Sample records for dyserythropoietic anemia type

  1. Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes

    Microsoft Academic Search

    Carmela Lanzara; Romina Ficarella; Angela Totaro; Xin Chen; Roberta Roberto; Silverio Perrotta; Carla Lasalandra; Paolo Gasparini; Achille Iolascon; Massimo Carella

    2003-01-01

    Congenital dyserythropoietic anemias (CDA) are genetic disorders characterized by anemia and ineffective erythropoiesis. Three main types of CDA have been distinguished: CDA I, CDAII and CDA III, whose loci have been already mapped. After the identification of the locus for CDA II, also known as HEMPAS (hereditary erythroblast multinuclearity with positive acidified serum test), on the long arm of chromosome

  2. Am. J. Hum. Genet. 71:14671474, 2002 Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations

    E-print Network

    Lancet, Doron

    Am. J. Hum. Genet. 71:1467­1474, 2002 1467 Report Congenital Dyserythropoietic Anemia Type I Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders anemias (CDAs), a group of inherited disorders associated with morphological and functional abnormalities

  3. Genetics Home Reference: Dyserythropoietic anemia and thrombocytopenia

    MedlinePLUS

    ... 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 ...

  4. Congenital dyserythropoietic anemia type II — a case report of two siblings in a family

    Microsoft Academic Search

    Khaidem Ibochouba Singh; Jigme Tenzing Shartsho; Waikhom Ruhini Kumar Singh; Raj Kumari Tamphasana Devi; Ahongshangbam Meina Singh

    2007-01-01

    Two children out of three siblings of a fam- ily presented with tiredness, fatigue, and breathlessness for more than 6 months. Examination of peripheral blood smear, bone marrow aspirate, and a positive acidifi ed se- rum test (HEMPAS) revealed these children to be a case of congenital dyserythropoietic anemia type II. This case is reported because of its rarity.

  5. Genetics Home Reference: Congenital dyserythropoietic anemia

    MedlinePLUS

    ... 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 ...

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

    PubMed

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

    2014-08-01

    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

  7. Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

    PubMed Central

    Iolascon, Achille; Russo, Roberta; Esposito, Maria Rosaria; Asci, Roberta; Piscopo, Carmelo; Perrotta, Silverio; Fénéant-Thibault, Madeleine; Garçon, Loďc; Delaunay, Jean

    2010-01-01

    Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene. Here we established the molecular basis of 42 cases of congenital dyserythropoietic anemia type II and attempted to define a genotype-phenotype relationship. Design and Methods SEC23B gene sequencing analysis was performed to assess the diversity and incidence of each mutation in 42 patients with congenital dyserythropoietic anemia type II (25 described exclusively in this work), from the Italian and the French Registries, and the relationship of these mutations with the clinical presentation. To this purpose, we divided the patients into two groups: (i) patients with two missense mutations and (ii) patients with one nonsense and one missense mutation. Results We found 22 mutations of uneven frequency, including seven novel mutations. Compound heterozygosity for a missense and a nonsense mutation tended to produce a more severe clinical presentation, a lower reticulocyte count, a higher serum ferritin level, and, in some cases, more pronounced transfusion needs, than homozygosity or compound heterozygosity for two missense mutations. Homozygosity or compound heterozygosity for two nonsense mutations was never found. Conclusions This study allowed us to determine the most frequent mutations in patients with congenital dyserythropoietic anemia type II. Correlations between the mutations and various biological parameters suggested that the association of one missense mutation and one nonsense mutation was significantly more deleterious that the association of two missense mutations. However, there was an overlap between the two categories. PMID:20015893

  8. Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

    PubMed Central

    Russo, Roberta; Esposito, Maria Rosaria; Asci, Roberta; Gambale, Antonella; Perrotta, Silverio; Ramenghi, Ugo; Forni, Gian Luca; Uygun, Vedat; Delaunay, Jean; Iolascon, Achille

    2010-01-01

    SEC23B gene encodes an essential component of the coat protein complex II (COPII)-coated vesicles. Mutations in this gene cause the vast majority the congenital dyserythropoietic anemia Type II (CDA II), a rare disorder resulting from impaired erythropoiesis. Here, we investigated 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry. Overall, we found 19 novel variants [c.2270 A>C p.H757P; c.2149?2 A>G; c.1109+1 G>A; c.387(delG) p.L129LfsX26; c.1858 A>G p.M620V; c.1832 G>C p.R611P; c.1735 T>A p.Y579N; c.1254 T>G p.I418M; c.1015 C>T p.R339X; c.1603 C>T p.R535X; c.1654 C>T p.L552F; c.1307 C>T p.S436L; c.279+3 A>G; c. 2150(delC) p.A717VfsX7; c.1733 T>C p.L578P; c.1109+5 G>A; c.221+31 A>G; c.367 C>T p.R123X; c.1857_1859delCAT; p.I619del] in the homozygous or the compound heterozygous state. Homozygosity or compound heterozygosity for two nonsense mutations was never found. In four cases the sequencing analysis has failed to find two mutations. To discuss the putative functional consequences of missense mutations, computational analysis and sequence alignment were performed. Our data underscore the high allelic heterogeneity of CDA II, as the most of SEC23B variations are inherited as private mutations. In this mutation update, we also provided a tool to improve and facilitate the molecular diagnosis of CDA II by defining the frequency of mutations in each exon. Am. J. Hematol., 2010. © 2010 Wiley-Liss, Inc. PMID:20941788

  9. Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.

    PubMed

    Russo, Roberta; Esposito, Maria Rosaria; Asci, Roberta; Gambale, Antonella; Perrotta, Silverio; Ramenghi, Ugo; Forni, Gian Luca; Uygun, Vedat; Delaunay, Jean; Iolascon, Achille

    2010-12-01

    SEC23B gene encodes an essential component of the coat protein complex II (COPII)-coated vesicles. Mutations in this gene cause the vast majority the congenital dyserythropoietic anemia Type II (CDA II), a rare disorder resulting from impaired erythropoiesis. Here, we investigated 28 CDA II patients from 21 unrelated families enrolled in the CDA II International Registry. Overall, we found 19 novel variants [c.2270 A>C p.H757P; c.2149-2 A>G; c.1109+1 G>A; c.387(delG) p.L129LfsX26; c.1858 A>G p.M620V; c.1832 G>C p.R611P; c.1735 T>A p.Y579N; c.1254 T>G p.I418M; c.1015 C>T p.R339X; c.1603 C>T p.R535X; c.1654 C>T p.L552F; c.1307 C>T p.S436L; c.279+3 A>G; c. 2150(delC) p.A717VfsX7; c.1733 T>C p.L578P; c.1109+5 G>A; c.221+31 A>G; c.367 C>T p.R123X; c.1857_1859delCAT; p.I619del] in the homozygous or the compound heterozygous state. Homozygosity or compound heterozygosity for two nonsense mutations was never found. In four cases the sequencing analysis has failed to find two mutations. To discuss the putative functional consequences of missense mutations, computational analysis and sequence alignment were performed. Our data underscore the high allelic heterogeneity of CDA II, as the most of SEC23B variations are inherited as private mutations. In this mutation update, we also provided a tool to improve and facilitate the molecular diagnosis of CDA II by defining the frequency of mutations in each exon. PMID:20941788

  10. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding. alpha. -mannosidase II

    SciTech Connect

    Fukuda, M.N.; Masri, K.A. (La Jolla Cancer Research Foundation, CA (USA)); Dell, A. (Imperial College of Science Technology and Medicine, London (England)); Luzzatto, L. (Hammersmith Hospital, London (England)); Moremen, K.W. (Massachusetts Institute of Technology, Cambridge, MA (USA))

    1990-10-01

    Congenital dyserythropoietic anemia type II, or hereditary erythroblastic multinuclearity with a positive acidified-serum-lysis test (HEMPAS), is a genetic anemia in humans inherited by an autosomally recessive mode. The enzyme defect in most HEMPAS patients has previously been proposed as a lowered activity of N-acetylglucosaminyltransferase II, resulting in a lack of polylactosamine on proteins and leading to the accumulation of polylactosaminyl lipids. A recent HEMPAS case, G.C., has now been analyzed by cell-surface labeling, fast-atom-bombardment mass spectrometry of glycopeptides, and activity assay of glycosylation enzymes. Significantly decreased glycosylation of polylactosaminoglycan proteins and incompletely processed asparagine-linked oligosaccharides were detected in the erythrocyte membranes of G.C. These results suggest that G.C. cells contain a mutation in {alpha}-ManII-encoding gene that results in inefficient expression of {alpha}-ManII mRNA, either through reduced transcription or message instability. This report demonstrates that HEMPAS is caused by a defective gene encoding an enzyme necessary for the synthesis of asparagine-linked oligosaccharides.

  11. Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: definition of clinical and molecular spectrum and identification of new diagnostic scores.

    PubMed

    Russo, Roberta; Gambale, Antonella; Langella, Concetta; Andolfo, Immacolata; Unal, Sule; Iolascon, Achille

    2014-10-01

    Congenital Dyserythropoietic Anemia II (CDA II) is a rare hyporegenerative anemia of variable degree, whose causative gene is SEC23B. More than 60 causative mutations in 142 independent pedigrees have been described so far. However, the prevalence of the CDA II is probably underestimated, since its clinical spectrum was not yet well-defined and thus it is often misdiagnosed with more frequent clinically-related anemias. This study represents the first meta-analysis on clinical and molecular spectrum of CDA II from the largest cohort of cases ever described. We characterized 41 new cases and 18 mutations not yet associated to CDA II, thus expanding the global series to 205 cases (172 unrelated) and the total number of causative variants to 84. The 68.3% of patients are included in our International Registry of CDA II (Napoli, Italy). A genotype-phenotype correlation in three genotypic groups of patients was assessed. To quantify the degree of severity in each patient, a method based on ranking score was performed. We introduced a clinical index to easily discriminate patients with a well-compensated hemolytic anemia from those with ineffective erythropoiesis. Finally, the worldwide geographical distribution of SEC23B alleles highlighted the presence of multiple founder effects in different areas of the world. PMID:25044164

  12. Types of Hemolytic Anemia

    MedlinePLUS

    ... 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 ...

  13. The diagnostic challenge of congenital dyserythropoietic anaemia: two cases of 'CDA type II'.

    PubMed

    Dukka, Srivasavi; King, May-Jean; Hill, Quentin A

    2014-04-01

    The congenital dyserythropoietic anaemias (CDAs) are a group of rare hereditary disorders characterised by ineffective erythropoiesis and morphological abnormalities in the erythroblasts. Patients may present with jaundice or with symptoms of anaemia, gall stones or iron overload. The diagnosis can be challenging and cases have been confused with haemolytic anaemia, haemochromatosis or a haemoglobinopathy. A delayed diagnosis can lead to inappropriate treatment or delayed management of iron overload. We present two patients previously diagnosed as CDA type II in whom the diagnosis was revised to CDA type I and to hereditary spherocytosis. The conditions are compared and the approach to diagnosis is discussed. PMID:24385490

  14. Genetics Home Reference: Anemia

    MedlinePLUS

    ... 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 ...

  15. Anemia

    MedlinePLUS

    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 ...

  16. Anemia

    MedlinePLUS

    What Is Anemia? Lots of teens are tired. With all the demands of school and other activities, it's easy to understand ... get enough iron in their diets. Iron Deficiency Anemia Iron deficiency anemia is the most common type ...

  17. Pernicious anemia

    MedlinePLUS

    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. ...

  18. Anemia

    MedlinePLUS

    ... 3 million Americans. Jump To: The Role of Red Blood Cells in Anemia Red blood cells carry hemoglobin, an iron-rich protein ... Anemia occurs when you do not have enough red blood cells or when your red blood cells ...

  19. Anemia

    MedlinePLUS

    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 ...

  20. Anemias

    Microsoft Academic Search

    Rosalind Bryant

    \\u000a Anemia is defined as a reduction in the red cell mass due to decreased production, increased loss\\/ decreased survival, or\\u000a increased destruction of red blood cells (RBCs). As most of the oxygen is transported by the RBCs to the body tissues, a reduction\\u000a in the red cell mass causes reduced oxygen supply to the body cells. Consequently, anemia is a

  1. The Relationship between Anemia and the Initiation of Dialysis in Patients with Type 2 Diabetic Nephropathy

    PubMed Central

    Kim, Sun Hee; Lee, Kyung Ae; Jin, Heung Yong; Baek, Hong Sun

    2015-01-01

    Background Anemia is associated with various poor clinical outcomes in chronic kidney disease patients. The aim of this study was to investigate the relationship between anemia and the initiation degree and time of dialysis in type 2 diabetic nephropathy patients. Methods This observational retrospective study included 130 type 2 diabetic nephropathy patients in Korea. The existence of anemia, the degree and time of dialysis initiation were reviewed. Clinical characteristics and variables were also compared. Results The levels of hemoglobin and serum creatinine were significantly correlated with the dialysis initiation (P<0.05) during the 10-year follow-up period. Patients with anemia showed rapid decline of renal function, causing significantly more dialysis initiation (54.1% vs. 5.4%, P<0.05) compare to the patients without anemia. Average time to initiate dialysis in patients with anemia was 45.1 months (range, 8.0 to 115.8 months), which was significantly faster than that (68.3 months [range, 23.3 to 108.8 months]) in patients without anemia (P<0.01). The risk to dialysis initiation was significantly increased in patients with anemia compared to the patients without anemia (adjusted hazard ratio, 8.1; 95% confidence interval, 2.4 to 27.0; P<0.05). Conclusion Anemia is associated with rapid decline of renal dysfunction and faster initiation of dialysis in diabetic nephropathy patients. Therefore, clinicians should pay an earlier attention to anemia during the management of diabetes.

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

    Microsoft Academic Search

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

    2009-01-01

    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

  3. Folate-deficiency anemia

    MedlinePLUS

    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 ...

  4. How Is Anemia Treated?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Anemia Treated? Treatment for anemia depends on the type, cause, and severity of ... is to treat the underlying cause of the anemia. Dietary Changes and Supplements Low levels of vitamins ...

  5. Hepatocellular carcinoma with chronic B-type hepatitis complicated by autoimmune hemolytic anemia: A case report

    PubMed Central

    Okada, Toshie; Kubota, Keiichi; Kita, Junji; Kato, Masato; Sawada, Tokihiko

    2007-01-01

    A 57-year-old man consulted a local hospital because of a persistent slight fever. At the age of 37 years he was diagnosed having B-type hepatitis, but left the liver dysfunction untreated. Twenty years later, he was diagnosed having chronic hepatitis B, hepatocellular carcinoma (HCC) and macrocytic anemia, and referred to our hospital for further investigation. A HCC with a maximum diameter of 5.2 cm was detected in segment 8. Results of blood tests included 1.8 mg/dL serum total bilirubin, 0.9 mg/dL bilirubin, less than 10 mg/dL haptoglobin, 7.9 g/dL hemoglobin, 130 fL MCV, and 14.5% reticulocytes. A bone marrow sample showed erythroid hyperplasia. The direct Coombs test gave a positive result. We diagnosed the anemia as autoimmmune hemolytic anemia (AIHA), for which prednisolone could not be administered due to positivity for HBsAg and HBeAg. After preparation of washed blood cells for later transfusion, the patient underwent systematic resection of segment 8. The cut surface of the resected specimen demonstrated an encapsulated yellow-brownish tumor measuring 52 mm × 40 mm which was diagnosed pathologicaly as moderately differentiated HCC. On the 9th postoperative day, the patient’s temperature rose to 38°C, and exacerbated hemolysis was observed. The maximum total bilirubin value was 5.8 mg/dL and minimum hemoglobin level was 4.6 g/dL. He tolerated this period without blood transfusion. Currently he is being followed up as an outpatient, and shows no signs of HCC recurrence or symptoms of anemia. AIHA associated with HBV infection has been described in only three previous cases, and the present case is the first in which surgery was performed for accompanying HCC. PMID:17708620

  6. Sickle cell anemia

    MedlinePLUS

    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 ...

