy and may substantially increase healthcare costs. The treatment of anemia and its underlying causes is important to improving clinical and economic outcomes. PMID:19404082

M'Koma, Amosy E.; Wise, Paul E.; Schwartz, David A.; Muldoon, Roberta L.; Herline, Alan J.



The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.  


Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination. Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1. PMID:16116424

Levran, Orna; Attwooll, Claire; Henry, Rashida T; Milton, Kelly L; Neveling, Kornelia; Rio, Paula; Batish, Sat Dev; Kalb, Reinhard; Velleuer, Eunike; Barral, Sandra; Ott, Jurg; Petrini, John; Schindler, Detlev; Hanenberg, Helmut; Auerbach, Arleen D



Effect of anemia on tumor radiosensitivity under normo and hyperbaric conditions  

SciTech Connect

The effect of chronic anemia on tumor radiosensitivity in a murine tumor has been investigated. Anemia was induced by bilateral kidney irradiation given several months before tumor implantation. Anemic, anemic transfused, and normal non-anemic age-matched tumor bearing animals were irradiated with X rays (2 F/24 hr) either in air, air plus misonidazole, or under hyperbaric oxygen. The most resistant response was that of tumors grown in normal mice treated in air. Anemia produced an increase in radiosensitivity which was further enhanced by red blood cell replacement. The most sensitive overall response was seen in the anemic-transfused group treated with HBO.

Rojas, A.; Stewart, F.A.; Smith, K.A.; Soranson, J.A.; Randhawa, V.S.; Stratford, M.R.; Denekamp, J.



Targeting the Fanconi Anemia Pathway to Identify Tailored Anticancer Therapeutics  

PubMed Central

The Fanconi Anemia (FA) pathway consists of proteins involved in repairing DNA damage, including interstrand cross-links (ICLs). The pathway contains an upstream multiprotein core complex that mediates the monoubiquitylation of the FANCD2 and FANCI heterodimer, and a downstream pathway that converges with a larger network of proteins with roles in homologous recombination and other DNA repair pathways. Selective killing of cancer cells with an intact FA pathway but deficient in certain other DNA repair pathways is an emerging approach to tailored cancer therapy. Inhibiting the FA pathway becomes selectively lethal when certain repair genes are defective, such as the checkpoint kinase ATM. Inhibiting the FA pathway in ATM deficient cells can be achieved with small molecule inhibitors, suggesting that new cancer therapeutics could be developed by identifying FA pathway inhibitors to treat cancers that contain defects that are synthetic lethal with FA. PMID:22693661

Jenkins, Chelsea; Kan, Jenny; Hoatlin, Maureen E.



Towards a Molecular Understanding of the Fanconi Anemia Core Complex  

PubMed Central

Fanconi Anemia (FA) is a genetic disorder characterized by the inability of patient cells to repair DNA damage caused by interstrand crosslinking agents. There are currently 14 verified FA genes, where mutation of any single gene prevents repair of DNA interstrand crosslinks (ICLs). The accumulation of ICL damage results in genome instability and patients having a high predisposition to cancers. The key event of the FA pathway is dependent on an eight-protein core complex (CC), required for the monoubiquitination of each member of the FANCD2-FANCI complex. Interestingly, the majority of patient mutations reside in the CC. The molecular mechanisms underlying the requirement for such a large complex to carry out a monoubiquitination event remain a mystery. This paper documents the extensive efforts of researchers so far to understand the molecular roles of the CC proteins with regard to its main function in the FA pathway, the monoubiquitination of FANCD2 and FANCI. PMID:22675617

Hodson, Charlotte; Walden, Helen



Fanconi anemia signaling network regulates the spindle assembly checkpoint  

PubMed Central

Fanconi anemia (FA) is a heterogenous genetic disease with a high risk of cancer. The FA proteins are essential for interphase DNA damage repair; however, it is incompletely understood why FA-deficient cells also develop gross aneuploidy, leading to cancer. Here, we systematically evaluated the role of the FA proteins in chromosome segregation through functional RNAi screens and analysis of primary cells from patients with FA. We found that FA signaling is essential for the spindle assembly checkpoint and is therefore required for high-fidelity chromosome segregation and prevention of aneuploidy. Furthermore, we discovered that FA proteins differentially localize to key structures of the mitotic apparatus in a cell cycle–dependent manner. The essential role of the FA pathway in mitosis offers a mechanistic explanation for the aneuploidy and malignant transformation known to occur after disruption of FA signaling. Collectively, our findings provide insight into the genetically unstable cancers resulting from inactivation of the FA/BRCA pathway. PMID:23934222

Nalepa, Grzegorz; Enzor, Rikki; Sun, Zejin; Marchal, Christophe; Park, Su-Jung; Yang, Yanzhu; Tedeschi, Laura; Kelich, Stephanie; Hanenberg, Helmut; Clapp, D. Wade



Five Fanconi anemia patients with unusual organ pathologies.  


Fanconi anemia (FA) is a rare autosomal recessive disorder that presents with variable organ abnormalities, progressive cytopenia, and susceptibility to the development of several malignancies. Although some of the organ pathologies such as microcephaly, microphthalmia, skin dyspigmentation, urogenital system involvement, and radial ray skeletal abnormalities are relatively common, there are some other abnormalities that are rarely associated with the disease [Alter BP. In: Nathan DG, Oski FA, editors. Hematology of infancy and childhood. Philadelphia: Saunders; 2003. p 259-273]. In this paper, five cases of unrelated FA patients with unusual organ pathologies, including chronic obstructive lung disease, lipodystrophy, Sprengel's deformity, diaphragmatic hernia, and inflammatory linear verrucous epidermal nevus (ILVEN) are presented. Recognition of unusual pathologies associated with FA is important in order to improve our understanding of the relationship between the disease and presenting organ pathologies. PMID:15307106

Unal, Selma; Ozbek, Namik; Kara, Abdurrahman; Alika?ifo?lu, Mehmet; Gümrük, Fatma



Sickle cell anemia: the impact of discovery, politics, and business.  


Sickle cell anemia affects 100,000 African Americans. Frequent blood transfusions to prevent stroke lead to fatal iron-overload. Iron chelation with deferoxamine (DFO) requires expensive infusions. In the present study, we explore the feasibility of using a new delivery system for DFO, i.e., targeted liposome entrapped DFO (LDFO). Our results reveal that our novel formulation lowered the dosage requirements by 50%-75%, allowed for less frequent and shorter treatment durations, eliminating the need for a pump and the standard multi-night administration of DFO. In an iron-overloaded rat model, LDFO reduced iron in the liver, and also improved cardiac function. The lower dosage and improved safety profile makes our novel LDFO delivery system a highly desirable new therapy. Meanwhile, this system will also provide an ideal model for studying the mechanism of Fe overload-induced arrhythmias. The political and economic factors related to health care disparities are also discussed. PMID:24241268

Xie, Lai-Hua; Doye, Angelia A; Conley, Eric; Gwathmey, Judith K



Paramagnetic Europium Salen Complex and Sickle-Cell Anemia  

NASA Astrophysics Data System (ADS)

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.

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




E-print Network

Azathioprine (AZA) is used clinically sometimes at high doses for short-term therapy to treat acute rejection of kidney allograft or to desensitize hypersensitive patients to it. The delayed consequences of this approach had not been well investigated. Therefore, in this study we have investigated the delayed consequences of high-dose short-term AZA administration in rabbits. Our results showed that oral administration of AZA (10 mg/kg/day) to rabbits for two weeks induced reversible thrombocytosis and delayed fatal macrocytic anemia. Moreover, neither the hemoglobin level nor the white blood cell count was affected by AZA. The solvent of AZA had no effect on blood cell counts and hemoglobin levels. We can conclude that although high-dose AZA therapy may not induce immediate and significant changes in blood picture, delayed fatal macrocytosis may occur.

Pol J. Pharmacol; Saafan Al-safi; Bassam Tashtoush; Khalid Abdul-razzak; B. Tashtoush; K. Abdul-razzak; Pol J. Pharmacol


Functional and clinical impact of novel tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.  


Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the iron hormone hepcidin. The disease is caused by variants in the transmembrane protease serine 6 (TMPRSS6) gene that encodes the type II serine protease matriptase-2, a negative regulator of hepcidin transcription. Sequencing analysis of the TMPRSS6 gene in 21 new IRIDA patients from 16 families with different ethnic origin reveal 17 novel mutations, including the most frequent mutation in Southern Italy (p.W590R). Eight missense mutations were analyzed in vitro. All but the p.T287N variant impair matriptase-2 autoproteotylic activation, decrease the ability to cleave membrane HJV and inhibit the HJV-dependent hepcidin activation. Genotype-phenotype studies in IRIDA patients have been so far limited due to the relatively low number of described patients. Our genotype-phenotype correlation analysis demonstrates that patients carrying two nonsense mutations present a more severe anemia and microcytosis and higher hepcidin levels than the other patients. We confirm that TMPRSS6 mutations are spread along the gene and that mechanistically they fully or partially abrogate hepcidin inhibition. Genotyping IRIDA patients help in predicting IRIDA severity and may be useful for predicting response to iron treatment. PMID:25156943

De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka



Sickle Cell Anemia: Iron Availability and Nocturnal Oximetry  

PubMed Central

Study Objective: To test the hypothesis that low iron availability, measured as transferrin saturation, is associated with low nocturnal hemoglobin oxygen saturation (SpO2) in children with homozygous sickle cell anemia (SCA; hemoglobin SS). Methods: This was a cross-sectional study of Tanzanian children with SCA who were not receiving regular blood transfusions. Thirty-two children (16 boys) with SCA (mean age 8.0, range 3.6-15.3 years) underwent motion-resistant nocturnal oximetry (Masimo Radical) and had steady state serum transferrin saturation and hematological indices assessed. Results: Higher transferrin saturation, adjusted for age and ?-thalassemia deletion, was associated with lower nocturnal mean SpO2 (p = 0.013, r2 = 0.41), number of SpO2 dips/h > 3% from baseline (p = 0.008, r2 = 0.19) and with min/h with SpO2 < 90% (p = 0.026 r2 = 0.16). Transferrin saturation < 16% (indicative of iron deficiency) was associated with a 2.2% higher nocturnal mean SpO2. Conclusions: Contrary to our hypothesis, higher iron availability, assessed by transferrin saturation, is associated with nocturnal chronic and intermittent hemoglobin oxygen desaturation in SCA. Whether these associations are causal and are driven by hypoxia-inducible factor and hepcidin-mediated upregulation of demand for iron warrants further investigation. Citation: Cox SE; L'Esperance V; Makani J; Soka D; Prentice AM; Hill CM; Kirkham FJ. Sickle cell anemia: iron availability and nocturnal oximetry. J Clin Sleep Med 2012;8(5):541-545. PMID:23066366

Cox, Sharon E.; L'Esperance, Veline; Makani, Julie; Soka, Deogratius; Prentice, Andrew M.; Hill, Catherine M.; Kirkham, Fenella J.



Complications of HIV: lipodystrophy, anemia, renal, cardiovascular, and bone diseases.  


Diagnosis of a human immunodeficiency virus (HIV) infection has long been associated with a short life expectancy, with care centered on the treatment and prevention of opportunistic infections and symptom management. As progress has been made through better understanding of the virus, and improved medications and treatments, persons with HIV are living longer, more productive lives. In addition to the scientific breakthroughs in treating the HIV-infected patient, more is also being learned about the long-term effects of the treatments and the virus, such as lipodystrophy syndrome. Comorbid diseases are also becoming more common in patients with HIV, such as anemia, bone disease, renal disease, and cardiac disease, which may be the result of metabolic complications or HIV itself. There is a vast array of comorbid diseases and adverse effects of medications in persons with HIV disease; and information regarding these issues is constantly changing as research continues to show more about their pathophysiology and treatment options. The most common comorbid disorders will be explored. A detailed explanation of the lipodystrophy syndrome and its common metabolic manifestations will be presented, including current research. In addition, the etiology, clinical findings, diagnosis, and treatment of the most common comorbid diseases associated with anemia and the bone, renal, and cardiovascular systems will be presented as they relate to the HIV-infected patient. All of the descriptions are designed for the primary care provider, who may be in contact with an HIV-infected patient whose differential diagnoses consist of one or more of these disorders. PMID:11889688

Balt, C A; Nixon, H



Severe iron-deficiency anemia still an issue in toddlers.  


Background and Objectives. Chronic, severe iron-deficiency anemia (IDA) in the first years of life increases the risk of irreversibly compromised cognitive, affective, and motor development. While IDA in infants has decreased because of dietary changes (iron-fortified formula and delaying cow's milk), toddlers (13-36 months) are equally vulnerable to the adverse effects of IDA. We aimed to show that despite public health efforts, severe IDA remains a problem in toddlers and is associated with excess milk consumption. Methods. Retrospective chart review of children 6 to 36 months admitted to or evaluated by hematology at a children's hospital from January 1, 2005 to December 31, 2010 with a severe microcytic anemia (hemoglobin [Hb] <9 g/dL and mean corpuscular volume (MCV) <75 fL). Results. We identified 68 infants and toddlers with severe IDA; most (84%) were 13 to 36 months old. The mean Hb and MCV were 6.0 g/dL (range = 2.2-8.9 g/dL) and 54.0 fL (range = 45.5-69.8 fL), respectively. Fatigue, poor appetite, and pica were the most common symptoms, found in 43%, 29%, and 22% of patients, respectively. Only 41% of parents reported pale skin while 77% of physicians recorded it on physical exam. Daily cow's milk consumption surpassed 24 ounces for 47 of 48 children with reported intake; 11 consumed more than 64 ounces per day. Conclusions. Despite current screening recommendations, severe IDA continues to be a problem in toddlers and strongly correlates with excess cow's milk consumption. This reiterates the importance of screening for IDA into routine toddler care. PMID:24990367

Paoletti, Gabrielle; Bogen, Debra L; Ritchey, A Kim



Evidence for a susceptibility gene (SLEH1) on chromosome 11q14 for systemic lupus erythematosus (SLE) families with hemolytic anemia  

PubMed Central

Hemolytic anemia is a forme fruste of systemic lupus erythematosus (SLE), being observed months or even years before the onset of other clinical manifestations in some patients. We hypothesized that hemolytic anemia in those SLE-affected patients would identify a group of SLE pedigrees that share a high degree of genetic homogeneity. From 160 multiplex SLE pedigrees, we sought evidence for linkage in 35 (16 African-American, 17 European-American, and 2 Hispanic) who had at least one SLE-affected patient with hemolytic anemia. Significant linkage was present at 11q14 in the 16 African-American pedigrees, yielding a maximum two-point logarithm of odds (LOD) score of 4.5 at D11S2002. The segregation pattern of SLE in these African-American pedigrees suggested a dominant mode of inheritance and, when maximized across penetrance and disease allele frequencies, produced a multipoint LOD of 4.7. Multipoint analysis yielded a multipoint heterogeneity LOD score of 3.6 (? = 0.63), again with maximum LOD at D11S2002. Finally, markers typed 7 centimorgans to either side of D11S2002 achieved LOD scores of 3 or better by using the maximized model, supporting linkage to 11q14. Clearly, pedigree ascertainment based on select clinical manifestations is an important tool, capable of revealing otherwise cryptic genetic linkages in complex genetic diseases. Thus, we show strong evidence for an SLE susceptibility gene, SLEH1, near D11S2002 in African-American pedigrees multiplex for SLE that have at least one SLE-affected patient with hemolytic anemia. PMID:12192084

Kelly, Jennifer A.; Thompson, Kevin; Kilpatrick, Jeff; Lam, Tom; Nath, Swapan K.; Gray-McGuire, Courtney; Reid, Jeff; Namjou, Bahram; Aston, Christopher E.; Bruner, Gail R.; Scofield, R. Hal; Harley, John B.



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


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

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



Iron-Deficiency Anemia Leading to Transient Ischemic Attacks due to Intraluminal Carotid Artery Thrombus  

PubMed Central

Reactive thrombocytosis secondary to iron-deficiency anemia (IDA) is a rare but recognized cause of stroke. We report the case of a patient with iron-deficiency anemia presenting with multiple transient ischemic attacks (TIA) due to intraluminal thrombus of an internal carotid artery. The putative mechanisms underlying anemia and stroke syndromes are not completely understood, and it is believed that iron deficiency may cause ischemic stroke by several potential mechanisms. Thrombocytosis is often associated with iron deficiency, and microcytosis produces a reduction in the red cell deformability and could produce a hypercoagulable state. The platelet count and function observed in iron-deficiency anemia could act synergistically to promote thrombus formation, especially in the setting of an underlying atherosclerotic disease. The presence of floating thrombus in a patient with clinical and MRI evidence of stroke represents a significant therapeutic dilemma and requires immediate decision about treatment. PMID:24109530

Batur Caglayan, H. Z.; Nazliel, B.; Irkec, C.; Dumlu, A.; Filiz, A.; Panpalli Ates, M.



Uncommon sites of bone infarction in a sickle cell anemia patient  

Microsoft Academic Search

Unusual sites of bone infarction, in the skull and sternum, were observed in a patient suffering from sickle cell anemia. A 99mTc-MDP scan was performed and demonstrated foci of decreased activity in the symptomatic regions.

I. Garty; A. Koren; E. Katzumi



Epoetin Alfa in Treating Anemia in Patients Who Are Receiving Chemotherapy

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



Plummer-Vinson syndrome associated with chronic blood loss anemia and large diaphragmatic hernia  

Microsoft Academic Search

The coexistence of large diaphragmatic hernia and Plummer-Vinson syndrome in two patients is described. It is proposed that the hernias caused chronic blood loss anemia, and that iron deficiency then resulted in postcricoid web formation.

Dordaneh Maleki; Alan J Cameron



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

ERIC Educational Resources Information Center

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)

Fox, Marty; Gaynor, John J.



Open Access A case of primary biliary cirrhosis associated with pernicious anemia: a case report  

E-print Network

Primary biliary cirrhosis is often associated with autoimmune diseases. However, its association with pernicious anemia has rarely been reported. We report a case of a 68-year-old woman who presented jaundice and pruritus. Mildly elevated serum levels of alkaline phosphatase and g-glutamyl transpeptidase were detected. The titer of anti-mitochondrial M2 anti-body was elevated. Histology of liver biopsy showed features of primary biliary cirrhosis. In addition, aregenerative macrocytic anemia was found in the full blood count. The diagnosis of pernicious anemia was established by megaloblastosis in bone marrow, atrophic gastritis without Helicobacter pylori, low level of vitamin B12 and good response to treatment regimen of vitamin B12. The association of primary biliary cirrhosis and pernicious anemia is unlikely to be casual and may be explained by autoimmune mechanism commonly shared by the diseases.

Case Report; Elhem Ben Jazia; Mabrouk Khalifa; Atef Ben Abdelkader; Naoufel Kaabia; Neirouz Ghannouchi; Ahlem Braham; Amel Letaief; Fethi Bahri


Anemia due to coadministration of renin-angiotensin-system inhibitors and PPAR? agonists in uncomplicated diabetic patients.  


Therapy with either angiotensin converting enzyme inhibitors and angiotensin receptor blockers (ACEI/ARB) or thiazolidinediones (TZD) is associated with dose-dependent decrements in hematocrit and hemoglobin levels. We aimed to investigate the impact of the coadministration of TZD and ACEI/ARB on hematocrit and hemoglobin values in uncomplicated patients with type 2 diabetes mellitus and normal serum creatinine.Data from patients with type 2 diabetes currently followed, were reviewed and patients treated with ACEI/ARB and/or TZD were identified. For the purpose of this study the following 4 groups of 30 stable non-anemic diabetic patients each matched for age, gender, and BMI were formed. Group ACEI/ARB included patients on ACEI/ARB without TZD, group TZD included patients on TZD and antihypertensive agents other than ACEI/ARB, group ACEI/ARB/TZD consisted of patients on combined therapy with ACEI/ARB and TZD and the control group C included patients never exposed to ACEI/ARB or TZD. Clinical and laboratory data were collected prior to initiation of treatment and after 6 months.Neither hematocrit nor hemoglobin showed any significant change from baseline at the end of the study in group C. In both group ACEI/ARB and group TZD a small, but statistically significant reduction in hematocrit (~ 1% point) and hemoglobin levels (~ 0.3 g/dl) was seen. A greater statistically and clinically important reduction in hematocrit (~ 3% points) and hemoglobin (~ 1 g/dl) levels was observed in group ACEI/ARB/TZD. Furthermore, incident anemia at the end reached 7% in group TZD and 23% in group ACEI/ARB/TZD.Coadministration of RAS inhibitors and PPAR-? agonists should be considered in the differential diagnosis of hematocrit lowering and anemia in uncomplicated type 2 diabetic patients with normal serum creatinine. Further studies are required to clarify the mechanism(s), the cardiovascular consequences and the cost utility of anemia workup in such patients. PMID:22441720

Raptis, A E; Bacharaki, D; Mazioti, M; Marathias, K P; Markakis, K P; Raptis, S A; Dimitriadis, G D; Vlahakos, D V



Aortic valve replacement for a patient with glucose-6-phosphate dehydrogenase deficiency and autoimmune hemolytic anemia.  


Autoimmune hemolytic anemia and deficiency of glucose-6-phosphate deyhdrogenase (G6PD) result in severe hemolysis with different mechanisms. In patients with both pathologies, the effects of cardiopulmonary bypass on red blood cells and thrombocytes demand special care before and after open heart surgery. We evaluated the preoperative management and postoperative care of a patient with severe aortic insufficiency associated with G6PD deficiency and autoimmune hemolytic anemia who underwent aortic valve replacement. PMID:15985145

Tas, Serpil; Donmez, Arzu Antal; Kirali, Kaan; Alp, Mete H; Yakut, Cevat



Behavioral and Developmental Effects of Preventing Iron-Deficiency Anemia in Healthy Full-Term Infants  

Microsoft Academic Search

Objective. To determine the behavioral and developmental effects of preventing iron-deficiency anemia in infancy. Methods. Healthy full-term Chilean infants who were free of iron-deficiency anemia at 6 months were assigned to high- or low-iron groups or to high- or no- added-iron groups. Behavioral\\/developmental outcomes at 12 months of age included overall mental and motor test scores and specific measures of

Betsy Lozoff; Isidora De Andraca; Marcela Castillo; Julia B. Smith; Tomas Walter; Paulina Pino



Hemolytic-Anemia-Associated Pulmonary Hypertension: Sickle-Cell-Disease- and Thalassemia-Associated Pulmonary Hypertension  

Microsoft Academic Search

\\u000a Pulmonary hypertension (PH) is now recognized as a complication of both chronic and acquired hemolytic anemias. The process\\u000a of hemolysis appears to be central to disease pathogenesis. Sickle cell disease (SCD), a congenital hemoglobinopathy affecting\\u000a as many as 30 million individuals worldwide, is the best characterized hemolytic anemia associated with PH. Multiple clinical\\u000a studies have demonstrated a 10–30% prevalence of

Elizabeth S. Klings; Mark T. Gladwin


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

SciTech Connect

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.

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



Platelet activation and platelet-erythrocyte aggregates in patients with sickle cell anemia  

Microsoft Academic Search

Vascular occlusion and vasculopathy underlie much of the morbidity in patients with sickle cell anemia. Platelets may play a role in this vasculopathy. Samples from 12 adult patients with sickle cell anemia were examined for evidence of platelet activation and formation of platelet-erythrocyte aggregates (PEA) using fluorescent-labeled monoclonal antibodies and flow cytometry. We noted an increased expression of activation-dependent antigens

Ted Wun; Teresa Paglieroni; Fern Tablin; Jeanna Welborn; Karen Nelson; Anthony Cheung



A Randomized Trial of Captopril for Microalbuminuria in Normotensive Adults with Sickle Cell Anemia  

Microsoft Academic Search

Purpose: Nephropathy is a common complication of sickle cell anemia and is often preceded by proteinurea. Our aim was to evaluate the effect of angiotensin-converting enzyme inhibition on microalbuminuria in sickle cell patients.Patients and Methods: We performed a randomized, double-blind, placebo-controlled trial in 22 normotensive patients with sickle cell anemia and persistent microalbuminuria. Patients received captopril (25 mg\\/day) or placebo

Lydia Foucan; Veronique Bourhis; Jaqueline Bangou; Lydia Mérault; Maryse Etienne-Julan; Rachid L Salmi



Plasma levels of tocopherol in sickle cell anemia subjects1'2  

Microsoft Academic Search

Plasma tocopherol levels of less than 0.8 ?g\\/g lipid were considered indicative of a vitamin E-deficient status. Based on this criterion, 10 out of 13 sickle cell anemia patients who were not in crisis, were considered deficient in vitamin E as compared to none of 24 normal control subjects. Sickle cell anemia patients treated with 150 IU vitamin E (dl-a-tocopheryl

Clayton Natta; Lawrence Machlin


Immunosuppressive Treatment of Acquired Aplastic Anemia and Immune-Mediated Bone Marrow Failure Syndromes  

Microsoft Academic Search

Modern therapeutic strategies for the treatment of acquired aplastic anemia are based on the current understanding of its\\u000a pathophysiology as well as empiric observations. Most cases of aplastic anemia appear to be the result of immune-mediated\\u000a destruction of hematopoietic cells, which can be approached by stem cell transplantation in younger patients with appropriate\\u000a histocompatible donors or by immunosuppression to reduce

Neal S. Young; Hematology Branch



Associations between renal impairment and anemia in older, rural Japanese men: the Nagasaki Island study  