  7. Aplastic Anemia

    MedlinePLUS

    ... 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 ...

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

    PubMed

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

    1976-01-01

    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

  9. Hemolytic anemia

    MedlinePLUS

    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 ...

  10. Pernicious Anemia

    MedlinePLUS

    ... 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. ...

  11. Hemolytic Anemia

    MedlinePLUS

    ... 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 ...

  12. Anemia Due to Excessive Bleeding

    MedlinePLUS

    ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ... Anemia Vitamin Deficiency Anemia Anemia of Chronic Disease Aplastic Anemia Autoimmune Hemolytic Anemia Sickle Cell Disease Hemoglobin C, S- ...

  13. The Molecular Connection Between Aluminum Toxicity, Anemia,

    E-print Network

    Appanna, Vasu

    25 The Molecular Connection Between Aluminum Toxicity, Anemia, Inflammation and Obesity D. Appanna Laurentian University Canada 1. Introduction Anemia is reported to be the most common of the types of anemia has different underlying causes. Iron (Fe) deficiency, a potent instigator of anemia

  14. About Anemia

    MedlinePLUS

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

  15. Aplastic anemia

    MedlinePLUS

    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 ...

  16. Aplastic Anemia

    MedlinePLUS

    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 ...

  17. Fanconi Anemia

    MedlinePLUS

    ... on Twitter. What Is Fanconi Anemia? Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, ... much more likely than others to develop cancerous solid tumors. The risk of solid tumors increases with ...

  18. The Human Papillomavirus Type 16 E7 Oncoprotein Activates the Fanconi Anemia (FA) Pathway and Causes Accelerated Chromosomal Instability in FA Cells

    Microsoft Academic Search

    Nicole Spardy; Anette Duensing; Domonique Charles; Nathan Haines; Tomomi Nakahara; Paul F. Lambert; Stefan Duensing

    2007-01-01

    Fanconi anemia (FA) patients have an increased risk for squamous cell carcinomas (SCCs) at sites of predilection for infection with high-risk human papillomavirus (HPV) types, including the oral cavity and the anogenital tract. We show here that activation of the FA pathway is a frequent event in cervical SCCs. We found that FA pathway activation is triggered mainly by the

  19. Anemia (For Parents)

    MedlinePLUS

    About Anemia Anemia, one of the more common blood disorders, occurs when the level of healthy red blood cells ( ... cancer, or exposure to a drug or toxin. Anemia Caused by Destruction of RBCs Hemolytic anemia occurs ...

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

    PubMed Central

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

    2015-01-01

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

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

    SciTech Connect

    Bernstein, S.E.

    1982-07-19

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

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

    PubMed

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

    1983-06-01

    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

  3. What Causes Aplastic Anemia?

    MedlinePLUS

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

  4. Sickle cell anemia - resources

    MedlinePLUS

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

  5. HEMOLYTIC ANEMIA Erythrocytes premature

    E-print Network

    9/16/2013 1 HEMOLYTIC ANEMIA Erythrocytes premature destruction SCHISTOCYTES & SPHEROCYTES · Gallstones · Dark or Red Urine · Symptoms of Anemia · Thinning of Cortical Bone · Extramedullary RBC Defects · Immunohemolytic Anemias #12;9/16/2013 3 INTRINSIC DEFECTS · Membrane Defects

  6. Anemia of chronic disease

    MedlinePLUS

    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 ...

  7. Severe Aplastic Anemia (SAA)

    MedlinePLUS

    ... Email this page Print this page Severe aplastic anemia (SAA) Severe aplastic anemia (SAA) is a disease in which the bone ... make enough blood cells for the body. Aplastic anemia is rare and occurs more frequently in eastern ...

  8. Living with Anemia

    MedlinePLUS

    ... 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 ...

  9. Iron deficiency anemia

    MedlinePLUS

    Anemia - iron deficiency ... Iron deficiency anemia is the most common form of anemia. Red blood cells bring oxygen to the ... such as your spleen, remove old blood cells. Iron is a key part of red blood cells. ...

  10. Identification of lentivirus tat functional domains through generation of equine infectious anemia virus/human immunodeficiency virus type 1 tat gene chimeras.

    PubMed Central

    Carroll, R; Martarano, L; Derse, D

    1991-01-01

    The structural regions that comprise the functional domains of lentivirus Tat proteins were examined. Chimeric tat genes and chimeric viral promoters were constructed between the distantly related human immunodeficiency virus type 1 (HIV-1) and equine infectious anemia virus (EIAV). These exchange experiments revealed that the EIAV Tat-responsive element recognition domain is formed by two distinct structural regions. Activation domains of both HIV-1 and EIAV Tat contain a conserved core element, but at least HIV-1 Tat requires the presence of additional structural regions. The interchangeable nature of Tat activation domains suggests that these domains act through a common or ubiquitous cellular transcription factor. PMID:1645777

  11. What Are the Signs and Symptoms of Fanconi Anemia?

    MedlinePLUS

    ... 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 ...

  12. Child with aplastic anemia: Anesthetic management

    PubMed Central

    Kaur, Manpreet; Gupta, Babita; Sharma, Aanchal; Sharma, Sanjeev

    2012-01-01

    Aplastic anemia is a rare heterogeneous disorder of hematopoietic stem cells causing pancytopenia and marrow hypoplasia with the depletion of all types of blood cells. This results in anemia, neutropenia and thrombocytopenia, which pose a challenge to both surgical and anesthetic management of such cases. We report a child with aplastic anemia who sustained traumatic ulcer on the arm and underwent split-thickness skin grafting under general anesthesia. There are only two case reports on anesthetic considerations in aplastic anemia patients in the literature. The anesthetic management is challenging because of the rarity of the disease, associated pancytopenia and immunosuppression. PMID:23162410

  13. An extensive DeBakey type IIIb aortic dissection with massive right pleural effusion presenting as abdominal pain and acute anemia: particular case report

    PubMed Central

    Yu, Hui-Chun; Wang, Zhen-Qing; Hao, Yuan-Yuan; An, Feng-Ping; Hu, Yu-Chuan; Deng, Rui-Bing; Yu, Peng; Cui, Guang-Bin; Li, He

    2015-01-01

    We describe the case of a 79-year-old male presented with sudden onset of abdominal pain and mild breathlessness, and complicated acute progressive anemia with haemoglobin which declined from 120 g/L to 70 g/L within five days. An urgent computed tomography angiography showed acute thoracic aortic dissection, DeBakey type IIIb, a dissecting aneurysm in the proximal descending thoracic aorta starting immediately after the origin of the left subclavian artery and extending distally below the renal arteries with evidence of rupture into the right pleural cavity for massive pleural effusion. Plasma D-dimer, brain natriuretic peptide and C reactive protein level were elevated. Our case showed that D-dimer can be used as a ‘rule-out’ test in patients with suspected aortic dissection. A raised BNP may exert a protective role through anti-inflammatory endothelial actions in the systemic circulation. PMID:26089858

  14. Anemia and Pregnancy

    MedlinePLUS

    ... at the 2014 ASH Annual Meeting Home Anemia & Pregnancy Your body goes through significant changes when you ... risk for becoming anemic. back to top Is Pregnancy-Related Anemia Preventable? Good nutrition is the best ...

  15. Anemia in the Newborn

    MedlinePLUS

    ... Need Repeat Surgery: Study Additional Content Medical News Anemia in the Newborn by Arthur E. Kopelman, MD ... Prematurity (ROP) Necrotizing Enterocolitis (NEC) Jaundice in Newborns Anemia in the Newborn Polycythemia in the Newborn Thyroid ...

  16. Living with Fanconi Anemia

    MedlinePLUS

    ... from the NHLBI on Twitter. Living With Fanconi Anemia Improvements in blood and marrow stem cell transplants ... Rate This Content: NEXT >> November 1, 2011 Fanconi Anemia Clinical Trials Clinical trials are research studies that ...

  17. The Anemias of Athletes.

    ERIC Educational Resources Information Center

    Eichner, Edward R.

    1986-01-01

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

  18. What Causes Anemia?

    MedlinePLUS

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

  19. Ochratoxin A-induced iron deficiency anemia.

    PubMed Central

    Huff, W E; Chang, C F; Warren, M F; Hamilton, P B

    1979-01-01

    Ochratoxin A at 8 micrograms per g of diet, but not at lower doses, fed to chickens from 1 day to 3 weeks of age resulted in significantly (P less than 0.05) decreased packed blood cell volume and hemoglobin concentration without altering the number of circulating erythrocytes. Serum iron and percentage of transferrin saturation were lowered at 4 and 8 micrograms/g. Therefore, anemia was characteristic of severe ochratoxicosis of young chickens, and the anemia was categorized as a hypochromic-microcytic anemia of the iron deficiency type. These data indicate that ochratoxin A by itself does not cause hemorrhagic anemia syndrome of chickens and that an anemia caused by a nutritional deficiency can be elicited by a mycotoxin. PMID:453831

  20. How Is Anemia Diagnosed?

    MedlinePLUS

    ... page from the NHLBI on Twitter. How Is Anemia Diagnosed? Your doctor will diagnose anemia based on your medical and family histories, a ... exam, and results from tests and procedures. Because anemia doesn't always cause symptoms, your doctor may ...

  1. The human papillomavirus type 16 E7 oncoprotein activates the Fanconi anemia (FA) pathway and causes accelerated chromosomal instability in FA cells.

    PubMed

    Spardy, Nicole; Duensing, Anette; Charles, Domonique; Haines, Nathan; Nakahara, Tomomi; Lambert, Paul F; Duensing, Stefan

    2007-12-01

    Fanconi anemia (FA) patients have an increased risk for squamous cell carcinomas (SCCs) at sites of predilection for infection with high-risk human papillomavirus (HPV) types, including the oral cavity and the anogenital tract. We show here that activation of the FA pathway is a frequent event in cervical SCCs. We found that FA pathway activation is triggered mainly by the HPV type 16 (HPV-16) E7 oncoprotein and is associated with an enhanced formation of large FANCD2 foci and recruitment of FANCD2 as well as FANCD1/BRCA2 to chromatin. Episomal expression of HPV-16 oncoproteins was sufficient to activate the FA pathway. Importantly, the expression of HPV-16 E7 in FA-deficient cells led to accelerated chromosomal instability. Taken together, our findings establish the FA pathway as an early host cell response to high-risk HPV infection and may help to explain the greatly enhanced susceptibility of FA patients to squamous cell carcinogenesis at anatomic sites that are frequently infected by high-risk HPVs. PMID:17898070

  2. How Is Pernicious Anemia Treated?

    MedlinePLUS

    ... 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 ...

  3. Managing Chemotherapy Side Effects: Anemia

    MedlinePLUS

    ... 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 ...

  4. Iron deficiency anemia

    PubMed Central

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

    2012-01-01

    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

  5. Inborn anemias in mice

    SciTech Connect

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

    1981-06-01

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

  6. Hematologic Disorders: Anemia.

    PubMed

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

    2015-06-01

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

  7. Fifth Cooley's anemia symposium

    SciTech Connect

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

    1985-01-01

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

  8. Sickle Cell Anemia

    MedlinePLUS

    ... reduce painful crises and episodes of acute chest syndrome for adults and kids with sickle cell. Bone marrow transplant, a complex and risky procedure, is the only cure for sickle cell anemia. Scientists are also studying gene therapy as a treatment for sickle cell anemia. One ...

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

    PubMed

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

    2014-11-01

    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

  10. MEGALOBLASTIC AND OTHER MACROCYTIC ANEMIA

    E-print Network

    9/16/2013 1 MEGALOBLASTIC AND OTHER MACROCYTIC ANEMIA MACROCYTOSIS MCV > 100 fL MCHC ­ Normal False) Absorption Transport VITAMIN B 12 DEFICIENCY Pernicious Anemia Shilling Test Other Causes of Malabsorption Oral Parenteral ­ Pernicious Anemia OTHER MEGALOBLASTIC ANEMIAS Drugs Enzyme Deficiencies Congenital

  11. Current concepts in the pathophysiology and treatment of aplastic anemia

    Microsoft Academic Search

    Neal S. Young; Rodrigo T. Calado; Phillip Scheinberg; Hematology Branch

    2006-01-01

    Aplastic anemia, an unusual hematologic disease, is the paradigm of the human bone marrow failure syndromes. Almost universally fatal just a few decades ago, aplastic anemia can now be cured or ameliorated by stem-cell transplantation or immunosuppressive drug therapy. The pathophysiology is immune mediated in most cases, with activated type 1 cyto- toxic T cells implicated. The molecular basis of

  12. Your Guide to Anemia

    MedlinePLUS

    ... for rheumatoid arthritis l Autoimmune disorders (e.g., lupus) l Pregnancy l Fanconi anemia l Shwachman-Diamond ... inherited condition. Certain diseases or infections, such as lupus or hepatitis, are exam ples of acquired conditions ...

  13. Iron-Deficiency Anemia

    MedlinePLUS Videos and Cool Tools

    ... blood has a lower than normal number of red blood cells. Red blood cells carry oxygen and remove carbon dioxide ( ... your body. Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE- ...

  14. Anemia mexicana (Native) 

    E-print Network

    Robert W. Corbett

    2011-08-02

    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...

  15. How Is Iron-Deficiency Anemia Treated?

    MedlinePLUS

    ... 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 ...

  16. Genetic modulation of sickle cell anemia

    SciTech Connect

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

    1995-05-01

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

  17. Facts about Diamond Blackfan Anemia

    MedlinePLUS

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

  18. How Is Hemolytic Anemia Treated?

    MedlinePLUS

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

  19. Treatment of iron deficiency anemia with Ferro-Folgamma.

    PubMed

    Ghinea, Mihaela Maria

    2004-01-01

    Iron deficiency anemia is a hypochromic anemia in which hemoglobin poor synthesis is due to a decrease in the amount of iron in the body. The decrease of iron quantity has many causes: insufficient intake of aliments rich in iron (meat, viscera, green vegetables), increased necessities during growth period, pregnancy, erythrocytes hyperregeneration, high-performance sportsmen, increased loss by digestive way, genito-urinary way, respiratory, hemorrhagic syndromes. Clinically, symptoms and signs specific to all types of anemia and those specific to lack of iron occur besides the symptoms and signs of the underlying disease: atrophic glositis, angular stomatitis, sideropenic dysphagia, pica, skin and nails changes. Laboratory investigations useful for diagnosis are: microcytic, hypochromic anemia, decreased serum iron level, total capacity of iron binding increased, medullar iron store absent, good response to iron therapy. Ferro-Folgamma is one of the most indicated medicines in iron deficiency anemia. Due to its components this medicine has many indications: insufficient alimentary intake concerning iron, folic acid, B12 vitamin, vegetarian alimentation, increased needs during growth period, iron deficiency anaemia secondary to chronic hemorrhages, malnutrition, anemias associated with chronic alcohol intake, preventive treatment of iron deficiency anemia and megaloblastic anemia during pregnancy and lactation. PMID:15529613

  20. Management of Anemia of Inflammation in the Elderly

    PubMed Central

    Macciň, Antonio; Madeddu, Clelia

    2012-01-01

    Anemia of any degree is recognized as a significant independent contributor to morbidity, mortality, and frailty in elderly patients. Among the broad types of anemia in the elderly a peculiar role seems to be played by the anemia associated with chronic inflammation, which remains the most complex form of anemia to treat. The origin of this nonspecific inflammation in the elderly has not yet been clarified. It seems more plausible that the oxidative stress that accompanies ageing is the real cause of chronic inflammation of the elderly and that the same oxidative stress is actually a major cause of this anemia. The erythropoietic agents have the potential to play a therapeutic role in this patient population. Despite some promising results, rHuEPO does not have a specific indication for the treatment of anemia in the elderly. Moreover, concerns about their side effects have spurred the search for alternatives. Considering the etiopathogenetic mechanisms of anemia of inflammation in the elderly population, an integrated nutritional/dietetic approach with nutraceuticals that can manipulate oxidative stress and related inflammation may prevent the onset of this anemia and its negative impact on patients' performance and quality of life. PMID:23091709

  1. How Is Fanconi Anemia Treated?

    MedlinePLUS

    ... 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 ...