PubMed Central

Background Renal impairment is known to be associated with atherosclerosis, which in turn is reported to be positively associated with hemoglobin levels. In addition, renal impairment is known to be associated with a form of anemia known as renal anemia. Methods To clarify the associations between renal impairment and anemia, we conducted a cross-sectional study of 1,105 60 to 89-year-old men, who were not taking medication for anemia and were undergoing general health check-ups. Results Compared with non-chronic kidney disease, chronic kidney disease (CKD) with a glomerular filtration rate (GFR) <60 mL/min/1.73 m2 was found to constitute a significant risk of anemia. However, we noted that this risk was lower for mild renal impairment (60 mL/min/1.73 m2???GFR <90 mL/min/1.73 m2). Compared with the non-CKD reference group, the classical cardiovascular risk factors adjusted odds ratio (OR) for anemia was 1.81 (1.23 to 2.68) and compared with the normal renal function (GFR ?90 mL/min/1.73 m2) reference group, the ORs for mild renal impairment and CKD were 0.26 (0.15 to 0.47) and 0.60 (0.33 to 1.09). Conclusions Independent from classical cardiovascular risk factors, CKD, which was identified during general health check-ups, appeared to constitute a significant risk of anemia for older Japanese men. For mild renal impairment, however, this association was a reduced risk of anemia and thus possibly a higher risk of atherosclerosis. PMID:24742197



A study of serum proteins from horses infected with equine infectious anemia virus  

E-print Network

of MASTER OF SCZENCE Flay 1972 Major Subject: Veterinary Microbiolo'y A STUDY OF SERUM PROTEINS FROM HORSES INFECTED NITH EQUINE ZNFECTIOUS ANEMIA VIRUS A Thesis THOMAS MURZLL FOLKS Approved as to style and content by: o. (Chairman of Committee...) (Head of' Department) (Member) (Member) (Member) (Member) (Member) May 1972 ABS RAUT . ', Study of Serum Proteins from Horses Infected with Equine Infectious Anemia Virus. (May 1972) Thomas Murill Folks, B. A. , Univer- sity oz" Texas at Austin...

Folks, Thomas Murill



A study of the pathogenesis of equine infectious anemia by fluorescent antibody techniques  

E-print Network

A STUDY OF THE PATHOGENESIS OF EQUINE INFECTIOUS ANEMIA BY FLUORESCENT ANTIBODY TECHNIQUES A Thesis By DAVID EUGENE MOREMAN Submitted to the Graduate College of the Texas A6 M University in partial fulfillment of the requirements... for the degree of MASTER OF SCIENCE January 1968 Major Subject: Veterinary Microbiology A STUDY OF THE PATHOGENESIS OF EQUINE INFECTIOUS ANEMIA BY FLUORESCENT ANTIBODY TECHNIQUES A Thesis By DAVID EUGENE MOREMAN Approved as to style and content by: , M...

Moreman, David Eugene



[The Herbst triad: finger clubbing, hypoproteinemia and iron deficiency anemia associated with gastroesophageal reflux].  


Gastroesophageal reflux with hiatal hernia has been associated with unusual presentations, including rumination syndrome, Sandifer syndrome (reflux esophagitis, iron deficiency anemia and head cocking) and the Herbst triad (iron deficiency anemia, hypoproteinemia and finger clubbing). We report a new case of this rare disease. Lack of awareness of gastroesophageal reflux as a possible cause of these striking symptoms could lead to complications and delayed surgery. PMID:17517207

Guerrero Vázquez, J; Guerrero Fernández, J; García Ascaso, M T; De Paz Aparicio, P; Luengo Casasola, J L



High prevalence of atrophic body gastritis in patients with unexplained microcytic and macrocytic anemia  

Microsoft Academic Search

OBJECTIVE:Atrophic body gastritis (ABG) is characterized by atrophy of the gastric body mucosa, hypergastrinemia, and hypo\\/achlorhydria. Its association with pernicious anemia is well recognized. Gastric hypo\\/achlorhydria is known to affect iron absorption but ABG is rarely considered as a possible cause of iron deficiency (microcytic) anemia. The aims of this study were to validate a screening methodology for the detection

M. Marignani; G. Delle Fave; S. Mecarocci; C. Bordi; S. Angeletti; G. D'Ambra; M. R. Aprile; V. D. Corleto; B. Monarca; B. Annibale



Pancytopenia, including macrocytic anemia, associated with leflunomide in a rheumatoid arthritis patient  

Microsoft Academic Search

A female rheumatoid arthritis patient was admitted for productive cough and general fatigue that had gradually developed after\\u000a leflunomide therapy. Side effects including severe hypoxia, thrombocytopenia, lymphocytopenia, and macrocytic anemia with\\u000a schistocytes (probably drug-induced megaloblastic anemia) were noted. Leflunomide-eliminating cholestyramine therapy successfully\\u000a treated all conditions excluding severe hypoxia, which occurred owing to deteriorating interstitial pneumonia and complicated\\u000a bacterial pneumonia following

Yasuhiko Toyokawa; Isamu Kingetsu; Chiho Yasuda; Jun Yasuda; Ken Yoshida; Daitaro Kurosaka; Akio Yamada



Anemia in the general population: prevalence, clinical correlates and prognostic impact.  


Low hemoglobin concentration is associated with increased mortality, but there is disagreement with regard to the clinical definition of anemia. We aimed to evaluate the prevalence, clinical correlates and association with total and cause-specific long-term mortality across the hemoglobin distribution and for previously proposed definitions of anemia. Blood hemoglobin concentration and mean corpuscular volume was measured in participants of the Malmö diet and cancer study-a prospective cohort study, and related to baseline characteristics and outcomes during follow-up. Primary endpoints were all-cause mortality, cardiovascular mortality and cancer-related mortality. A U-shaped association of hemoglobin with total mortality was observed in spline regression analyses, with nadir at hemoglobin 150 g/L among men and 130 g/L among women. Mortality increased steeply with more strict definitions of anemia, hazard ratio: 1.36, 1.94 and 2.16 for hemoglobin <140/130 (men/women), 132/122 and 130/120 g/L, respectively. Similar trends were seen for both cancer- and cardiovascular mortality. The incidence of coronary disease and cancer did not differ across groups. Erythrocyte volume was an independent predictor of mortality, with the highest mortality observed for macrocytic anemia, which was less prevalent than microcytic and normocytic anemia. Dietary intake of iron and vitamin B12 were significantly lower and use of antithrombotic medications was significantly higher in subjects with anemia. The World Health Organisation definition of anemia was associated with increased mortality (hazard ratio 2.16) but excess mortality was also observed at higher hemoglobin levels. Of morphological subtypes, anemia with macrocytosis was rare but associated with the highest mortality. PMID:24952166

Martinsson, Andreas; Andersson, Charlotte; Andell, Pontus; Koul, Sasha; Engström, Gunnar; Smith, J Gustav



What is the optimal treatment for anemia in inflammatory bowel disease?  


Anemia is common in inflammatory bowel disease (IBD), with a prevalence ranging from 8.8% to 73.7%. This wide range reflects the definitions used and the populations studied. Although many patients are reported to be asymptomatic, systematic studies have shown anemia to have a significant impact on quality of life. Consequently treatment should be instituted early. The commonest cause of anemia in IBD is iron deficiency, predominantly related to gastrointestinal blood loss. Anemia of chronic disease often occurs concomitantly, due to cytokine-mediated impaired erythropoiesis and dysregulated iron metabolism. Oral iron is a simple and effective method for treating iron deficiency, but requires long courses of treatment. It is also theoretically implicated with worsening intestinal inflammation, via the production of toxic reactive oxygen species. Intravenous iron avoids these concerns, especially with the development of ferric carboxymaltose, which allow up to 1000mg to be given rapidly. In patients failing to respond to intravenous iron, the anemia of chronic disease is most likely to be causative. In this setting evidence suggests that additional erythropoietin therapy can be effective. Blood transfusions should be avoided as part of routine management and reserved for patients with substantial acute gastro-intestinal bleeding, where there is a risk of hemodynamic compromise. This article discusses the underlying physiology of anemia in IBD, and presents the current evidence supporting treatment options available. PMID:22023204

Kent, Alexandra J; Blackwell, Victoria J; Travis, Simon P L



Women presenting to an emergency facility with abnormal uterine bleeding: Patient characteristics and prevalence of anemia  

PubMed Central

Objective(s) (1) To describe the population of women seeking urgent medical attention for abnormal uterine bleeding (AUB), in terms of symptoms, medical history, and clinical examination findings, and (2) To determine characteristics associated with anemia in this population. Study Design We performed a retrospective cohort study of patients seen in the Women and Infants Hospital Emergency Room for AUB from August 2005 to February 2006 (n=378). Data collected included demographic factors, clinical history, physical examination findings, and laboratory and radiologic findings. We calculated prevalence ratios for moderate to severe anemia (defined as hemoglobin less than 10 g/dL) and sensitivity and specificity of clinical characteristics for identifying women with anemia. Results The median age of patients was 32 years (range 12–72 years). Approximately half (49.2%) had a concurrent medical condition which could affect their treatment options and 14% had moderate to severe anemia. The only factors associated with moderate to severe anemia were (1) having both tachycardia and hypotension and (2) duration of bleeding more than 7 days (3) hemoglobin of less than 10 g/dL in the previous year. Conclusions A substantial proportion of patients seeking urgent medical attention for AUB had potential contraindications for the mainstays of treatment. Clinical symptoms and bleeding history were poorly predictive for moderate to severe anemia in this population of women. PMID:22324263

Matteson, Kristen A.; Raker, Christina A.; Pinto, Stephanie B.; Scott, Dana Marie; Frishman, Gary N.



Copper-deficiency anemia after esophagectomy: A pitfall of postoperative enteral nutrition through jejunostomy  

PubMed Central

INTRODUCTION Copper deficiency leads to functional disorders of hematopoiesis and neurological system. There have been some reports of copper deficiency occurring to the patients on enteral nutrition through a jejunostomy in long-term-care hospitals. However, it is extremely rare to find patients with copper deficiency several months after esophagectomy, regardless of enteral nutrition through the jejunostomy. To the best of our knowledge, this is the first case report of a patient who experienced copper-deficiency anemia after esophagectomy and subsequent enteral nutrition through the jejunostomy. PRESENTATION OF CASE A 73-year-old man presented with pulmonary failure after esophagectomy for esophageal cancer with video-assisted thoracoscopic surgery, and needed long-term artificial ventilator support. Nutritional management included enteral nutrition through a jejunostomy from the early postoperative period. Copper-deficiency anemia was detected 3 months postoperatively; therefore, copper supplementation with cocoa powder was performed, and both serum copper and hemoglobin levels subsequently recovered. DISCUSSION Copper-deficiency anemia has already been reported to occur in patients receiving enteral nutrition in long-term care hospitals. However, this is the first case report of copper deficiency after esophagectomy despite administration of standard enteral nutrition through the jejunostomy for several months. CONCLUSION It is extremely rare to find copper-deficiency anemia several months after esophagectomy followed by enteral nutrition through the jejunostomy. However, if anemia of unknown origin occurs in such patients, copper-deficiency anemia must be considered among the differential diagnoses. PMID:24794023

Nakagawa, Masatoshi; Nagai, Kagami; Minami, Isao; Wakabayashi, Mai; Torigoe, Junko; Kawano, Tatsuyuki



Predictive factors for anemia within the first year after orthotopic liver transplantation.  


We sought to determine the prevalence and predictive factors for posttransplant anemia within the first year after orthotopic liver transplant (OLT) among 97 consecutive patients. Anemia was defined at months 6 and 12 according to the WHO criteria, that is, a hemoglobin (Hb) level of <12 g/dL for women and <13 g/dL for men. Immunosuppression relied on tacrolimus and steroids, with or without mycophenolate mofetil. Anemia was present in 64.5%, 50%, and 52.8% of patients pre-OLT versus 6 and 12. Thirty-three percent (month 6) and 30.3% (month 12) of anemic patients received recombinant erythropoietin therapy. A multivariate analysis revealed that the independent predictive factors for anemia at month 6 were mean corpuscular volume (<85 fL) at day 7, daily steroid dosage (<0.3 mg/kg), serum creatinine (>130 mumol/L), and Hb level (<11 g/dL) at month 1. Independent predictive factors for anemia at month 12 were daily steroid dosage at month 1 (<0.3 mg/kg), hematocrit at month 1 (<33%), red blood cell count at month 6 (<3.75 T/L), daily dosage at month 1 of cyclosporine or tacrolimus, and etiology of end-stage liver disease other than alcohol abuse. We concluded that anemia was highly prevalent within the first year of post-OLT. This observation deserves further investigation and appropriate treatment. PMID:16980085

Guitard, J; Ribes, D; Kamar, N; Muscari, F; Lavayssière, L; Suc, B; Esposito, L; Perron, J-M; Rostaing, L



Transfusion effects on cardiomyocyte growth and proliferation in fetal sheep following chronic anemia  

PubMed Central

Chronic fetal anemia results in significant cardiac remodeling. The capacity to reverse these effects is unknown. We examined the effects of transfusion on cardiomyocyte adaptations following chronic anemia in fetal sheep subjected to daily hemorrhage beginning at 109d gestation age (GA; term ?145d). Following 10 days of anemia, one group was euthanized for comparison to age-matched controls. A separate group of anemic fetuses was transfused with red blood cells at 119d GA for comparison to controls at 129d GA. Anemia significantly increased the heart-to-body weight ratio, an effect partially ameliorated following transfusion. Cardiomyocyte dimensions were similar among all groups, suggesting an absence of hypertrophy. The percentages of mono- and binucleated cardiomyocytes were similar between groups at 119d GA, though the percentage of binucleated cells was significantly less in transfused fetuses compared to controls at 129d GA. Protein levels of mitogen activated protein kinases and protein kinase B were similar between controls and their respective intervention groups, except for a significant increase in phosphorylated c-Jun N-terminal kinase 1/2 (JNK1/2) in transfused fetuses. Thus, cardiomyocyte proliferation but not hypertrophy contributes to cardiac enlargement during fetal anemia. Transfusion results in slowing but not cessation of cardiac growth following anemia. PMID:21386752

Jonker, Sonnet S.; Scholz, Thomas D.; Segar, Jeffrey L.



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


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

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



UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation.  


The Fanconi anemia pathway is required for the efficient repair of damaged DNA. A key step in this pathway is the monoubiquitination of the FANCD2 protein by the ubiquitin ligase (E3) composed of Fanconi anemia core complex proteins. Here, we show that UBE2T is the ubiquitin-conjugating enzyme (E2) essential for this pathway. UBE2T binds to FANCL, the ubiquitin ligase subunit of the Fanconi anemia core complex, and is required for the monoubiquitination of FANCD2 in vivo. DNA damage in UBE2T-depleted cells leads to the formation of abnormal chromosomes that are a hallmark of Fanconi anemia. In addition, we show that UBE2T undergoes automonoubiquitination in vivo. This monoubiquitination is stimulated by the presence of the FANCL protein and inactivates UBE2T. Therefore, UBE2T is the E2 in the Fanconi anemia pathway and has a self-inactivation mechanism that could be important for negative regulation of the Fanconi anemia pathway. PMID:16916645

Machida, Yuichi J; Machida, Yuka; Chen, Yuefeng; Gurtan, Allan M; Kupfer, Gary M; D'Andrea, Alan D; Dutta, Anindya



Dyserythropoiesis, polymyopathy, and cardiac disease in three related English springer spaniels.  


A polysystemic disorder was observed in three related English Springer Spaniel dogs that demonstrated regurgitation from an early age, slowly progressive temporal muscle atrophy with partial trismus, and less pronounced generalized skeletal muscle atrophy. All dogs exhibited moderate dyserythropoietic anemia, polymyopathy with megaesophagus, and varying degrees of cardiomegaly. The prevalence, etiology, underlying pathomechanism, and possible mode of inheritance remain to be elucidated. PMID:1920252

Holland, C T; Canfield, P J; Watson, A D; Allan, G S



Global and disease-associated genetic variation in the human Fanconi anemia gene family.  


Fanconi anemia (FA) is a human recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes. Individuals with FA are at high risk of developmental abnormalities, early bone marrow failure and leukemia. These are followed in the second and subsequent decades by a very high risk of carcinomas of the head and neck and anogenital region, and a small continuing risk of leukemia. In order to characterize base pair-level disease-associated (DA) and population genetic variation in FANC genes and the segregation of this variation in the human population, we identified 2948 unique FANC gene variants including 493 FA DA variants across 57 240 potential base pair variation sites in the 16 FANC genes. We then analyzed the segregation of this variation in the 7578 subjects included in the Exome Sequencing Project (ESP) and the 1000 Genomes Project (1KGP). There was a remarkably high frequency of FA DA variants in ESP/1KGP subjects: at least 1 FA DA variant was identified in 78.5% (5950 of 7578) individuals included in these two studies. Six widely used functional prediction algorithms correctly identified only a third of the known, DA FANC missense variants. We also identified FA DA variants that may be good candidates for different types of mutation-specific therapies. Our results demonstrate the power of direct DNA sequencing to detect, estimate the frequency of and follow the segregation of deleterious genetic variation in human populations. PMID:25104853

Rogers, Kai J; Fu, Wenqing; Akey, Joshua M; Monnat, Raymond J



Fanconi anemia signaling and Mus81 cooperate to safeguard development and crosslink repair  