  2. How Is Fanconi Anemia Diagnosed?

    MedlinePLUS

    ... from the NHLBI on Twitter. How Is Fanconi Anemia Diagnosed? People who have Fanconi anemia (FA) are born with the disorder. They may ... questions about: Any personal or family history of anemia Any surgeries you’ve had related to the ...

  3. How Is Aplastic Anemia Diagnosed?

    MedlinePLUS

    ... 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 ...

  4. Anemia and School Participation

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  5. Sickle Cell Anemia Bibliography.

    ERIC Educational Resources Information Center

    Christy, Steven C.

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

  6. ANEMIA OF DISORDERED IRON METABOLISM AND HEME

    E-print Network

    9/16/2013 1 ANEMIA OF DISORDERED IRON METABOLISM AND HEME SYNTHESIS Defect in Heme Synthesis Defect Deficiency Anemia Sideroachristic ­ adequate iron but defective utilization Sideroblastic Anemia Anemia;9/16/2013 4 IRON DEFICIENCY ANEMIA CAUSES Dietary Deficiency Blood Loss Hemodialysis Malabsorption IDA

  7. Etiology of anemia in primary hypothyroid subjects in a tertiary care center in Eastern India

    PubMed Central

    Das, Chanchal; Sahana, Pranab K.; Sengupta, Nilanjan; Giri, Debasis; Roy, Mukut; Mukhopadhyay, Prasanta

    2012-01-01

    Introduction: The association of anemia with primary hypothyroidism has been common knowledge for many years. However; its pathogenesis is far from clear in many cases. Often the causes of anemia are manifold. Aims and objectives: In this study, we evaluated the causes of anemia in patients with primary hypothyroidism. Materials and Methods: Sixty adult nonpregnant untreated primary hypothyroid patients with anemia without any obvious cause were included. All patients were subjected to full medical history, clinical examination, biochemical and imaging studies. Serum iron profile, vitamin B12, folic acid, anti parietal cell antibody, anti TPO antibody, bone marrow study, and stool for occult blood, Coomb's test, HPLC for hemoglobinopathies and complete hemogram with reticulocyte count were done and analyzed. Results: Normocytic, normochromic anemia was present in 31 patients (51.6%) followed by microcytic anemia in 26 patients (43.3%). Six patients (10%) had megaloblastic anemia with vitamin B12 deficiency including 3 cases of pernicious anemia. Two patients had combined deficiency of iron and vitamin B12. Conclusion: Normocytic normochromic anemia with normal bone marrow was commonest type of anemia in this study, followed by iron deficiency anemia. PMID:23565429

  8. Anemia in hemodialysis patients.

    PubMed

    Higgins, M R; Grace, M; Ulan, R A; Silverberg, D S; Bettcher, K B; Dossetor, J B

    1977-02-01

    The association between anemia and chronic renal failure has been recognized since the early 19th century. With the introduction of regular dialysis treatment, an understanding of all aspects of this uremic complication has become of great importance, including an appreciation of the hazards of multiple blood transfusions. This analysis of hemoglobin levels and transfusion requirements in 84 dialysis patients focuses specific attention on hemolytic mechanisms, blood loss, and the effect of bilateral nephrectomy on erythropoiesis. Because no replacement for renal erythropoietin is available, particular attention must be paid to less important, but partially correctable factors that contribute to anemia. Blood transfusion requirements can then be reduced to a minimum, together with the risks of hypersplenism, hepatitis, and sensitization of the patient to alloantigens. PMID:836115

  9. Iron-Deficiency Anemia (For Parents)

    MedlinePLUS

    ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ... red blood cells. This is a condition called anemia . When someone has anemia, less oxygen reaches the ...

  10. Genetics Home Reference: Diamond-Blackfan anemia

    MedlinePLUS

    ... 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 ...

  11. 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

    ELIZABETH S. RUSSELL; ELIZABETH L. FONDAL

    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

  12. How Is Aplastic Anemia Treated?

    MedlinePLUS

    ... need for blood transfusions. Medicines To Suppress the Immune System Research suggests that aplastic anemia may sometimes occur because the body's immune system attacks its own cells by mistake. For this ...

  13. Anemia in People with Cancer

    MedlinePLUS

    ... past and current medical conditions and do a physical exam. Other tests may be needed to help to find the cause of your anemia. These could include: Blood chemistry tests to check organ function and levels of ...

  14. Sexuality and sickle cell anemia

    PubMed Central

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

    2013-01-01

    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

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

    PubMed Central

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

    2014-01-01

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

  16. What Are the Signs and Symptoms of Anemia?

    MedlinePLUS

    ... 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 ( ...

  17. Chicken anemia virus.

    PubMed

    Schat, K A

    2009-01-01

    Chicken anemia virus (CAV), the only member of the genus Gyrovirus of the Circoviridae, is a ubiquitous pathogen of chickens and has a worldwide distribution. CAV shares some similarities with Torque teno virus (TTV) and Torque teno mini virus (TTMV) such as coding for a protein inducing apoptosis and a protein with a dual-specificity phosphatase. In contrast to TTV, the genome of CAV is highly conserved. Another important difference is that CAV can be isolated in cell culture. CAV produces a single polycistronic messenger RNA (mRNA), which is translated into three proteins. The promoter-enhancer region has four direct repeats resembling estrogen response elements. Transcription is enhanced by estrogen and repressed by at least two other transcription factors, one of which is COUP-TF1. A remarkable feature of CAV is that the virus can remain latent in gonadal tissues in the presence or absence of virus-neutralizing antibodies. In contrast to TTV, CAV can cause clinical disease and subclinical immunosuppression especially affecting CD8+ T lymphocytes. Clinical disease is associated with infection in newly hatched chicks lacking maternal antibodies or older chickens with a compromised humoral immune response. PMID:19230563

  18. Inborn anemias in mice: (Annual report, 1980-1981)

    SciTech Connect

    Bernstein, S.E.

    1981-07-02

    The basic purpose of this study is the delineation and exploitation of inborn anemias of the laboratory mouse, carried out by utilization of genetically homogeneous stocks segregating only for anemia-producing genes; by physiological and histological descriptions of each condition at all stages in the life history; by determination of tissue sites of primary gene action through tissue culture studies, tissue transplantation and parabiosis experiments; by analysis of reactions of normal and anemic mice to a variety of stressful stimuli, including x-irradiation, hypoxia, and toxic chemicals, and by biochemical comparisons between tissues, especially erythrocytes and hemopoietic cells of normal vs each type of anemic mouse. At present 16 single-locus anemias are known in the mouse, plus one with multifactorial inheritance (the autoimmune hemolytic anemia of NZB inbred mice). Of these, six are maintained only by the Jackson Laboratory, and two others have but one additional source. Effects of anemia-producing mutant alleles of these loci (an; f; ja; ha; Hba/sup th/; mk; nb; Sl and Sl/sup d/; sla; sph; and W, W/sup v/, W/sup J/ and 10 other putative W-alleles) are currently under investigation at the Jackson Laboratory. 15 refs.

  19. Clinico-aetiologic profile of macrocytic anemias with special reference to megaloblastic anemia

    Microsoft Academic Search

    Vineetha Unnikrishnan; Tarun Kumar Dutta; Bhawana A. Badhe; Zachariah Bobby; Ashish K. Panigrahi

    2008-01-01

    Purpose of study This study was conducted to study the clinical and laboratory parameters in patients with macrocytic anemia and to determine the etiology of macrocytic anemia with special reference to megaloblastic anemia. Materials and methods This study was a cross-sectional descriptive study carried over a period of 18 months on 60 adult patients (age ?13 years) of macrocytic anemia.

  20. Hemolytic anemia caused by chemicals and toxins

    MedlinePLUS

    Anemia - hemolytic - caused by chemicals or toxins ... Possible substances that can cause hemolytic anemia include: Anti-malaria drugs (quinine compounds) Arsenic Dapsone Intravenous water infusion (not half-normal saline or normal saline) Metals (chromium/chromates, ...

  1. Drug-induced immune hemolytic anemia

    MedlinePLUS

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

  2. [Approach to the diagnosis and treatment of chronic anemia secondary to gastrointestinal diseases].

    PubMed

    Rodríguez-Moranta, Francisco; Rodríguez-Alonso, Lorena; Guardiola Capón, Jordi

    2014-12-01

    Iron deficiency anemia is the most common type of anemia and can cause asthenia, cognitive and functional impairment, and decompensation of underlying diseases. Iron deficiency anemia is not a disease but is the result of a potentially serious medical problem. Consequently, patients should always undergo investigation of the underlying cause. In men and postmenopausal women, the condition is caused by gastrointestinal loss and malabsorption of iron. In this group, recommended procedures are gastroscopy, colonoscopy and serological testing for celiac disease. If the results of these tests are negative, repeat examinations and iron therapy should be considered. In treatment-refractory or recurrent anemia, the small intestine should be investigated. In this case, the procedure of choice is capsule endoscopy. Iron deficiency anemia should always be treated until iron deposits have returned to normal levels. A wide variety of preparations are available, in both oral and parental formulations. PMID:25443541

  3. Marzo de 2012 Lucha contra la anemia

    E-print Network

    N° 399 Marzo de 2012 Lucha contra la anemia: una estrategia más eficaz Scientific news Actualidad cientifica Actualité scientifique La carencia de hierro y la anemia1 que ésta puede provocar constituyen un. África y la India registran los mayores índices de anemia, con casi un 50% de las mujeres afectadas. En

  4. (Inborn anemias of mice): Terminal progress report

    SciTech Connect

    Bernstein, S.E.

    1987-01-01

    Mutations located at 11 different chromosomal locations in the mouse all affecting hemopoiesis have been studied. These include: Hertwig's anemia (an), W-anemias (W, W/sup v/, W/sup 17J/ to W/sup 41J/), Steel anemias (Sl, Sl/sup d/, etc.), Normoblastic anemia (nb), Jaundiced (ja), Spherocytic anemias (sph, sph/sup ha/), sph/sup 2J/, sph/sup 2BC/, Flexed-tail anemia (f), Microcytic anemia (mk), Sex-linked anemia (Sla), Alpha thallasemia (Hba/sup th/), and a hypochromic anemia associated with low transferrin levels (hpx). Our findings indicate that the erythroid defect in W-anemias stem from an intrinsic defect in the erythroid progenitor cells, and that all other erythroid hemostatic mechanisms are fully functional. Hertwig's anemia (an) is affected in a similar fashion. However, in the case of Steel anemias, the erythroid progenitors are repressed, but when transplanted to appropriate recipients were found to be fully functional. 70 refs., 4 tabs.

  5. Iron supplementation in renal anemia.

    PubMed

    Fishbane, Steven

    2006-07-01

    Iron-deficiency frequently develops in patients with chronic kidney disease who are treated with recombinant human erythropoietin (rHuEPO). It results in reduced effectiveness of anemia therapy; patients may fail to reach hemoglobin targets or may require excessively large doses of rHuEPO. It has been recognized widely that iron management, monitoring for iron deficiency, and effective iron supplementation forms a core component of anemia therapy. This review discusses the physiology of iron balance, derangements in iron balance in chronic kidney disease (CKD), and the diagnosis and treatment of iron deficiency in patients treated with rHuEPO. PMID:16949471

  6. Pregnancy Complications: Anemia

    MedlinePLUS

    ... quick weight gain or your legs and face swell Have questions? Type your question here. Frequently Asked ... quick weight gain or your legs and face swell Have questions? Type your question here. Get the ...

  7. Y O U R G U I D E T O Iron-Deficiency Anemia

    E-print Network

    Bandettini, Peter A.

    Y O U R G U I D E T O Anemia Iron-Deficiency Anemia Pernicious Anemia Aplastic Anemia Hemolytic Anema Anemia Healthy Lifestyle Changes Prevent Treat Control #12;#12;Y O U R G U I D E T O Anemia AnemiaHealthy Lifestyle Changes Prevent Treat Control Iron-Deficiency Anemia Pernicious Anemia Aplastic

  8. Erythropoietic response to acute anemia.

    PubMed

    Rosen, A L; Gould, S A; Sehgal, L R; Levine, E A; Sehgal, H L; Goldwasser, E; Beaver, C W; Moss, G S

    1990-03-01

    Reliance on a brisk erythropoietic response to untreated blood loss is an alternative to transfusion of homologous blood. Slow erythropoiesis has been observed in ICU patients who refused blood. Many of these patients received supplemental oxygen therapy and Fluosol-DA, a temporary red cell substitute. This study reports the erythropoietic response, in the baboon, to moderate (Hct 20%) and severe (Hct 10%) anemia. In addition, the effect of oxygen therapy (FIO2 0.6 for 1 wk) and fluorocarbon emulsions (Oxypherol) on erythropoiesis was evaluated. Baboons uniformly survived acute normovolemic anemia with Hct 10%. In all cases, the response to anemia was characterized by a lag period (with no change in Hct), and a nonlinear recovery period. A lag period of 3 days was observed in both moderate and severe anemia for baboons breathing room air or FIO2 0.6. The lag period was prolonged to 1 wk in the presence of Oxypherol. The recovery period exhibited a uniform and negative correlation between the rate of Hct change and the Hct, in all cases. The theoretical maximum rate of increase of Hct was 2.6%/day. In untreated blood loss, shortening the lag period and increasing the slope of the recovery period will decrease the length of time that the patient is anemic. PMID:1689236

  9. Erythropoietin in anemia of prematurity

    Microsoft Academic Search

    Suraj Gupte

    2003-01-01

    Sir, May I support the projections made by Atasay et alI that early erythropoietin administration may not be considered a dependable therapeutic measure in immediately reducing the blood transfusion need in anemia of prematurity. Instead, preferred recourse should be at providing minimal phlebotomy losses by employing noninvasive monitorization techniques and microlaboratory methods, and iron and protein supplementation with optimal nutrition.

  10. Cooley's Anemia: A Psychosocial Directory.

    ERIC Educational Resources Information Center

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

    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…

  11. An anemia of Alzheimer's disease.

    PubMed

    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

    2014-11-01

    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

  12. [Anemia as a surgical risk factor].