PubMed Central

Individuals with Fanconi anemia (FA) are susceptible to bone marrow failure, congenital abnormalities, cancer predisposition and exhibit defective DNA crosslink repair. The relationship of this repair defect to disease traits remains unclear, given that crosslink sensitivity is recapitulated in FA mouse models without most of the other disease-related features. Mice deficient in Mus81 are also defective in crosslink repair, yet MUS81 mutations have not been linked to FA. Using mice deficient in both Mus81 and the FA pathway protein FancC, we show both proteins cooperate in parallel pathways, as concomitant loss of FancC and Mus81 triggered cell-type-specific proliferation arrest, apoptosis and DNA damage accumulation in utero. Mice deficient in both FancC and Mus81 that survived to birth exhibited growth defects and an increased incidence of congenital abnormalities. This cooperativity of FancC and Mus81 in developmental outcome was also mirrored in response to crosslink damage and chromosomal integrity. Thus, our findings reveal that both pathways safeguard against DNA damage from exceeding a critical threshold that triggers proliferation arrest and apoptosis, leading to compromised in utero development. PMID:25056314

Larin, Meghan; Gallo, David; Tamblyn, Laura; Yang, Jay; Liao, Hudson; Sabat, Nestor; Brown, Grant W.; McPherson, J. Peter



Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia  

PubMed Central

Concurrent emergence of nephroblastoma (Wilms Tumor; WT) and neuroblastoma (NB) is rare and mostly observed in patients with severe subtypes of Fanconi anemia (FA) with or without VACTER-L association (VL). We investigated the hypothesis that early consequences of genomic instability result in shared regions with copy number variation in different precursor cells that originate distinct embryonal tumors. We observed a newborn girl with FA and VL (aplasia of the thumbs, cloacal atresia (urogenital sinus), tethered cord at L3/L4, muscular ventricular septum defect, and horseshoe-kidney with a single ureter) who simultaneously acquired an epithelial-type WT in the left portion of the kidney and a poorly differentiated adrenal NB in infancy. A novel homozygous germline frameshift mutation in PALB2 (c.1676_c1677delAAinsG) leading to protein truncation (pGln526ArgfsX1) inherited from consanguineous parents formed the genetic basis of FA-N. Spontaneous and induced chromosomal instability was detected in the majority of cells analyzed from peripheral lymphocytes, bone marrow, and cultured fibroblasts. Bone marrow cells also showed complex chromosome rearrangements consistent with the myelodysplastic syndrome at 11 months of age. Array-comparative genomic hybridization analyses of both WT and NB showed shared gains or amplifications within the chromosomal regions 11p15.5 and 17q21.31-q25.3, including genes that are reportedly implicated in tumor development such as IGF2, H19, WT2, BIRC5, and HRAS. PMID:23112754

Serra, A.; Eirich, K.; Winkler, A.K.; Mrasek, K.; Gohring, G.; Barbi, G.; Cario, H.; Schlegelberger, B.; Pokora, B.; Liehr, T.; Leriche, C.; Henne-Bruns, D.; Barth, T.F.; Schindler, D.



[Guidelines for the treatment of anemia in chronic renal failure].  


Evaluation of anemia: Before beginning epoetin treatment, it is essential to evaluate the level of anemia (Hb < 11-12g/dL) by the following measurements: -Hb concentration -Red blood cell indices (MCV, MCH, MCHC) -Reticulocyte count -Iron stores and availability -C-reactive protein (CRP) Target for anemia treatment: The minimum target Hb concentration to be attained is 11 g/dL. The upper limit is established individually on a clinical basis. Pending further data, it is advisable to maintain and not exceed 12 g/dL for patients with cardiovascular disease, diabetes, and graft access. Use of iron: At the start of epoetin treatment, 150 mg of iron are needed for every expected increase of 1 g/dL of Hb. It is important to achieve and maintain levels of TSAT > 20%, serum ferritin 100 mcg/L and hypochromic red cells > 6% both before initiating epoetin treatment and during its administration. TSAT levels should not persistently exceed > 50% and serum ferritin > 500 mcg/L. When administering oral iron the dose should be at least 200 mg/die elemental iron; on the other hand, when the intravenous route is used, the dose should be 30-60 mg/IV dose in the form of low molecular weight salts (iron sodium gluconate) while the higher doses should be reserved for patients with transferring levels > 170 mg/dL. Administration of epoetin: The dosage of epoetin is individual with more than tenfold variability among individuals and all aiming at the same target Hb concentration. There are no clinical parameters entirely capable of predicting the necessary dosage. Therapeutic range is very wide, without any toxic effects for clinical use up to 100.000 IU/week. The target Hb concentration is reached in most patients with mild anaemia after 2 months' treatment with 4.000-10.000 epoetin (20-50 mcg darbepoetin alpha) per week. The HB concentration, along with the reticulocyte count, must be checked weekly following initiation and monthly during maintenance. Patients with a stable dose-response during conservative therapy may require less frequent monitoring (every 2-3 months). Inadequate response to epoetin treatment If any resistance is encountered, after excluding all the acute and chronic conditions of inadequate response, the reticulocyte count (severe reduction in the presence of anti erythropoietin antibodies) and the erythropoietin dosage should be measured. The target Hb concentration 11-12 g/dL is maintained in 90-95% of the patients by administering 1.000-30.000 IU of epoetin (5-150 mcg darbepoetin alpha) per week in the presence of adequate reserves of iron. Higher dosages define a state of resistance. Diagnosis of pure red cell (PRCA) from anti-erythropoietin antibodies is confirmed by bone marrow examination (almost total loss of erythroblasts). If antierythropoietin antibodies are present or there is a well founded suspicion of PRCA, the administration of epoetin and other similar treatment should be avoided. Side effects of epoetin treatment: The treatment of anaemia with epoetin does not hasten the progression of CRF. Blood pressure is to be checked regularly during initiation of epoetin and the treatment should be discontinued in cases of refractory hypertension or hypertensive encephalopathy. There should be increased surveillance of graft access, especially in those patients who risk vascular depletion. In general, heparin requirements do not increase but it may be advisable to evaluate a dose increase. PRCA from anti-erythropoietin antibodies has been detected with an incidence ranging from 0.12 to 1.1 cases/every 10 thousand patients treated. PMID:14666504

Triolo, G



Preoperative anemia increases postoperative morbidity in elective cranial neurosurgery  

PubMed Central

Background: Preoperative anemia may affect postoperative mortality and morbidity following elective cranial operations. Methods: The American College of Surgeons National Surgical Quality Improvement Program (NSQIP) database was used to identify elective cranial neurosurgical cases (2006-2012). Morbidity was defined as wound infection, systemic infection, cardiac, respiratory, renal, neurologic, and thromboembolic events, and unplanned returns to the operating room. For 30-day postoperative mortality and morbidity, adjusted odds ratios (ORs) were estimated with multivariable logistic regression. Results: Of 8015 patients who underwent elective cranial neurosurgery, 1710 patients (21.4%) were anemic. Anemic patients had an increased 30-day mortality of 4.1% versus 1.3% in non-anemic patients (P < 0.001) and an increased 30-day morbidity rate of 25.9% versus 14.14% in non-anemic patients (P < 0.001). The 30-day morbidity rates for all patients undergoing cranial procedures were stratified by diagnosis: 26.5% aneurysm, 24.7% sellar tumor, 19.7% extra-axial tumor, 14.8% intra-axial tumor, 14.4% arteriovenous malformation, and 5.6% pain. Following multivariable regression, the 30-day mortality in anemic patients was threefold higher than in non-anemic patients (4.1% vs 1.3%; OR = 2.77; 95% CI: 1.65-4.66). The odds of postoperative morbidity in anemic patients were significantly higher than in non-anemic patients (OR = 1.29; 95% CI: 1.03-1.61). There was a significant difference in postoperative morbidity event odds with a hematocrit level above (OR = 1.07; 95% CI: 0.78-1.48) and below (OR = 2.30; 95% CI: 1.55-3.42) 33% [hemoglobin (Hgb) 11 g/dl]. Conclusions: Preoperative anemia in elective cranial neurosurgery was independently associated with an increased risk of 30-day postoperative mortality and morbidity when compared to non-anemic patients. A hematocrit level below 33% (Hgb 11 g/dl) was associated with a significant increase in postoperative morbidity.

Bydon, Mohamad; Abt, Nicholas B.; Macki, Mohamed; Brem, Henry; Huang, Judy; Bydon, Ali; Tamargo, Rafael J.