    PubMed

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

    2013-07-01

    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

  13. Inborn anemias in mice: (Annual report, 1982-1983)

    SciTech Connect

    Bernstein, S.E.

    1983-09-09

    The nature of the defects that shorten the effective lifespan of red blood cells in the circulation and which gave rise to anemia, jaundice and to spleen, liver and heart enlargement are studied because they so closely parallel inherited hemolytic anemias in man. In mice, ''hemolytic disease'' initiated by the ja, sph, sph/sup ha/, or the nb genes has been traced to abnormalities in the protein components of their red cell membranes. Polyacrylamide gel electrophoresis of detergent solubilized membranes reveal that in the different genetic types one or more of the major high molecular weight proteins called spectrins is decreased or totally missing. It is one thing to observe a correlation between missing or defective components in selected analytical procedures, and another to establish a causal relationship between the two. To investigate the possible interrelationships, we examined the associations between spectrin or ankyrin content, the severity of the resulting anemia, red cell osmotic fragilities, and the capacity of cells from each genotype to be deformed in a continuous osmotic gradient at constant sheer stress. Our findings indicate that sensitivity to osmotic stress, cell rigidity (inadequate deformability), deficiency of spectrin or ankyrin, and the severity of the anemia, are statistically highly correlated. 11 refs., 3 tabs.

  14. Managing anemia in lymphoma and multiple myeloma

    PubMed Central

    Birgegĺrd, Gunnar

    2008-01-01

    Anemia is common in cancer, and lymphoproliferative disease is no exception. Erythropoiesis-stimulating agents (ESA) have been used for renal anemia since 1986, and considerably later in cancer anemia. The first studies were published around 1993, but the use of ESA did not become common in cancer anemia until in the late 1990s. Cancer anemia is still under-treated. This review gives an overview of the use of ESA in hematologic malignancies. A background is given about this treatment in the cancer field generally. The pathophysiology of cancer anemia is described with special emphasis on the disturbances in iron metabolism. Functional iron deficiency has been shown to be both frequent and important as a hindrance for response to ESA treatment, and recent studies are reported in some detail, where the use of intravenous iron was shown to improve the response rate of ESA treatment. PMID:18728848

  15. Molecular pathogenesis in Diamond–Blackfan anemia

    Microsoft Academic Search

    Etsuro Ito; Yuki Konno; Tsutomu Toki; Kiminori Terui

    2010-01-01

    Diamond–Blackfan anemia (DBA) is a congenital anemia and a broad spectrum of developmental abnormalities that presents soon\\u000a after birth. The anemia is due to a failure of erythropoiesis with normal platelet and myeloid lineages. Approximately 10–20%\\u000a of DBA cases are inherited. Genetic studies have identified heterozygous mutations in at least one of eight ribosomal protein\\u000a genes in up to 50%

  16. Gua breve sobre la La anemia es un trastorno de la sangre. La sangre es

    E-print Network

    Bandettini, Peter A.

    Anemia Guía breve sobre la La anemia es un trastorno de la sangre. La sangre es un líquido esencial de anemia, como la anemia por deficien- cia de hierro, la anemia perniciosa, la anemia aplásica y la anemia hemolítica. Los distintos tipos de anemia tienen relación con diversas enfermedades y problemas de

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

    MedlinePLUS

    ... 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 ...

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

    MedlinePLUS

    ... 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 ...

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

    MedlinePLUS

    ... 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 ...

  20. Genetics Home Reference: X-linked sideroblastic anemia

    MedlinePLUS

    ... 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 ...

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

    PubMed Central

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

    2010-01-01

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

  2. Diagnosis and treatment of unexplained anemia with iron deficiency without overt bleeding.

    PubMed

    Dahlerup, Jens Frederik; Eivindson, Martin; Jacobsen, Bent Ascanius; Jensen, Nanna Martin; Jřrgensen, Sřren Peter; Laursen, Stig Borbjerg; Rasmussen, Morten; Nathan, Torben

    2015-04-01

    A general overview is given of the causes of anemia with iron deficiency as well as the pathogenesis of anemia and the para-clinical diagnosis of anemia. Anemia with iron deficiency but without overt GI bleeding is associated with a risk of malignant disease of the gastrointestinal tract; upper gastrointestinal cancer is 1/7 as common as colon cancer. Benign gastrointestinal causes of anemia are iron malabsorption (atrophic gastritis, celiac disease, chronic inflammation, and bariatric surgery) and chronic blood loss due to gastrointestinal ulcerations. The following diagnostic strategy is recommended for unexplained anemia with iron deficiency: conduct serological celiac disease screening with transglutaminase antibody (IgA type) and IgA testing and perform bidirectional endoscopy (gastroscopy and colonoscopy). Bidirectional endoscopy is not required in premenopausal women < 40 years of age. Small intestine investigation (capsule endoscopy, CT, or MRI enterography) is not recommended routinely after negative bidirectional endoscopy but should be conducted if there are red flags indicating malignant or inflammatory small bowel disease (e.g., involuntary weight loss, abdominal pain or increased CRP). Targeted treatment of any cause of anemia with iron deficiency found on diagnostic assessment should be initiated. In addition, iron supplementation should be administered, with the goal of normalizing hemoglobin levels and replenishing iron stores. Oral treatment with a 100-200 mg daily dose of elemental iron is recommended (lower dose if side effects), but 3-6 months of oral iron therapy is often required to achieve therapeutic goals. Intravenous iron therapy is used if oral treatment lacks efficacy or causes side effects or in the presence of intestinal malabsorption or prolonged inflammation. Three algorithms are given for the following conditions: a) the paraclinical diagnosis of anemia with iron deficiency; b) the diagnostic work-up for unexplained anemia with iron deficiency without overt bleeding; and c) how to proceed after negative bidirectional endoscopy of the gastrointestinal tract. PMID:25872536

  3. Anemia - Multiple Languages: MedlinePlus

    MedlinePLUS

    ... ????) French (français) Hindi (??????) Japanese (???) Korean (???) Russian (???????) Somali (af Soomaali) Spanish (espańol) ... ??? - ??? (Japanese) Bilingual PDF Health Information Translations Korean (???) Anemia ?? - ??? (Korean) Bilingual PDF Health ...

  4. Management of Anemia in Children Receiving Chronic Peritoneal Dialysis

    PubMed Central

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

    2013-01-01

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

  5. [The characteristics of iron metabolism under iron-deficiency anemia and chronic disorders anemia].

    PubMed

    Smorkalova, E V; Aznabaeva, L F; Nikulicheva, V I; Safuanova, G Sh; Chepurnaia, A N

    2011-07-01

    The study investigated the issues of iron metabolism under iron-deficiency anemia and chronic disorders anemia and dependencies of production of IL-1? and sICAM-1 immunoinflammatory markers from degree of severity and duration of anemia. The study data indicates that under iron-deficiency anemia lactoferrin and sICAM-1 are the negative regulators of hemopoiesis. The inhibition of transferrin expression by the proinflammatory cytokines is one of the causes of inefficient hemopoiesis under chronic disorders anemia. PMID:21899115

  6. Coombs-Negative Autoimmune Hemolytic Anemia in Crohn’s Disease

    PubMed Central

    Park, Bong Soo; Park, Sihyung; Jin, Kyubok; Kim, Yeon Mee; Park, Kang Min; Lee, Jeong-Nyeo; Kamesaki, Toyomi; Kim, Yang Wook

    2014-01-01

    Patient: Female, 41 Final Diagnosis: Coombs negative autoimmune hemolytic anemia Symptoms: Dark urine • dizziness • dyspnea Medication: — Clinical Procedure: Immunoradiometric assay for RBC-IgG Specialty: Hematology Objective: Rare disease Background: Anemia is a common, important extraintestinal complication of Crohn’s disease. The main types of anemia in patients with Crohn’s disease are iron deficiency anemia and anemia of chronic disease. Although patients with Crohn’s disease may experience various type of anemia, autoimmune hemolytic anemia (AIHA) in patients with Crohn’s disease, especially Coombs-negative AIHA, is very rare. Case Report: A 41-year-old woman with Crohn’s disease presented to our emergency room (ER) with dark urine, dizziness, and shortness of breath. The activity of Crohn’s disease had been controlled, with Crohn’s disease activity index (CDAI) score below 100 point. On physical examination, the patient had pale conjunctivae and mildly icteric sclerae. Serum bilirubin was raised at 3.1 mg/dL, lactate dehydrogenase (LDH) level was 1418 U/L and the haptoglobin level was <3 mg/dL. Results of direct and the indirect Coombs tests were all negative. We then measured the RBC-IgG to evaluate the possibility of Coombs-negative AIHA. The result revealed that RBC-IgG level was 352 IgG molecules/cell, with the cut-off value at 78.5 IgG molecules/cell. Conclusions: We report a case of Coombs-negative AIHA in a patient with Crohn’s disease with chronic anemia, diagnosed by red blood cell-bound immunoglobulin G (RBC-IgG) and treated with steroids therapy. PMID:25488633

  7. Anemia in Children with Down Syndrome

    PubMed Central

    Tenenbaum, Ariel; Malkiel, Sarah; Wexler, Isaiah D.; Levy-Khademi, Floris; Revel-Vilk, Shoshana; Stepensky, Polina

    2011-01-01

    Background. Iron deficiency anemia impacts on cognitive development. The objective of this study was to determine the prevalence of anemia and iron deficiency in children with Down syndrome and identify risk factors for anemia. Methods. We conducted a prolective cross-sectional study of children attending a multidisciplinary Down syndrome medical center. One hundred and forty nine children with Down syndrome aged 0–20 years were enrolled in the study. Information obtained included a medical history, physical and developmental examination, nutritional assessment, and the results of blood tests. Results. Of the patients studied, 8.1% were found to have anemia. Among the 38 children who had iron studies, 50.0% had iron deficiency. In a multivariate analysis, Arab ethnicity and low weight for age were significantly associated with anemia. Gender, height, the presence of an eating disorder, and congenital heart disease were not risk factors for anemia. Conclusions. Children with Down syndrome are at risk for anemia and iron deficiency similar to the general population. Children with Down syndrome should be monitored for anemia and iron deficiency so that prompt intervention can be initiated. PMID:21941570

  8. Anemia treatment in chronic renal insufficiency

    Microsoft Academic Search

    Steven Fishbane

    2002-01-01

    Anemia is a common complication of chronic renal insufficiency, one that leads to a reduced quality of life and an increased burden on the heart. In recent years, it has been shown that anemia is underrecognized and undertreated in these patients. The benefits of recombinant human erythropoietin treatment in this patient population have been well shown. The major side effect,

  9. 9 CFR 311.34 - Anemia.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ...Animal Products 2 2014-01-01 2014-01-01 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...

  10. 9 CFR 311.34 - Anemia.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ...Animal Products 2 2011-01-01 2011-01-01 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...

  11. The Student with Sickle Cell Anemia.

    ERIC Educational Resources Information Center

    Tetrault, Sylvia M.

    1981-01-01

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

  12. 9 CFR 311.34 - Anemia.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ...Animal Products 2 2013-01-01 2013-01-01 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...

  13. 9 CFR 311.34 - Anemia.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ...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...

  14. 9 CFR 311.34 - Anemia.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ...Animal Products 2 2012-01-01 2012-01-01 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...

  15. Pathology Case Study: Macrocytic Anemia

    NSDL National Science Digital Library

    Bahler, David

    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.

  16. Effects of ionizing radiation on cells from Fanconi's anemia patients

    SciTech Connect

    Duckworth-Rysiecki, G.; Taylor, A.M.

    1985-01-01

    The lymphocytes from some Fanconi's anemia patients appeared to be more radiosensitive than normal as measured by the number of X-ray-(or bleomycin-) induced chromosome aberrations seen following G2 treatment. Fibroblasts from the same patients, however, all showed the same degree of colony survival as normals following exposure to gamma-rays (Do, 1.13 +/- 0.072 (S.E.) Gy and 1.14 +/- 0.077 Gy for Fanconi's anemia and normal fibroblasts, respectively). The lack of increased radiosensitivity in Fanconi's fibroblasts was also observed by the same degree of inhibition of DNA synthesis as seen in normals following gamma-irradiation. The results show clearly that there is no increase in radiosensitivity common to all cell types from Fanconi's patients, although an apparent increase in chromosomal radiosensitivity may be seen in the lymphocytes from an occasional patient.

  17. Treatment of autoimmune hemolytic anemias

    PubMed Central

    Zanella, Alberto; Barcellini, Wilma

    2014-01-01

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

  18. Homozygosity mapping of Fanconi anemia

    SciTech Connect

    Gschwend, M.; Botstein, D. [Stanford Univ., CA (United States); Kruglyak, L. [Whitehead Institute, Cambridge, MA (United States)] [and others

    1994-09-01

    Fanconi anemia (FA) is a rare, recessive, genetically heterogeneous disease characterized by progressive insufficiency of the bone marrow and increased cellular sensitivity to DNA crosslinking agents. Complementation tests among different FA cells have indicated the presence of at least 4 FA-causing genes. One of the genes, FACC, was identified by functional complementation but appears unlikely to account for many phenotypically indistinguishable FA caes. We have begun a linkage study of FA using {open_quotes}homozygosity mapping{close_quotes}, a method that involves genotyping with DNA markers on affected individuals whose parents are related. Because FA is a rare recessive disease, it is most likely that probands are homozygous by descent at the disease locus and, therefore, at nearby DNA markers. Although the probability that any given marker will be homozygous in an inbred individual is high, given markers with moderate heterozygosities, the chance that two unrelated inbred individuals will be homozygous at the same marker is considerably lower. By locating overlapping regions of homozygosity between different families we hope to identify genes that cause FA. Sixteen consanguineous non-FACC FA families from the International Fanconi Anemia Registry at Rockefeller University are under study. An efficient algorithm for data analysis was developed and incorporated into software that can quickly compute exact multipoint lod scores using all markers on an entire chromosome. At the time of this writing, 171 of 229 microsatellite markers spaced at 20 cM intervals across the genome have been analyzed.

  19. Anemia

    MedlinePLUS

    ... amount of iron they need. Infants who drink cow's milk in the first year of life are at ... common dietary cause of iron deficiency in infants. Cow’s milk does not have enough of the iron infants ...

  20. Anemia

    MedlinePLUS

    ... up of many parts, including red blood cells, white blood cells, platelets (PLATE-lets), and plasma (the fluid portion of blood). Red blood cells are disc-shaped and look like doughnuts without holes in the center. They carry oxygen and remove ...

  1. Protrusio acetabuli in sickle-cell anemia

    SciTech Connect

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

    1984-04-01

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

  2. The anemia of chronic disease.

    PubMed

    Lee, G R

    1983-04-01

    The anemia of chronic disease (ACD) is defined as a mild anemia associated with a chronic inflammatory, infectious or neoplastic illness and with a characteristic disturbance of iron metabolism. Many of the findings in ACD can be accounted for by release of a monokine called leukocyte endogenous mediator (LEM), endogenous pyrogen, or interleukin-1. This substance is released from "activated" monocytes. Bacterial endotoxins, certain lymphokines and phagocytic challenges are among the factors stimulating its biosynthesis. LEM induces fever, leukocytosis, biosynthesis. LEM induces fever, leukocytosis, and a variety of biochemical changes, including hypoferremia and alterations in plasma protein synthesis, collectively known as the "acute phase response." It is proposed that ACD results from the long-term elaboration of LEM and that release of this material is the common pathogenetic factor found in the illnesses that are associated with ACD. Some suggestions are made for testing the hypothesis. The hypoferremia associated with ACD is probably caused by defective release of iron from cells--particularly from macrophages, but also from hepatocytes and intestinal epithelium. Two possible mechanisms for this abnormality have been proposed: liberation of lactoferrin from neutrophilic leukocytes and induction of apoferritin synthesis. Neither mechanism has been established. Erythrokinetic studies in ACD have detected a modest reduction of erythrocyte survival without an adequate compensatory increase in the rate of red cell production. The reduced erythrocyte survival is probably related to an increase in phagocytic activity by activated macrophages. Impaired bone marrow response is partly related to the restricted iron supply, but there is substantial evidence for an additional defect in erythropoietin secretion. In some malignant diseases, there is evidence of an additional abnormality: impaired marrow response to a normal amount of erythropoietin. The nature of the erythropoietic defects and the relation of LEM to them remain to be established. PMID:6348957

  3. Anemia: progress in molecular mechanisms and therapies.

    PubMed

    Sankaran, Vijay G; Weiss, Mitchell J

    2015-03-01

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

  4. Avoiding Anemia: Boost Your Red Blood Cells

    MedlinePLUS

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

  5. Gametophyte development in Anemia mexicana Klotzsch 

    E-print Network

    Nester, Joan Elizabeth

    1979-01-01

    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...

  6. Transforming growth factor-? superfamily ligand trap ACE-536 corrects anemia by promoting late-stage erythropoiesis.

    PubMed

    Suragani, Rajasekhar N V S; Cadena, Samuel M; Cawley, Sharon M; Sako, Dianne; Mitchell, Dianne; Li, Robert; Davies, Monique V; Alexander, Mark J; Devine, Matthew; Loveday, Kenneth S; Underwood, Kathryn W; Grinberg, Asya V; Quisel, John D; Chopra, Rajesh; Pearsall, R Scott; Seehra, Jasbir; Kumar, Ravindra

    2014-04-01

    Erythropoietin (EPO) stimulates proliferation of early-stage erythrocyte precursors and is widely used for the treatment of chronic anemia. However, several types of EPO-resistant anemia are characterized by defects in late-stage erythropoiesis, which is EPO independent. Here we investigated regulation of erythropoiesis using a ligand-trapping fusion protein (ACE-536) containing the extracellular domain of human activin receptor type IIB (ActRIIB) modified to reduce activin binding. ACE-536, or its mouse version RAP-536, produced rapid and robust increases in erythrocyte numbers in multiple species under basal conditions and reduced or prevented anemia in murine models. Unlike EPO, RAP-536 promoted maturation of late-stage erythroid precursors in vivo. Cotreatment with ACE-536 and EPO produced a synergistic erythropoietic response. ACE-536 bound growth differentiation factor-11 (GDF11) and potently inhibited GDF11-mediated Smad2/3 signaling. GDF11 inhibited erythroid maturation in mice in vivo and ex vivo. Expression of GDF11 and ActRIIB in erythroid precursors decreased progressively with maturation, suggesting an inhibitory role for GDF11 in late-stage erythroid differentiation. RAP-536 treatment also reduced Smad2/3 activation, anemia, erythroid hyperplasia and ineffective erythropoiesis in a mouse model of myelodysplastic syndromes (MDS). These findings implicate transforming growth factor-? (TGF-?) superfamily signaling in erythroid maturation and identify ACE-536 as a new potential treatment for anemia, including that caused by ineffective erythropoiesis. PMID:24658078

  7. Erythroblast apoptosis and microenvironmental iron restriction trigger anemia in the VK*MYC model of multiple myeloma.

    PubMed

    Bordini, Jessica; Bertilaccio, Maria Teresa Sabrina; Ponzoni, Maurilio; Fermo, Isabella; Chesi, Marta; Bergsagel, P Leif; Camaschella, Clara; Campanella, Alessandro

    2015-06-01

    Multiple myeloma is a malignant disorder characterized by bone marrow proliferation of plasma cells and by overproduction of monoclonal immunoglobulin detectable in the sera (M-spike). Anemia is a common complication of multiple myeloma, but the underlying pathophysiological mechanisms have not been completely elucidated. We aimed to identify the different determinants of anemia using the Vk*MYC mouse, which spontaneously develops an indolent bone marrow localized disease with aging. Affected Vk*MYC mice develop a mild normochromic normocytic anemia. We excluded the possibility that anemia results from defective erythropoietin production, inflammation or increased hepcidin expression. Mature erythroid precursors are reduced in Vk*MYC bone marrow compared with wild-type. Malignant plasma cells express the apoptogenic receptor Fas ligand and, accordingly, active caspase 8 is detected in maturing erythroblasts. Systemic iron homeostasis is not compromised in Vk*MYC animals, but high expression of the iron importer CD71 by bone marrow plasma cells and iron accumulation in bone marrow macrophages suggest that iron competition takes place in the local multiple myeloma microenvironment, which might contribute to anemia. In conclusion, the mild anemia of the Vk*MYC model is mainly related to the local effect of the bone marrow malignant clone in the absence of an overt inflammatory status. We suggest that this reproduces the initial events triggering anemia in patients. PMID:25715406

  8. Erythroblast apoptosis and microenvironmental iron restriction trigger anemia in the VK*MYC model of multiple myeloma

    PubMed Central

    Bordini, Jessica; Bertilaccio, Maria Teresa Sabrina; Ponzoni, Maurilio; Fermo, Isabella; Chesi, Marta; Bergsagel, P. Leif; Camaschella, Clara; Campanella, Alessandro

    2015-01-01

    Multiple myeloma is a malignant disorder characterized by bone marrow proliferation of plasma cells and by overproduction of monoclonal immunoglobulin detectable in the sera (M-spike). Anemia is a common complication of multiple myeloma, but the underlying pathophysiological mechanisms have not been completely elucidated. We aimed to identify the different determinants of anemia using the Vk*MYC mouse, which spontaneously develops an indolent bone marrow localized disease with aging. Affected Vk*MYC mice develop a mild normochromic normocytic anemia. We excluded the possibility that anemia results from defective erythropoietin production, inflammation or increased hepcidin expression. Mature erythroid precursors are reduced in Vk*MYC bone marrow compared with wild-type. Malignant plasma cells express the apoptogenic receptor Fas ligand and, accordingly, active caspase 8 is detected in maturing erythroblasts. Systemic iron homeostasis is not compromised in Vk*MYC animals, but high expression of the iron importer CD71 by bone marrow plasma cells and iron accumulation in bone marrow macrophages suggest that iron competition takes place in the local multiple myeloma microenvironment, which might contribute to anemia. In conclusion, the mild anemia of the Vk*MYC model is mainly related to the local effect of the bone marrow malignant clone in the absence of an overt inflammatory status. We suggest that this reproduces the initial events triggering anemia in patients. PMID:25715406

  9. Family structure and child anemia in Mexico.

    PubMed

    Schmeer, Kammi K

    2013-10-01

    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

  10. Fanconi Anemia Proteins and Endogenous Stresses

    PubMed Central

    Pang, Qishen; Andreassen, Paul R.

    2009-01-01

    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

  11. Anemia in elderly hospitalized patients: prevalence and clinical impact.

    PubMed

    Migone De Amicis, Margherita; Poggiali, Erika; Motta, Irene; Minonzio, Francesca; Fabio, Giovanna; Hu, Cinzia; Cappellini, Maria Domenica

    2015-08-01

    Anemia is a common finding in elderly individuals. Several studies have shown a strong relationship between anemia, morbidity and mortality, suggesting anemia as a significant independent predictor of adverse outcome in elderly hospitalized patients. The pathophisiology of anemia in the elderly is not yet completely understood. Several mechanisms are involved. We investigated the prevalence of anemia in a cohort of 193 elderly patients admitted to the Internal Medicine Ward of Ca'Granda Policlinico Hospital along 6 months, and its relationship to comorbidities and to the length of hospitalization. Anemia was classified according to the WHO criteria. The majority of patients (48 %) had a mildmoderate, normocytic anemia; severe anemia was found in 8 out of 92 anemic patients. In a subgroup of patients erythropoietin was tested and resulted statistically higher if compared to non-anemic controls (p = 0.003). Considering the most common cause of anemia, nutritional deficiency, chronic renal disease and anemia of chronic disease were found respectively in 36, 15 and 25 % of cases. Unexplained anemia was diagnosed in 24 % of patients, according to the literature. Anemia was independently associated with increased length of hospital stay. Our study confirmed a high prevalence of anemia in elderly patients, and its association with a higher number of comorbidities and a longer stay. A correct clinical approach to anemia in elderly hospitalized patients is essential, considering its negative impact on patients' quality of life, and its social burden in term of healthcare needs and costs. PMID:25633233

  12. Role of hepcidin in the pathophysiology and diagnosis of anemia

    PubMed Central

    2013-01-01

    This review summarizes the central role of hepcidin in the iron homeostasis mechanism, the molecular mechanism that can alter hepcidin expression, the relationship between hepcidin and erythropoiesis, and the pathogenetic role of hepcidin in different types of anemia. In addition, the usefulness of hepcidin dosage is highlighted, including the problems associated with analytical methods currently used as well as the measures of its molecular isoforms. Considering the central role of hepcidin in iron arrangement, it is reasonable to ponder its therapeutic use mainly in cases of iron overload. Further clinical trials are required before implementation. PMID:23589789

  13. Anemia, tumor hypoxemia, and the cancer patient

    SciTech Connect

    Varlotto, John [Department of Radiation Oncology, Boston VA Medical Center, Boston, MA (United States) and Department of Radiation Oncology, Beth (Israel) and Deaconess Medical Center, Harvard Medical School, Boston, MA (United States)]. E-mail: jvarlott@bidmc.harvard.edu; Stevenson, Mary Ann [Department of Radiation Oncology, Boston VA Medical Center, Boston, MA (United States); Department of Radiation Oncology, Beth Israel/Deaconess Medical Center, Harvard Medical School, Boston, MA (United States)

    2005-09-01

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

  14. Anemia management in patients receiving chronic hemodialysis.

    PubMed

    Thakuria, Mayuri; Ofsthun, Norma J; Mullon, Claudy; Diaz-Buxo, Jose A

    2011-01-01

    Anemia treatment in hemodialysis-dependent (HDD) CKD patients involves adequate supply of iron and an erythropoiesis-stimulating agent (ESA). Despite widespread usage of these agents, there is no generally accepted "standard dosing algorithm" for treating anemia in HDD-CKD patients. The new anemia Quality Incentive Program (QIP) introduced by the Centers for Medicare & Medicaid Services represents a motivation to standardize and harmonize iron and ESA regimens with interactive electronic algorithms and novel modes of deliveries for IV iron and ESA doses. In addition, quality assessment and performance improvement programs at dialysis facilities include achieving measurable improvement in health outcomes, healthcare cost, and reductions in medical errors. Thus, the Corporate Medical Advisory Board for Fresenius Medical Services (FMS) is evaluating an anemia algorithm that will be incorporated into the automated workflow of a new clinical system at FMS clinics. In the future, such systems might communicate with medication pumps incorporated into state-of-the-art HD machines, thereby eliminating manual data entry of medication orders and other potential errors related to data entry or administration of medications such as ESA and IV iron. In addition, the CritLine III TQA Monitor, which allows real-time blood volume, oxygen, and anemia monitoring during HD in acute and chronic settings, may become an integrated diagnostic tool to improve volume and anemia management through better fluid management and ESA dose adjustment algorithms. These novel interactive electronic algorithms, delivery and monitoring methods, and data transfer may be integrated in the Pharmatech process to meet patient-specific anemia therapy. PMID:21999745

  15. Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

    PubMed

    Waye, J S; Eng, B

    2015-05-01

    Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is essential for hematopoiesis. KLF1 mutations have been associated with severe hematologic disorders, including congenital dyserythropoietic anemia type IV (CDAN4) due to a dominant-negative missense mutation (c.973G>A, p.Glu325Lys) and transfusion-dependent hemolytic anemia in compound heterozygotes for loss-of-function mutations. In addition, several benign hematologic conditions are due to KLF1 haploinsufficiency. Herein, we review the genotype-phenotype relationship associated with KLF1 mutations and discuss the utility of KLF1 gene testing in laboratory hematology. PMID:25976964

  16. Bacillus cereus bacteremia and hemolytic anemia in a patient with hemoglobin SC disease.

    PubMed

    Rodgers, G M; Barrera, E; Martin, R R

    1980-08-01

    A patient with hemoglobin SC disease and cholelithiasis was found to have Bacillus cereus bacteremia. Hemolytic anemia developed, for which common causes of hemolysis were excluded, suggesting a relationship with the bacteremia. Following in vitro incubation, type O erythrocytes were hemolyzed by the culture, but not by a bacteria-free filtrate. This case confirms the association between sickle cell disorders and cholelithiasis with B cereus infections. In addition, it provides evidence for in vivo hemolysis with B cereus bacteremia, an organism not previously associated with hemolytic anemia. PMID:6772119

  17. Anemia among school children in eastern Nepal.

    PubMed

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

    2015-06-01

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

  18. For Parents of Children with Diamond Blackfan Anemia

    MedlinePLUS

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

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

    MedlinePLUS

    ... 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 ...

  20. Published Reports of Delayed Hemolytic Anemia After Treatment...

    Science.gov Websites

    artesunate be followed for 4 weeks after treatment and evaluated for hemolytic anemia. A literature search was performed using the terms "artesunate" and either "hemolytic anemia"...

  1. Congenital Non-Spherocytic Hemolytic Anemia

    PubMed Central

    Zipursky, A.; Rowland, Marlene; Peters, J. C.; Israels, L. G.