Duplex PCR assay for the detection of avian adeno virus and chicken anemia virus prevalent in Pakistan  

PubMed Central

Avian Adeno viruses and Chicken Anemia Viruses cause serious economic losses to the poultry industry of Pakistan each year. Timely and efficient diagnosis of the viruses is needed in order to practice prevention and control strategies. In the first part of this study, we investigated broilers, breeder and Layer stocks for morbidity and mortality rates due to AAV and CAV infections and any co-infections by examining signs and symptoms typical of their infestation or post mortem examination. In the second part of the study, we developed a duplex PCR assay for the detection of AAV and CAV which is capable to simultaneously detect both the viral types prevalent in Pakistan with high sensitivity and 100% specificity. PMID:21923956



Iron deficiency and anemia: disparity exists between children in American Samoa and children living within the US  

Microsoft Academic Search

Background\\/Objectives:Healthy People 2010 emphasizes elimination of health disparity and improvements in anemia and iron deficiency (ID). The study purpose was to (1) determine the prevalence of anemia, ID and ID anemia (IDA) in children living in American Samoa and (2) compare the prevalence to that found in children living in the United States.Subjects\\/Methods:A total of 211 children from American Samoa,

T M Kemmer; R Novotny; I Ah Ping



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

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



Fanconi Anemia Proteins and Their Interacting Partners: A Molecular Puzzle  

PubMed Central

In recent years, Fanconi anemia (FA) has been the subject of intense investigations, primarily in the DNA repair research field. Many discoveries have led to the notion of a canonical pathway, termed the FA pathway, where all FA proteins function sequentially in different protein complexes to repair DNA cross-link damages. Although a detailed architecture of this DNA cross-link repair pathway is emerging, the question of how a defective DNA cross-link repair process translates into the disease phenotype is unresolved. Other areas of research including oxidative metabolism, cell cycle progression, apoptosis, and transcriptional regulation have been studied in the context of FA, and some of these areas were investigated before the fervent enthusiasm in the DNA repair field. These other molecular mechanisms may also play an important role in the pathogenesis of this disease. In addition, several FA-interacting proteins have been identified with roles in these “other” nonrepair molecular functions. Thus, the goal of this paper is to revisit old ideas and to discuss protein-protein interactions related to other FA-related molecular functions to try to give the reader a wider perspective of the FA molecular puzzle. PMID:22737580

Kaddar, Tagrid; Carreau, Madeleine



Aplastic anemia associated with canthaxanthin ingested for 'tanning' purposes.  


Aplastic anemia with a fatal outcome occurred in a previously healthy young woman after ingesting canthaxanthin taken for the purpose of skin "tanning" and provided to her by a commercial tanning salon. Canthaxanthin is a synthetic, non-provitamin A carotenoid that is highly lipid-soluble; it colors the skin by deposition in the epidermis and subcutaneous fat. It is readily available through commercial tanning salons and mail advertisements, but despite advertising claims that it is harmless, investigation regarding the safety of oral doses of canthaxanthin in humans has not been conducted. It is not approved as a prescription or an over-the-counter preparation by the Food and Drug Administration. The drug's present means of distribution makes monitoring for toxic effects difficult. Thus, the frequency of adverse effects associated with canthaxanthin use, such as bone marrow suppression, is unknown. Even if there is only a small risk of these toxic effects, the use of the drug for cosmetic purposes does not justify this risk. PMID:2117075

Bluhm, R; Branch, R; Johnston, P; Stein, R



Pathogenesis of the Erythroid Failure in Diamond Blackfan Anemia  

PubMed Central

Diamond Blackfan anemia (DBA) is a severe congenital failure of erythropoiesis. Despite mutations in one of several ribosome protein genes, including RPS19, the cause of the erythroid specificity is still a mystery. We hypothesize that because the chromatin of late erythroid cells becomes condensed and transcriptionally inactive prior to enucleation, the rapidly proliferating immature cells require very high ribosome synthetic rates. We measured RNA biogenesis in primary mouse fetal liver erythroid progenitor cells; during the first 24 hours, cell number increases 3–4 fold while, remarkably, RNA content increases 6-fold, suggesting an accumulation of an excess of ribosomes during early erythropoiesis. Retrovirus infected siRNA RPS19 knockdown cells show reduced proliferation but normal differentiation, and cell cycle analysis shows a G1/S phase delay. p53 protein is increased in the knockdown cells, and the mRNA level for p21, a transcriptional target of p53, is increased. Furthermore, we show that RPS19 knockdown decreases MYB protein, and KIT mRNA is reduced, as is the amount of cell surface KIT protein. Thus, in this shRNA murine model of DBA, RPS19 insufficient erythroid cells may proliferate poorly because of p53 mediated cell cycle arrest, and also because of decreased expression of the key erythroid signaling protein KIT. PMID:19958353

Sieff, Colin A.; Yang, Jing; Merida-Long, Lilia B.; Lodish, Harvey F.



Developmental Function in Toddlers With Sickle Cell Anemia  

PubMed Central

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

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



Pagophagia improves neuropsychological processing speed in iron-deficiency anemia.  


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

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



Enzymatic diagnosis in non-spherocytic hemolytic anemia.  


Blood samples from 722 unrelated patients with anemia and/or reticulocytosis were submitted to our laboratory for red cell enzyme assay during the past 7 years. Among these 722 cases, we found 82 cases of 7 different red cell enzyme deficiencies and 2 of unstable hemoglobin. Abnormalities of pyruvate kinase (PK) were found to cause hemolysis in 55 patients. Although their average PK activity was about 35% of the normal level, 5 showed normal and 2 demonstrated high PK activity. Among 17 patients in whom pyruvate kinase assays or screening tests had been carried out in routine laboratories, the correct diagnoses had been made in only 4. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 15 patients, pyrimidine 5'-nucleotidase deficiency in 5, glucose phosphate isomerase deficiency in 3, adenylate kinase deficiency in 2, phosphoglycerate kinase deficiency in 1, and glutathione synthetase deficiency in 1 patient. Even after we performed a panel of over 20 different red cell enzyme assays, 519 patients still remained undiagnosed. PMID:3352512

Hirono, A; Forman, L; Beutler, E



Evidence for subcomplexes in the Fanconi anemia pathway.  


Fanconi anemia (FA) is a genomic instability disorder, clinically characterized by congenital abnormalities, progressive bone marrow failure, and predisposition to malignancy. Cells derived from patients with FA display a marked sensitivity to DNA cross-linking agents, such as mitomycin C (MMC). This observation has led to the hypothesis that the proteins defective in FA are involved in the sensing or repair of interstrand cross-link lesions of the DNA. A nuclear complex consisting of a majority of the FA proteins plays a crucial role in this process and is required for the monoubiquitination of a downstream target, FANCD2. Two new FA genes, FANCB and FANCL, have recently been identified, and their discovery has allowed a more detailed study into the molecular architecture of the FA pathway. We demonstrate a direct interaction between FANCB and FANCL and that a complex of these proteins binds FANCA. The interaction between FANCA and FANCL is dependent on FANCB, FANCG, and FANCM, but independent of FANCC, FANCE, and FANCF. These findings provide a framework for the protein interactions that occur "upstream" in the FA pathway and suggest that besides the FA core complex different subcomplexes exist that may have specific functions other than the monoubiquitination of FANCD2. PMID:16720839

Medhurst, Annette L; Laghmani, El Houari; Steltenpool, Jurgen; Ferrer, Miriam; Fontaine, Chantal; de Groot, Jan; Rooimans, Martin A; Scheper, Rik J; Meetei, Amom Ruhikanta; Wang, Weidong; Joenje, Hans; de Winter, Johan P



Modularized functions of the Fanconi anemia core complex.  


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

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



Pathology Case Study: Anemia, Thrombocytopenia and Renal Insufficiency  

NSDL National Science Digital Library

This clinical immunology case study provided by the University of Pittsburgh Department of Pathology is an excellent resource for students and instructors in the health science fields. This particular case involves the diagnosis of a 68-year-old female admitted due to âÂÂworsening anemia, thrombocytopenia, and renal insufficiency.â Additional information on the patientâÂÂs history as well as laboratory results including urine protein electrophoresis, blood tests, and a biopsy were used to diagnose the patient in this case. The official diagnosis of this patient is provided in the âÂÂFinal Diagnosisâ section, and is accompanied by a discussion of the case and a short list of references. This is an excellent resource for students in the health sciences to familiarize themselves with using patient history and laboratory results to diagnose patientâÂÂs conditions. It is also a helpful site for educators to use to introduce or test student knowledge of clinical immunology.

Najjar, Hazim



Peritransplant psychiatric evaluation of patients with fanconi anemia.  


Patients with Fanconi anemia (FA) referred for stem cell transplantation (SCT) have multiple psychosocial risk factors and often present in distress in the peritransplant period. Twenty-two patients with FA were referred for psychiatry consultation before, during, or after SCT, across a 13-year period at Memorial Sloan-Kettering Cancer Center. The most common diagnoses were mood (50%), adjustment (46%), and anxiety (23%) disorders and delirium (23%); the most common psychiatric symptoms were anxious/depressed (86%), withdrawn (64%), and aggressive (59%) symptoms. Etiology of the diagnoses and symptoms included: chronic childhood illness, physical and/or neurodevelopmental disability, presence of a genetic syndrome, presence of a cancer predisposition syndrome, exposure to therapeutic androgens, and exposure to pediatric SCT. However, the degree of influence of the different factors could not be determined. In addition, other factors such as impact of sibling illness or loss, extent of treatment nonadherence, level and significance of neurodevelopmental pathologies were identified. Future prospective and possibly multicenter studies will need to be generated for a better understanding and more complete factor analysis. PMID:22441708

Kearney, Julia A; Hay, Jennifer L; Halpern, Lauren; Boulad, Farid



Front-line immunosuppressive treatment of acquired aplastic anemia.  


In this article, front-line immunosuppressive therapy (IST) for acquired plastic anemia (AA) is illustrated and discussed. Also second-line and salvage options are briefly illustrated. First-line IST should consist of horse anti-thymocyte globulin (ATG) and CsA that has been shown to result in response rates between 60 and 80%. CsA should be given for 12 months until transfusion independence is achieved and then tapered very slowly in the presence of a CR. Patients with a partial response are usually continued on CsA. Tight monitoring of the blood count during CsA tapering is necessary to identify early loss of response. G-CSF 5??g/kg/day s.c. in the first 30 days has been shown to reduce infections and hospitalization and to identify early responders, as those who achieve neutrophils count of?0.5 × 10(9)/L by day +30. This schedule is recommended in the first month of therapy. Afterward, G-CSF can be considered in neutropenic febrile episodes. Patients not achieving transfusion independence after a first course of IST may be considered for second-line IST, or for an allogeneic hematopoietic SCT depending on patient age, ongoing infection, neutrophil count and transfusion requirements. Third-line IST is rarely given, but some options are discussed. PMID:23165493

Dufour, C; Svahn, J; Bacigalupo, A



Targeted gene therapy and cell reprogramming in Fanconi anemia  

PubMed Central

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

Rio, Paula; Banos, Rocio; Lombardo, Angelo; Quintana-Bustamante, Oscar; Alvarez, Lara; Garate, Zita; Genovese, Pietro; Almarza, Elena; Valeri, Antonio; Diez, Begona; 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



Testosterone supplementation improves anemia in aging male mice.  


Whether aging alone causes anemia is still controversial. In this study, we show that 28-month-old male C57BL/6 mice, maintained in a pathogen-free environment, had significantly lower hemoglobin, hematocrit, and erythrocyte counts than young mice. The anemic condition aggravated further from 28 to 30 months. Old mice displayed increased erythropoietic activity, evidenced by an increase in reticulocyte counts, serum erythropoietin, and splenic expression of erythropoietic genes. An increase in late-stage erythroid progenitors was detected in spleen but not in bone marrow of the old mice. However, old mice also had lower serum iron and transferrin saturation, as well as lower erythrocyte iron incorporation rate. Testosterone supplementation restored serum iron status in old mice to levels similar to that of young adults, further upregulated splenic expression of erythropoietic genes, increased splenic erythroid progenitors, and significantly improved the red cell index. In conclusion, we found that mice can become anemic at very old age without apparent illness. The endogenous compensatory erythropoietic activity was insufficient to normalize the red cell index in old mice, either due to impaired iron homeostasis, ineffective erythropoiesis, or other unknown factors. Testosterone supplementation normalized the iron status and further stimulated splenic erythropoietic activity; both may contribute to improve the anemic condition in the old mice. PMID:23974081

Guo, Wen; Li, Michelle; Bhasin, Shalender



Traditional Herbal Management of Sickle Cell Anemia: Lessons from Nigeria  

PubMed Central

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

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



Disposable platform provides visual and color-based point-of-care anemia self-testing.  


BACKGROUND. Anemia, or low blood hemoglobin (Hgb) levels, afflicts 2 billion people worldwide. Currently, Hgb levels are typically measured from blood samples using hematology analyzers, which are housed in hospitals, clinics, or commercial laboratories and require skilled technicians to operate. A reliable, inexpensive point-of-care (POC) Hgb test would enable cost-effective anemia screening and chronically anemic patients to self-monitor their disease. We present a rapid, stand-alone, and disposable POC anemia test that, via a single drop of blood, outputs color-based visual results that correlate with Hgb levels. METHODS. We tested blood from 238 pediatric and adult patients with anemia of varying degrees and etiologies and compared hematology analyzer Hgb levels with POC Hgb levels, which were estimated via visual interpretation using a color scale and an optional smartphone app for automated analysis. RESULTS. POC Hgb levels correlated with hematology analyzer Hgb levels (r = 0.864 and r = 0.856 for visual interpretation and smartphone app, respectively), and both POC test methods yielded comparable sensitivity and specificity for detecting any anemia (n = 178) (<11 g/dl) (sensitivity: 90.2% and 91.1%, specificity: 83.7% and 79.2%, respectively) and severe anemia (n = 10) (<7 g/dl) (sensitivity: 90.0% and 100%, specificity: 94.6% and 93.9%, respectively). CONCLUSIONS. These results demonstrate the feasibility of this POC color-based diagnostic test for self-screening/self-monitoring of anemia. TRIAL REGISTRATION. Not applicable. FUNDING. This work was funded by the FDA-funded Atlantic Pediatric Device Consortium, the Georgia Research Alliance, Children's Healthcare of Atlanta, the Georgia Center of Innovation for Manufacturing, and the InVenture Prize and Ideas to Serve competitions at the Georgia Institute of Technology. PMID:25157824

Tyburski, Erika A; Gillespie, Scott E; Stoy, William A; Mannino, Robert G; Weiss, Alexander J; Siu, Alexa F; Bulloch, Rayford H; Thota, Karthik; Cardenas, Anyela; Session, Wilena; Khoury, Hanna J; O'Connor, Siobhán; Bunting, Silvia T; Boudreaux, Jeanne; Forest, Craig R; Gaddh, Manila; Leong, Traci; Lyon, L Andrew; Lam, Wilbur A



Frequency of Iron Deficiency Anemia in Girls Studying in Mashhad High Schools  

PubMed Central

Background Iron deficiency is one of the most prevalent anemia. 2 million people in the world suffer from it. All young girls are at higher risk for iron defiency anemia, therefore,diagnosis and prevention of this anemia in the young age is very important. Materials and Methods: A total of 1500 high school girls educated in five regions of education of Mashhad (ages 14-18 years) were studied. Cell blood count (CBC), serum iron, total iron binding capacity(TIBC),ferritin and peripheral blood smear were performed . If mean corpuscular volume (MCV) was less than normal(<76fl) and Red blood cell (RBC) was more than normal(>5×106/mm3 ), hemoglobin electrophoresis was subjected to test by methods of cellulose acetate to check the possibility of thalassemia minor.The data was analyzed by SPSS(version19) and Minitab software. Result: This is a descriptive cross sectional research. From 1500 under-experiment people,1094 cases (72.9%) were non-infected, 310 cases(20.7%) had iron deficiency anemia, and 96 cases(6.4%) had other disorders such as thalassemia. In girls with anemia, 272 cases (87.7%) were in stage I, 17 cases (5.5%) in stage II and 21 cases (6.8%) in stage III. The average age in stage I was higher than stage II and III. . Mean and standard deviation for Hb, Hct, MCV, MCH, MCHC, Fe, TIBC and Ferritin had significant difference in infected and non-infected group. Conclusion This study revealed that the prevalence of iron deficiency anemia in young girls are moderate, so that it is important to reduce the prevalence of iron deficiency anemia in young girls. PMID:24575287

Abrishami, F; Golshan, A



Malaria prevalence, anemia and baseline intervention coverage prior to mass net distributions in Abia and Plateau States, Nigeria  

PubMed Central

Background Nigeria suffers the world’s largest malaria burden, with approximately 51 million cases and 207,000 deaths annually. As part of the country’s aim to reduce by 50% malaria-related morbidity and mortality by 2013, it embarked on mass distribution of free long-lasting insecticidal nets (LLINs). Methods Prior to net distribution campaigns in Abia and Plateau States, Nigeria, a modified malaria indicator survey was conducted in September 2010 to determine baseline state-level estimates of Plasmodium prevalence, childhood anemia, indoor residual spraying (IRS) coverage and bednet ownership and utilization. Results Overall age-adjusted prevalence of Plasmodium infection by microscopy was similar between Abia (36.1%, 95% CI: 32.3%–40.1%; n?=?2,936) and Plateau (36.6%, 95% CI: 31.3%–42.3%; n?=?4,209), with prevalence highest among children 5-9 years. P. malariae accounted for 32.0% of infect