    1965-01-01

    A family with congenital non-spherocytic hemolytic anemia associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency was studied. Two females, heterozygous for the enzyme deficency, had evidence of a hemolytic anemia. The results of chromium-51 erythrocyte life span studies prior to, during, and after periods of primaquine administration suggested that the hemolytic anemia in these women was due to the presence of two populations of red blood cells in their circulation. One population had normal G6PD levels and a normal life span, whereas the other had diminished enzyme activity and a shortened life span. In vitro metabolic studies of the erythrocytes of a heterozygous female and a hemizygous male suggested that, in spite of G6PD deficiency, the synthesis and breakdown of adenosine triphosphate and 2,3-diphosphoglyceric acid was similar to that in normal erythrocytes. PMID:5320918

  2. Hemophagocytosis causes a consumptive anemia of inflammation

    PubMed Central

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

    2011-01-01

    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

  3. Diagnosis of fanconi anemia by diepoxybutane analysis.

    PubMed

    Auerbach, Arleen D

    2015-01-01

    Fanconi anemia (FA) is a genetically and phenotypically heterogeneous disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer, particularly hematological malignancies and solid tumors of the head and neck. The main role of FA proteins is in the repair of DNA interstrand crosslinks (ICLs). FA results from pathogenic variants in at least sixteen distinct genes, causing genomic instability. Although the highly variable phenotype makes accurate diagnosis on the basis of clinical manifestations difficult in some patients, diagnosis based on a profound sensitivity to DNA-crosslinking agents can be used to identify the pre-anemia patient as well as patients with aplastic anemia or leukemia who may or may not have the physical stigmata associated with the syndrome. Diepoxybutane (DEB) analysis is the preferred test for FA because other agents have higher rates of false-positive and false-negative results. © 2015 by John Wiley & Sons, Inc. PMID:25827349

  4. Managing Anemia in the Cancer Patient: Old Problems, Future Solutions

    Microsoft Academic Search

    MICHAEL S. GORDON

    Anemia and associated symptoms commonly mani- fest in cancer patients and may have a considerable impact on outcomes. Preliminary studies suggest that overall survival and locoregional control following radi- ation therapy may be compromised by anemia, and recent preliminary data also suggest that anemia may be related to poorer outcomes following chemotherapy. Health-related quality of life of cancer patients is

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

    E-print Network

    Lummaa, Virpi

    Short Report Menstruation Does Not Cause Anemia: Endometrial Thickness Correlates Positively for iron-deficiency anemia. This study tested whether normal, premenopausal women's luteal endometrial), and therefore whether a high ET put women at risk for anemia. Endometrial thickness can be con- sidered

  6. Photosensitivity, abnormal porphyrin profile, and sideroblastic anemia.

    PubMed

    Lim, H W; Cooper, D; Sassa, S; Dosik, H; Buchness, M R; Soter, N A

    1992-08-01

    Cutaneous photosensitivity in a 43-year-old man with idiopathic sideroblastic anemia associated with an abnormal porphyrin profile is reported. This condition was associated with elevated free erythrocyte porphyrin, plasma protoporphyrin, urine porphyrins (predominantly coproporphyrin), stool porphyrins (predominantly protoporphyrin), decreased ferrochelatase activity, and deletion of portions of the long arms of chromosomes 18 and 20. Five other patients with sideroblastic anemia and abnormal porphyrin profiles have been described; all but one of these patients had photosensitivity. The porphyrin profile of this patient is similar to that of three other previously described patients. PMID:1517489

  7. Cyclical iron supplementation to reduce anemia among Brazilian preschoolers: a randomized controlled trial

    PubMed Central

    2013-01-01

    Background Iron-deficiency anemia is the most common type of nutritional disorder. New strategies for the treatment of anemia are very important for its reduction. The aim of this study was to assess the efficacy and feasibility of cyclical iron supplementation as a strategy to reduce the prevalence of anemia among preschoolers. Methods A randomized controlled trial was performed in the entire population of under five-year-old children who attended government daycare centers in a small town in the State of Sao Paulo, Brazil. The children were randomly allocated into two intervention groups: the Weekly and Cyclical Groups. During a ten-month period, the Weekly Group (n?=?51) received weekly doses of 30?mg elemental iron (40 doses) and the Cyclical Group (n?=?48) received two cycles of 20 daily doses of 30?mg elemental iron separated by a four-month period (40 doses). Results Overall, at the end of ten months, the prevalence of anemia of the children on both supplementation regimens showed a significant decrease from 20.20% to 5.05% (p-value?anemia between the two groups (p-value?=?0.35). The mean hemoglobin concentration increased by 0.27?g/dL (p-value?anemia however administration of the Cyclical Group was easier to carry out and control. Clinical trial registration number NCT00992823 PMID:23305566

  8. Iron-deficiency anemia caused by a proton pump inhibitor.

    PubMed

    Hashimoto, Rintaro; Matsuda, Tomoki; Chonan, Akimichi

    2014-01-01

    A 59-year-old man was orally administered rabeprazole, a proton pump inhibitor (PPI), for gastroesophageal reflux disease, after which he gradually developed iron-deficiency anemia. The anemia did not improve following the administration of ferrous fumarate, and endoscopic screening of the entire gastrointestinal tract, including the small intestine, did not reveal any findings indicating the cause of the anemia. The patient was then switched from rabeprazole to famotidine and the anemia was cured within three months. There is much debate as to whether the long-term use of PPIs causes iron-deficiency. However, this case strongly suggests that PPIs can induce iron-deficiency anemia. PMID:25318791

  9. Hepcidin-dependent and hepcidin-independent regulation of erythropoiesis in a mouse model of anemia of chronic inflammation

    PubMed Central

    Langdon, Jacqueline M.; Yates, Saiah C.; Femnou, Laurette K.; McCranor, Bryan J.; Cheadle, Chris; Xue, Qian-Li; Vaulont, Sophie; Civin, Curt I.; Walston, Jeremy D.; Roy, Cindy N.

    2014-01-01

    Increased hepcidin antimicrobial peptide correlates with hypoferremia and anemia in various disease states, but its requirement for anemia of inflammation has not been adequately demonstrated. Anemia of inflammation is usually described as normocytic and normochromic, while diseases associated with over expression of hepcidin, alone, are often microcytic and hypochromic. These differences in erythrocyte parameters suggest anemia in many inflammatory states may not be fully explained by hepcidin-mediated iron sequestration. We used turpentine-induced sterile abscesses to model chronic inflammation in mice with targeted disruption of Hepcidin 1 [Hepc1 (?/?)] or its positive regulator, lnterleukin-6 [IL-6 (?/?)], to determine whether these genes are required for features characteristic of anemia of inflammation. Although hemoglobin levels did not decline in Hepc1 (?/?) mice with sterile abscesses, erythrocyte numbers were significantly reduced compared to untreated Hepc1 (?/?) mice. In contrast, both hemoglobin concentration and erythrocyte number declined significantly in wild type and IL-6 (?/?) mice with sterile abscesses. Both Hepc1 (?/?) and IL-6 (?/?) mice had increased erythrocyte mean cell volume and mean cell hemoglobin following sterile abscesses, while wild types had no change. Thus, IL-6 (?/?) mice with sterile abscesses exhibit an intermediate phenotype between wild type and Hepc1 (?/?). Our results demonstrate the requirement of Hepc1 for the development of anemia in this rodent model. Simultaneously, our results demonstrate hepcidin-independent effects of inflammation on the suppression of erythropoiesis. Our results suggest chronic anemia associated with inflammation may benefit from interventions protecting erythrocyte number in addition to anti-hepcidin interventions aimed at enhancing iron availability. PMID:24415655

  10. Benign gastric ulceration in pernicious anemia

    Microsoft Academic Search

    J. Reid; T. V. Taylor; S. Holt; R. C. Heading

    1980-01-01

    Summary Benign gastric ulceration occurred in a patient with pernicious anemia in association with aspirin therapy. Previous reports of benign gastric ulceration in patients with achlorhydria are reviewed, and the potential role of aspirin in the pathogenesis of benign ulceration in the absence of acid is discussed.

  11. [Disseminated lymphangiomatosis: a rare cause of anemia].

    PubMed

    Ben Abdallah Chabchoub, R; Kamoun, F; Hidouri, S; Nouri, A; Hachicha, M; Mahfoudh, A

    2015-04-01

    Disseminated lymphangiomatosis is a congenital lymphovenous vascular malformation. It can occur in different regions, some of which are unusual. The treatment of this vascular malformation is based on surgical excision, sclerotherapy, or recombinant interferon therapy. We report the case of disseminated lymphangiomatosis in a 13-year-old girl who presented with anemia. PMID:25725973

  12. Hb F in sickle cell anemia

    Microsoft Academic Search

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

    1993-01-01

    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

  13. Bone Marrow Transplantation for Fanconi Anemia

    Microsoft Academic Search

    Eliane Gluckrnan; Arleen D. Auerbach; Mary M. Horowitz; Kathleen A. Sobocinski; Robert C. Ash; Mortimer M. Bortin; Anna Butturini; Bruce M. Carnitta; Richard E. Charnplin; Wilhelrn Friedrich; Robert A. Good; Edward C. Gordon-Smith; Richard E. Harris; John P. Klein; Juan J. Ortega; Ricardo Pasquini; Norma K. C. Rarnsay; Bruno Speck; Marcus R. Vowels; Mei-Jie Zhang; Robert Peter Gale

    1995-01-01

    Fanconi anemia is a genetic disorder associated with diverse congenital abnormalities, progressive bone marrow failure, and increased risk of leukemia and other cancers. Affected persons often die before 30 years of age. Bone marrow trans- plantation is an effective treatment, but there are few data regarding factors associated with transplant outcome. We analyzed outcomes of HLA-identical sibling (N = 151)

  14. Lung function in children with sickle cell anemia.

    PubMed

    Wall, M A; Platt, O S; Strieder, D J

    1979-07-01

    Lung volumes and expiratory flows were measured in 12 children with sickle cell anemia and 12 height-matched black control subjects. Diffusing capacity of the lung for CO, pulmonary capillary blood volume, the membrane component of diffusing capacity, arterial blood gases on breathing room air and 100 per cent O2 were measured in the subjects with sickle cell anemia. The lung volumes and expiratory flows of subjects with sickle cell anemia were no different from those of the control subjects. Diffusing capacity for CO was maintined in the noraml range despite the severe anemia by increases in pulmonary capillary blood volume and the membrane component of diffusing capacity. All subjects with sickle cell anemia had mild hypoxemia and abnormal increases in calculated shunt. Pulmonary function in children with sickle cell anemia appears to be determined by their race and anemia. PMID:464381

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

    PubMed Central

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

    2013-01-01

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

  16. Peroxiredoxin II is essential for preventing hemolytic anemia from oxidative stress through maintaining hemoglobin stability.

    PubMed

    Han, Ying-Hao; Kim, Sun-Uk; Kwon, Tae-Ho; Lee, Dong-Seok; Ha, Hye-Lin; Park, Doo-Sang; Woo, Eui-Jeon; Lee, Sang-Hee; Kim, Jin-Man; Chae, Ho-Byoung; Lee, Sang Yeol; Kim, Bo Yeon; Yoon, Do Young; Rhee, Sue Goo; Fibach, Eitan; Yu, Dae-Yeul

    2012-09-28

    The pathophysiology of oxidative hemolytic anemia is closely associated with hemoglobin (Hb) stability; however, the mechanism of how Hb maintains its stability under oxidative stress conditions of red blood cells (RBCs) carrying high levels of oxygen is unknown. Here, we investigated the potential role of peroxiredoxin II (Prx II) in preventing Hb aggregation induced by reactive oxygen species (ROS) using Prx II knockout mice and RBCs of patients with hemolytic anemia. Upon oxidative stress, ROS and Heinz body formation were significantly increased in Prx II knockout RBCs compared to wild-type (WT), which ultimately accelerated the accumulation of hemosiderin and heme-oxygenase 1 in the Prx II knock-out livers. In addition, ROS-dependent Hb aggregation was significantly increased in Prx II knockout RBCs. Interestingly, Prx II interacted with Hb in mouse RBCs, and their interaction, in particular, was severely impaired in RBCs of patients with thalassemia (THAL) and sickle cell anemia (SCA). Hb was bound to the decameric structure of Prx II, by which Hb was protected from oxidative stress. These findings suggest that Prx II plays an important role in preventing hemolytic anemia from oxidative stress by binding to Hb as a decameric structure to stabilize it. PMID:22960070

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

    PubMed Central

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

    2015-01-01

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

  18. Schilling evaluation of pernicious anemia: current status

    SciTech Connect

    Zuckier, L.S.; Chervu, L.R.

    1984-09-01

    The Schilling examination remains a popular means of evaluating in vivo absorption of vitamin B/sub 12/. When absorption is abnormally low, the test may be repeated with addition to exogenous intrinsic factor (IF) in order to correct the IF deficiency that characterizes pernicious anemia. A dual-isotope variation provides a means of performing both stages of the test simultaneously, thereby speeding up the test and reducing dependence on complete urine collection. In vivo studies indicate that, when administered simultaneously, the absorption of unbound B/sub 12/ is elevated, and IF-bound B/sub 12/ is reduced, in pernicious-anemia patients, relative to the classic two-stage examination. A number of clinical studies indicate significant difficulty in resolving clincial diagnoses with the dual-tracer test. An algorithm is offered for selecting the most suitable variation of the Schilling test to improve the accuracy of test results and the ease of performance.

  19. Prediction of S-1-induced anemia

    Microsoft Academic Search

    Hyun Cheol Chung

    2009-01-01

    S-1, a novel oral fluoropyrimidine, has shown remarkably good tolerability in Korean gastric and colorectal cancer patients\\u000a due to its favorable safety profile. Myelosuppression and diarrhea were the events that precluded dose escalation in Japan,\\u000a whereas gastrointestinal toxicity and skin reaction were the major limiting factors in Western countries. In contrast, the\\u000a major adverse event in Korean patients was anemia,

  20. Gametophyte development in Anemia mexicana Klotzsch

    E-print Network

    Nester, Joan Elizabeth

    1979-01-01

    . Anther i di a were first initiated, 1 9 to 27 days after sowing . Antheridia were present on gametophytes with and without notched meristems and were morphologically similar to those of other Anemia species. Some notched gametophytes lacked antheridia... terminated antheridia formation and had begun to form archegonia. After 60 days, six variations in ga ietophyte morphology were displayed: 1. with notched meristem and antheridia, 76%%u, 2. with notched mer istem and archegonia, 6%, 3. with notched...

  1. The relationship of aplastic anemia and PNH

    Microsoft Academic Search

    Neal S. Young; Jaroslaw P. Maciejewski; Elaine Sloand; Guiben Chen; Weihua Zeng; Antonio Risitano; Akira Miyazato

    2002-01-01

    Bone marrow failure has been regarded as one of the triad of clinical manifestations of paroxysmal nocturnal hemoglobinuria\\u000a (PNH), and PNH in turn has been described as a late clonal disease evolving in patients recovering from aplastic anemia. Better\\u000a understanding of the pathophysiology of both diseases and improved tests for cell surface glycosylphosphatidylinositol (GPI)-linked\\u000a proteins has radically altered this view.

  2. Urology and nephrology update: anemia of chronic kidney disease.

    PubMed

    Fiore, David C; Fox, Cara-Louise

    2014-01-01

    Anemia is associated with chronic kidney disease (CKD) at all stages, and it is nearly universal among patients with stage 5 CKD. Nonetheless, anemia of CKD is a diagnosis of exclusion. When anemia is detected in a patient with CKD, etiologies other than CKD must be considered and ruled out. Iron deficiency also is common among patients with CKD, and iron replenishment improves the anemia and the response to erythropoiesis-stimulating agents. Current guidelines for managing anemia of CKD recommend a hemoglobin goal of 11 to 12 g/dL, but lower hemoglobin may be acceptable for asymptomatic patients. Some patients do not benefit from erythropoiesis-stimulating agents, or they lose their responsiveness to treatment and transfusions must be considered. Other agents are being investigated as management for anemia of CKD, with vitamin C (ascorbic acid) showing some promise. PMID:24432707

  3. Reassessment of the microcytic anemia of lead poisoning

    SciTech Connect

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

    1981-06-01

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

  4. Diagnosis of Fanconi anemia in patients with bone marrow failure

    PubMed Central

    Pinto, Fernando O.; Leblanc, Thierry; Chamousset, Delphine; Le Roux, Gwenaelle; Brethon, Benoit; Cassinat, Bruno; Larghero, Jérôme; de Villartay, Jean-Pierre; Stoppa-Lyonnet, Dominique; Baruchel, André; Socié, Gérard; Gluckman, Eliane; Soulier, Jean

    2009-01-01

    Background Patients with bone marrow failure and undiagnosed underlying Fanconi anemia may experience major toxicity if given standard-dose conditioning regimens for hematopoietic stem cell transplant. Due to clinical variability and/or potential emergence of genetic reversion with hematopoietic somatic mosaicism, a straightforward Fanconi anemia diagnosis can be difficult to make, and diagnostic strategies combining different assays in addition to classical breakage tests in blood may be needed. Design and Methods We evaluated Fanconi anemia diagnosis on blood lymphocytes and skin fibroblasts from a cohort of 87 bone marrow failure patients (55 children and 32 adults) with no obvious full clinical picture of Fanconi anemia, by performing a combination of chromosomal breakage tests, FANCD2-monoubiquitination assays, a new flow cytometry-based mitomycin C sensitivity test in fibroblasts, and, when Fanconi anemia was diagnosed, complementation group and mutation analyses. The mitomycin C sensitivity test in fibroblasts was validated on control Fanconi anemia and non-Fanconi anemia samples, including other chromosomal instability disorders. Results When this diagnosis strategy was applied to the cohort of bone marrow failure patients, 7 Fanconi anemia patients were found (3 children and 4 adults). Classical chromosomal breakage tests in blood detected 4, but analyses on fibroblasts were necessary to diagnose 3 more patients with hematopoietic somatic mosaicism. Importantly, Fanconi anemia was excluded in all the other patients who were fully evaluated. Conclusions In this large cohort of patients with bone marrow failure our results confirmed that when any clinical/biological suspicion of Fanconi anemia remains after chromosome breakage tests in blood, based on physical examination, history or inconclusive results, then further evaluation including fibroblast analysis should be made. For that purpose, the flow-based mitomycin C sensitivity test here described proved to be a reliable alternative method to evaluate Fanconi anemia phenotype in fibroblasts. This global strategy allowed early and accurate confirmation or rejection of Fanconi anemia diagnosis with immediate clinical impact for those who underwent hematopoietic stem cell transplant. PMID:19278965

  5. A novel ubiquitin ligase is deficient in Fanconi anemia

    Microsoft Academic Search

    Amom Ruhikanta Meetei; Johan P de Winter; Annette L Medhurst; Michael Wallisch; Quinten Waisfisz; Henri J van de Vrugt; Anneke B Oostra; Zhijiang Yan; Chen Ling; Colin E Bishop; Maureen E Hoatlin; Hans Joenje; Weidong Wang

    2003-01-01

    Fanconi anemia is a recessively inherited disease characterized by congenital defects, bone marrow failure and cancer susceptibility. Cells from individuals with Fanconi anemia are highly sensitive to DNA-crosslinking drugs, such as mitomycin C (MMC). Fanconi anemia proteins function in a DNA damage response pathway involving breast cancer susceptibility gene products, BRCA1 and BRCA2 (refs. 1,2). A key step in this

  6. 21 CFR 250.201 - Preparations for the treatment of pernicious anemia.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ...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...

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

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ...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...

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

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ...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...

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

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ...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...

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

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ...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...

  11. ACOG Practice Bulletin No. 95: anemia in pregnancy.

    PubMed

    2008-07-01

    Anemia, the most common hematologic abnormality, is a reduction in the concentration of erythrocytes or hemoglobin in blood. The two most common causes of anemia in pregnancy and the puerperium are iron deficiency and acute blood loss. Iron requirements increase during pregnancy, and a failure to maintain sufficient levels of iron may result in adverse maternal-fetal consequences. The purpose of this document is to provide a brief overview of the causes of anemia in pregnancy, review iron requirements, and provide recommendations for screening and clinical management of anemia during pregnancy. PMID:18591330

  12. Biomarkers for the differentiation of anemia and their clinical usefulness

    PubMed Central

    Northrop-Clewes, Christine A; Thurnham, David I

    2013-01-01

    The World Health Organization defines anemia as the point at which the amount of hemoglobin in the circulation falls below World Health Organization cutoffs for specific age and sex groups. Anemia is a worldwide problem of complex etiology and is associated with many factors. The purpose of this review was to describe the biomarkers used to identify the nature of anemia in patients and in the community. The important biomarkers are the automated red cell counts, tests for nutritional deficiencies, hemoglobinopathies, and inflammation. Diseases are important potential initiators of anemia, but biomarkers of specific diseases are not included in this review, only the underlying feature common to all disease – namely, inflammation. PMID:23687454

  13. Equine Infectious Anemia Virus Entry Occurs through Clathrin-Mediated Endocytosis

    Microsoft Academic Search

    Melinda A. Brindley; Wendy Maury

    2008-01-01

    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

  14. An Equine Infectious Anemia Virus Variant Superinfects Cells through Novel Receptor Interactions

    Microsoft Academic Search

    Melinda A. Brindley; Baoshan Zhang; Ronald C. Montelaro; Wendy Maury

    2008-01-01

    Wild-type strains of equine infectious anemia virus (EIAV) prevent superinfection of previously infected cells. A variant strain of virus that spontaneously arose during passage, EIAVvMA-1c, can circumvent this mechanism in some cells, such as equine dermis (ED) cells, but not in others, such as equine endothelial cells. EIAVvMA-1c superinfection of ED cells results in a buildup of unintegrated viral DNA

  15. Antibody escape kinetics of equine infectious anemia virus infection of horses.

    PubMed

    Schwartz, Elissa J; Nanda, Seema; Mealey, Robert H

    2015-07-01

    Lentivirus escape from neutralizing antibodies (NAbs) is not well understood. In this work, we quantified antibody escape of a lentivirus, using antibody escape data from horses infected with equine infectious anemia virus. We calculated antibody blocking rates of wild-type virus, fitness costs of mutant virus, and growth rates of both viruses. These quantitative kinetic estimates of antibody escape are important for understanding lentiviral control by antibody neutralization and in developing NAb-eliciting vaccine strategies. PMID:25878104

  16. Clinical efficacy of two forms of intravenous iron--saccharated ferric oxide and cideferron--for iron deficiency anemia.

    PubMed

    Araki, T; Takaai, M; Miyazaki, A; Ohshima, S; Shibamiya, T; Nakamura, T; Yamamoto, K

    2012-12-01

    Over 90% of iron deficiency anemia cases are due to iron deficiency associated with depletion of stored iron or inadequate intake. Parenteral iron supplementation is an important part of the management of anemia, and some kinds of intravenous iron are used. However, few studies have evaluated the clinical efficacy of these drugs. The purpose of this study was to compare and assess the clinical efficacy of two types of intravenous iron injection, saccharated ferric oxide (SFO) and cideferron (CF). Medical records were obtained for 91 unrelated Japanese anemia patients treated with SFO (n = 37) or CF (n = 54) from May 2005 to May 2010 at Gunma University Hospital. Patients treated with blood transfusion, erythropoietin or oral iron were excluded. Hemoglobin (Hb) values measured on day 0, 7 and 14 were used to assess the efficacy of intravenous irons. A significant increase was observed in the mean Hb value by day 14 of administration in both the CF group and SFO group, and the mean Hb increase due to administration of CF for 7 days was comparable to that of SFO for 14 days. Age and sex did not affect improvement of Hb value. CF is fast acting and highly effective compared with SFO for the treatment of iron deficiency anemia. The use of CF may shorten a therapeutic period for iron deficiency anemia, and CF may be feasible for reducing the hospitalization period. PMID:23346769

  17. Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome

    PubMed Central

    Moore, Joseph B.; Farrar, Jason E.; Arceci, Robert J.; Liu, Johnson M.; Ellis, Steven R.

    2010-01-01

    Background Diamond-Blackfan anemia and Shwachman-Diamond syndrome are inherited bone marrow failure syndromes linked to defects in ribosome synthesis. The purpose of this study was to determine whether yeast models for Diamond-Blackfan anemia and Shwachman-Diamond syndrome differed in the mechanism by which ribosome synthesis was affected. Design and Methods Northern blotting, pulse-chase analysis, and polysome profiling were used to study ribosome synthesis in yeast models. Localization of 60S ribosomal subunits was assessed using RPL25eGFP. Results Relative to wild-type controls, each disease model showed defects in 60S subunit maturation, but with distinct underlying mechanisms. In the model of Diamond-Blackfan anemia, 60S subunit maturation was disrupted at a relatively early stage with abortive complexes subject to rapid degradation. 5S ribosomal RNA, unlike other large subunit ribosomal RNA in this model, accumulated as an extra-ribosomal species. In contrast, subunit maturation in the Shwachman-Diamond syndrome model was affected at a later step, giving rise to relatively stable pre-60S particles with associated 5S ribosomal RNA retained in the nucleus. Conclusions These differences between the yeast Diamond-Blackfan anemia and Shwachman-Diamond syndrome models have implications for signaling mechanisms linking abortive ribosome assembly to cell fate decisions and may contribute to the divergent clinical presentations of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. PMID:19713223

  18. Effect of Correction of Anemia on Echocardiographic and Clinical Parameters in Patients With Aortic Stenosis Involving a Three-Cuspid Aortic Valve and Normal Left Ventricular Ejection Fraction.

    PubMed

    Gómez, Miquel; Ble, Mireia; Cladellas, Mercedes; Molina, Luis; Comín-Colet, Josep; Enjuanes, Cristina; Roqueta, Cristina; Soler, Cristina; Bruguera, Jordi

    2015-07-15

    The objective of the study is to investigate the impact of anemia (defined as hemoglobin concentration of <12 g/dl in women and 13 g/dl in men) on prognosis and to study the effect of recovery from anemia on echocardiographic and clinical parameters in patients with aortic stenosis (AS). This was a prospective study in 315 patients with moderate or severe AS. Patients with anemia received oral iron (ferrous sulfate with mucoproteose, 160 mg iron/day) and erythropoietin, if needed, or intravenous iron, if necessary. The following tests were performed before and after normalization of hemoglobin values: echocardiogram, 6-minute walk test, N-terminal B-type natriuretic peptide, and measures of depression, cognitive impairment, and dependence. Patient mean age was 74 years (SD 9). Mean follow-up was 25 months (SD 8). Anemia prevalence in the overall group was 22% (n = 70). Patients who are anemic had a higher rate of complications at follow-up (mortality, hospital admission, or need for valve procedure; 80% vs 62%, p = 0.009). In total, 89% of patients recovered from anemia, with a mean time to recovery of 4.6 weeks (SD 1.4). Improvements were observed on echocardiographic parameters of peak velocity (4.1 to 3.7 m/s, p = 0.02) and mean gradient (44 to 35 mm Hg, p = 0.02). Performance on the 6-minute walk test improved from 235 to 303 m (p <0.001). Median N-terminal B-type natriuretic peptide value decreased from 612 to 189 pg/dl (p <0.001). In conclusion, patients with AS and anemia have a worse prognosis than those without anemia. Resolution of anemia is associated with improvements in echocardiographic parameters and functional status, suggesting that treatment of iron deficiency is a relevant option in the management of patients with AS, particularly in nonoperable cases. PMID:25983280

  19. Treatment of anemia with darbepoetin alfa in heart failure.

    PubMed

    Abraham, William T; Anand, Inder S; Klapholz, Marc; Ponikowski, Piotr; Scarlata, Debra; Wasserman, Scott M; van Veldhuisen, Dirk J

    2010-01-01

    Anemia is common in heart failure (HF) patients. A prespecified pooled analysis of 2 randomized, double-blind, placebo-controlled studies evaluated darbepoetin alfa (DA) in 475 anemic patients with HF (hemoglobin [Hb], 9.0-12.5 g/dL). DA was administered subcutaneously every 2 weeks and titrated to achieve and maintain a target Hb level of 14.0+/-1.0 g/dL. By week 27, mean (SD) Hb concentrations did not increase with placebo but increased with DA from 11.5 (0.7) to 13.3 (1.3) g/dL. Hazard ratios (HRs) for DA compared with placebo for all-cause death or first HF hospitalization (composite end point), all-cause death, and HF hospitalization by month 12 were 0.67 (95% confidence interval [CI], 0.44-1.03; P=.067), 0.76 (95% CI, 0.39-1.48; P=.419), and 0.66 (95% CI, 0.40-1.07; P=.093), respectively. Incidence of adverse events was similar in both groups. In post hoc analyses, improvement in the composite end point was significantly associated with the mean Hb change from baseline (adjusted HR, 0.40; P=.017) with DA treatment. There was no increased risk of all-cause mortality or first HF hospitalization with DA in patients with reduced renal function or elevated baseline B-type natriuretic peptide, a biomarker of worse HF. These results suggest that DA is well tolerated, corrects HF-associated anemia, and may have favorable effects on clinical outcomes. PMID:20557327

  20. Iron, anemia and hepcidin in malaria

    PubMed Central

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

    2014-01-01

    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

  1. Translational efficiency in patients with Diamond-Blackfan anemia

    Microsoft Academic Search

    Jana Cmejlova; Ludmila Dolezalova; Dagmar Pospisilova; Kvetoslava Petrtylova; Jiri Petrak; Radek Cmejla

    2006-01-01

    Background and Objectives. Diamond-Blackfan anemia (DBA) is a rare congenital pure red cell aplasia characterized by normochromic macrocytic anemia, reticulocytopenia, and normocellular bone marrow with a selective deficiency of erythroid precursors. Ribosomal protein S19 (RPS19), currently the only gene associated with DBA, is mutat- ed in 25% of DBA patients, but its role in erythropoiesis is unknown. We attempted to

  2. Cardiac Manifestations in Thiamine-Responsive Megaloblastic Anemia Syndrome

    Microsoft Academic Search

    A. Lorber; A. Z. Gazit; A. Khoury; Y. Schwartz; H. Mandel

    2003-01-01

    Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. Other features of this syndrome gradually develop. We describe three TRMA patients with heart rhythm abnormalities and structural cardiac anomalies. Eight other reported TRMA patients also had cardiac anomalies. Recently,

  3. X-linked inheritance of Fanconi anemia complementation group B

    Microsoft Academic Search

    Amom Ruhikanta Meetei; Marieke Levitus; Yutong Xue; Annette L Medhurst; Michel Zwaan; Chen Ling; Martin A Rooimans; Patrick Bier; Maureen Hoatlin; Gerard Pals; Johan P de Winter; Weidong Wang; Hans Joenje

    2004-01-01

    Fanconi anemia is an autosomal recessive syndrome characterized by diverse clinical symptoms, hypersensitivity to DNA crosslinking agents, chromosomal instability and susceptibility to cancer. Fanconi anemia has at least 11 complementation groups (A, B, C, D1, D2, E, F, G, I, J, L); the genes mutated in 8 of these have been identified. The gene BRCA2 was suggested to underlie complementation

  4. Neurologic Complications After Allogeneic Marrow Transplantation for Sickle Cell Anemia

    Microsoft Academic Search

    Mark C. Walters; Keith M. Sullivan; Francoise Bernaudin; Gerard Souillet; Jean-Pierre Vannier; F. Leonard Johnson; Carl Lenarsky; Darleen Powars; Nancy Bunin; Kwaku Ohene-Frempong; Donna Wall; G. Michel; E. Plouvier; P. Bodigoni; P. Lutz; Jean E. Sanders; Dana C. Matthews; Frederick R. Appelbaum; Rainer Storb

    1995-01-01

    ARROW transplantation from HLA-identical siblings is effective therapy in children with nonmalignant disorders, including aplastic anemia, congenital immunode- ficiency syndromes, thalassemia major, and certain inborn errors of metabolism.',2 Its use in the treatment of sickle cell anemia has been limited to date but initial reports confirm that bone marrow transplantation is curative treatment for this di~order.~\\

  5. Etiology of Strokes in Children with Sickle Cell Anemia

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  6. Convergence of the Fanconi Anemia and Ataxia Telangiectasia Signaling Pathways

    Microsoft Academic Search

    Toshiyasu Taniguchi; Irene Garcia-Higuera; Bo Xu; Paul R. Andreassen; Richard C. Gregory; Seong-Tae Kim; Michael B. Kastan; Alan D. D'Andrea

    2002-01-01

    Fanconi anemia (FA) and ataxia telangiectasia (AT) are clinically distinct autosomal recessive disorders characterized by spontaneous chromosome breakage and hematological cancers. FA cells are hypersensitive to mitomycin C (MMC), while AT cells are hypersensitive to ionizing radiation (IR). Here, we identify the Fanconi anemia protein, FANCD2, as a link between the FA and ATM damage response pathways. ATM phosphorylates FANCD2

  7. The Fanconi Anemia Polypeptide FACC is Localized to the Cytoplasm

    Microsoft Academic Search

    Takayuki Yamashita; Dwayne L. Barber; Yuan Zhu; Nan Wu; Alan D. D'Andrea

    1994-01-01

    Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, aplastic anemia, and chromosomal instability. A cDNA encoding the FA complementation group C (FACC) polypeptide was recently cloned [Strathdee, C. A., Gavish, H., Shannon, W. R. & Buchwald, M. (1992) Nature (London) 356, 763-767]. To further characterize this polypeptide, we generated a rabbit polyclonal antiserum against its carboxyl

  8. Management and prevention of neonatal anemia: current evidence and guidelines.

    PubMed

    von Lindern, Jeannette S; Lopriore, Enrico

    2014-04-01

    Neonatal anemia is a common disorder, particularly in (very) preterm neonates. Management of neonatal anemia is based principally on red blood cell (RBC) transfusion. Although the use of blood products is nowadays widespread in neonatal medicine, evidence on the potential benefit is extremely limited. Recent studies suggest that RBC transfusions in newborns may be associated with an increased risk for necrotizing enterocolitis, transfer of infectious agents and negative effects on neurodevelopmental outcome. Whether the benefits of RBC transfusions outweigh the risks is controversial and requires further studies. In this review, we summarize the current evidence on the management of neonatal anemia and compare the various international guidelines. In addition, we discuss the various strategies to prevent neonatal anemia and reduce the need for RBC transfusions and discuss important trials currently enrolling patients to improve the management in neonatal anemia. PMID:24524256

  9. Occurrence of hemolytic anemia in patients with GBS treated with high-dose IVIg

    PubMed Central

    Biliciler, Suur; Wahed, Amer; Sheikh, Kazim

    2014-01-01

    Objective: We describe an underrecognized side effect of high-dose IV immunoglobulin (IVIg), hemolytic anemia. Background: There are no established guidelines on treating patients with Guillain-Barré syndrome (GBS) who relapse or do not improve after a standard course of treatment (IVIg or plasma exchange). Some centers will opt for a second course of the initial treatment. There is an ongoing trial of a second course of IVIg in patients with severe GBS. Methods: We retrospectively reviewed 4 patients with severe GBS who received high-dose IVIg. One patient inadvertently received a high dose of IVIg for Miller Fisher syndrome. All patients received a total of at least 2 courses of the standard dose of IVIg (total >4 g/kg). We review their clinical course and side effects. Results: All patients with non-O blood types developed clinically significant hemolytic anemia requiring blood transfusion. Conclusion: Hemolytic anemia may limit doses of IVIg for treatment of severe GBS in patients with non-O blood types. PMID:25520957

  10. Microfluidic approach of Sickled Cell Anemia

    NASA Astrophysics Data System (ADS)

    Abkarian, Manouk; Loiseau, Etienne; Massiera, Gladys

    2012-11-01

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

  11. Impaired function of Fanconi anemia type C-deficient macrophages.

    PubMed

    Liu, Ying; Ballman, Kimberly; Li, Deqiang; Khan, Shehnaz; Derr-Yellin, Ethel; Shou, Weinian; Haneline, Laura S

    2012-02-01

    FA is a genetic disorder characterized by BM failure, developmental defects, and cancer predisposition. Previous studies suggest that FA patients exhibit alterations in immunologic function. However, it is unclear whether the defects are immune cell-autonomous or secondary to leukopenia from evolving BM failure. Given the central role that macrophages have in the innate immune response, inflammation resolution, and antigen presentation for acquired immunity, we examined whether macrophages from Fancc-/- mice exhibit impaired function. Peritoneal inflammation induced by LPS or sodium periodate resulted in reduced monocyte/macrophage recruitment in Fancc-/- mice compared with WT controls. Fancc-/- mice also had decreased inflammatory monocytes mobilized into the peripheral blood after LPS treatment compared with controls. Furthermore, Fancc-/- peritoneal macrophages displayed cell-autonomous defects in function, including impaired adhesion to FN or endothelial cells, reduced chemoattractant-mediated migration, and decreased phagocytosis. Moreover, dysregulated F-actin rearrangement was detected in Fancc-/- macrophages after adhesion to FN, which was consistent with an observed reduction in RhoA-GTP levels. Importantly, these data suggest that impaired cytoskeletal rearrangements in Fancc-/- macrophages may be the common mechanism responsible for cell-autonomous defects detected in vitro, as well as altered monocyte/macrophage trafficking in vivo. PMID:22106009

  12. Blood . Author manuscript Iron-deficiency anemia from matriptase-2 inactivation is dependent on the

    E-print Network

    Boyer, Edmond

    Blood . Author manuscript Page /1 6 Iron-deficiency anemia from matriptase-2 inactivation (characterized by increased hepcidin levels and anemia) and mice (exhibitingTmprss6 /- - Bmp6 /- - severe iron deficiency anemia are due to excess signaling through the Bmp6/Hjv pathway. MESH Keywords Anemia, Iron

  13. Simplification of an Erythropoiesis Model for Design of Anemia Management Protocols in End Stage Renal Disease

    E-print Network

    Massachusetts at Amherst, University of

    Simplification of an Erythropoiesis Model for Design of Anemia Management Protocols in End Stage be used for anemia management protocol (AMP) design based on formal feedback control methods. · In end of anemia; EPO resistance is often observed. A shortened RBC life-span further contributes to the anemia

  14. Prevalence of Anemia and Underlying Iron Status in Naive Antiretroviral Therapy HIV-Infected Children with Moderate Immune Suppression

    PubMed Central

    Bunupuradah, Torsak; Vonthanak, Saphonn; Wiangnon, Surapon; Hansudewechakul, Rawiwan; Vibol, Ung; Kanjanavanit, Suparat; Ngampiyaskul, Chaiwat; Wongsawat, Jurai; Luesomboon, Wicharn; Lumbiganon, Pagakrong; Sopa, Bunruan; Apornpong, Tanakorn; Chuenyam, Theshinee; Cooper, David A.; Ruxrungtham, Kiat; Ananworanich, Jintanat; Puthanakit, Thanyawee

    2012-01-01

    Abstract Anemia is common in HIV-infected children and iron deficiency is thought to be a common cause. This study investigates the prevalence of anemia, thalassemia, and underlying iron status in Thai and Cambodian children without advanced HIV disease to determine the necessity of routine iron supplementation. Antiretroviral (ARV)-naive HIV-infected Asian children aged 1–12 years, with CD4 15–24%, CDC A or B, and hemoglobin (Hb) ?7.5?g/dl were eligible for the study. Iron studies, serum ferritin, Hb typing, and C-reactive protein were assessed. Anemia was defined as Hb <11.0?g/dl in children <5 years of age or <11.5?g/dl in children 5–12 years. We enrolled 299 children; 57.9% were female and the mean (SD) age was 6.3 (2.9) years. The mean (SD) CD4% and HIV-RNA were 20% (4.6) and 4.6 (0.6) log10 copies/ml, respectively. The mean (SD) Hb and serum ferritin were 11.2 (1.1) g/dl and 78.3 (76.4) ?g/liter, respectively. The overall iron deficiency anemia (IDA) prevalence was 2.7%. One hundred and forty-eight (50%) children had anemia, mostly of a mild degree. Of these, 69 (46.6%) had the thalassemia trait, 62 (41.8%) had anemia of chronic disease (ACD), 9 (6.1%) had thalassemia diseases, 3 (2.0%) had iron deficiency anemia, and 5 (3.4%) had IDA and the thalassemia trait. The thalassemia trait was not associated with increased serum ferritin levels. Mild anemia is common in ARV-naďve Thai and Cambodian children without advanced HIV. However, IDA prevalence is low; with the majority of cases caused by ACD. A routine prescription of iron supplement in anemic HIV-infected children without laboratory confirmation of IDA should be discouraged, especially in regions with a high prevalence of thalassemia and low prevalence of IDA. PMID:22734817

  15. Rapid progression of acquired amegakaryocytic thrombocytopenia to aplastic anemia.

    PubMed

    King, J A; Elkhalifa, M Y; Latour, L F

    1997-01-01

    Acquired amegakaryocytic thrombocytopenia is a rare disorder characterized by severe thrombocytopenia and selective, marked decrease or absence of megakaryocytes. Although immunosuppressive therapy (prednisone and/or antithymocyte globulin) has been shown to induce remissions in a subset of patients, most patients do not respond, and progression to aplastic anemia occurs in some cases. We report a case of acquired amegakaryocytic thrombocytopenia which, despite aggressive immunosuppressive treatment, rapidly progressed to aplastic anemia. Clinical, laboratory, and immunologic features of our patient's case are described and compared to those of the previously reported six cases that progressed from amegakaryocytic thrombocytopenia to aplastic anemia. PMID:9003837

  16. The Fanconi anemia-BRCA Pathway and Cancer

    Microsoft Academic Search

    Toshiyasu Taniguchi

    \\u000a The Fanconi anemia (FA)-BRCA pathway has emerged as an important pathway in cancer biology. Fanconi anemia (FA) is a rare\\u000a genetic disease characterized by aplastic anemia, developmental defects, cancer susceptibility and cellular hypersensitivity\\u000a to interstrand DNA crosslinking agents. Thirteen FA genes have been identified (FANCA, FANCB, FANCC, FANCD1\\/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ\\/BRIP1, FANCL,\\u000a FANCM, and FANCN\\/PALB2). The FA

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

    PubMed

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

    2013-01-01

    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

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

    PubMed Central

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

    2013-01-01

    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

  19. Ubiquitylation and the Fanconi anemia pathway.

    PubMed

    Garner, Elizabeth; Smogorzewska, Agata

    2011-09-16

    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

  20. How I treat Diamond-Blackfan anemia

    PubMed Central

    Muir, Ellen

    2010-01-01

    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

  1. Assessing Chaos in Sickle Cell Anemia Crises

    NASA Astrophysics Data System (ADS)

    Harris, Wesley; Le Floch, Francois

    2006-11-01

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

  2. [Cardiopulmonary complications in sickle cell anemia].

    PubMed

    Rojas-Jiménez, Sara; Lopera-Valle, Johan; Yabur-Espítia, Mirna

    2013-01-01

    Sickle cell anemia, considered the most prevalent genetic disease among African Americans, is a disease with autosomal recessive inheritance pattern, characterized by the production of hemoglobin S. This abnormal protein polymerizes and facilitates the formation of fibrillar aggregates that alters the erythrocyte morphology. The stiffness of the red blood cells hinders the adequate transit across microcirculation, leading to hemolysis and increased blood viscosity, which ease thrombogenesis and vascular occlusion, resulting in tissue ischemia and microinfarcts. This disease has a high rate of morbidity and mortality, especially in the first three years of life, when a rapid diagnosis and appropriate treatment are essential. Cardiovascular complications such as heart failure and pulmonary hypertension may develop independently, and each one contributes to increased mortality, being the combination of both risk factors, an important aggravating factor for prognosis and a determinant indicator of mortality. PMID:24215682

  3. Duodenal perforation: an unusual complication of sickle cell anemia

    PubMed Central

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

    2014-01-01

    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. PMID:25422692

  4. [Prevalence and treatment of anemia in critically ill patients].

    PubMed

    Muńoz, M; Leal-Noval, S R; García-Erce, J A; Naveira, E

    2007-10-01

    Anemia is a common condition among medical and surgical patients admitted to the intensive care unit (ICU) and generally has a multifactorial origin. In order to avoid the deleterious effects of anemia, 40% of ICU patients receive allogenic blood transfusion (ABT). This figure increases up to 70% if the ICU stay is longer than 7 days. However, ABT is associated with a dose-dependent increase in morbidity and mortality. In contrast, the administration of exogenous erythropoietin plus iron supplements, especially iv iron, improves anemia and reduces ABT requirements, although it does not reduce mortality. To ascertain whether treatment of anemia in the critically ill with exogenous erythropoietin and iron might improve outcomes and to optimize drug administration schedules and dosage, further studies with sufficient statistical power and adequate follow-up are warranted. PMID:17942062

  5. Diphyllobothrium pacificum Infection is Seldom Associated with Megaloblastic Anemia

    PubMed Central

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

    2012-01-01

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

  6. Altered translation of GATA1 in Diamond-Blackfan anemia

    E-print Network

    Ludwig, Leif S

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

  7. Studies of the restriction of Equine Infectious Anemia Virus 

    E-print Network

    Geyer, David Scott

    1981-01-01

    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...

  8. [Pancytopenia, Hemolytic Anemia and Schizocytes: a Pragmatic Approach].

    PubMed

    Gökok, Nil; Stalder, Grégoire; Alberio, Lorenzo; Lamy, Olivier; Schwotzer, Nora

    2015-07-01

    A 58 year old woman presents with a progressive fatigue and dyspnea associated with paresthesia. Laboratory tests show pancytopenia with hypersegmented neutrophiles, macrocytic hyporegenerative anemia and arguments for hemolysis, in particular highly increased LDH. This constellation strongly suggests vitamin B12 deficiency, which was confirmed with an undetectable cobalamine concentration in the blood of our patient. The etiologic work up shows the presence of anti-parietal cells antibodies at a titer of 1/640, diagnostic of Biermer anemia. PMID:26135726

  9. Sickle cell anemia causes a distinct pattern of glomerular dysfunction

    Microsoft Academic Search

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

    1997-01-01

    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

  10. Discontinuing penicillin prophylaxis in children with sickle cell anemia

    Microsoft Academic Search

    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

    1995-01-01

    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

  11. C. elegans: A model of Fanconi anemia and ICL repair

    Microsoft Academic Search

    Jillian L. Youds; Louise J. Barber; Simon J. Boulton

    2009-01-01

    Fanconi anemia (FA) is a severe recessive disorder with a wide range of clinical manifestations [M. Levitus, H. Joenje, J.P. de Winter, The Fanconi anemia pathway of genomic maintenance, Cell Oncol. 28 (2006) 3–29]. In humans, 13 complementation groups have been identified to underlie FA: A, B, C, D1, D2, E, F, G, I, J, L, M, and N [W.

  12. Recombinant human erythropoietin in the treatment of nonrenal anemia

    Microsoft Academic Search

    Michael Heuser; Arnold Ganser

    2006-01-01

    Recombinant human erythropoietins (rhEPO) reliably increase hemoglobin levels in cancer patients experiencing chemotherapy-associated\\u000a anemia. However, in patients with “anemia of cancer” not being treated with chemotherapy, rhEPO appears less effective. Recently,\\u000a two studies have been broadly discussed which have raised concern on the concomitant use of erythropoietin and chemo- or radiation\\u000a therapy in cancer patients. In addition, use of rhEPO

  13. Relationship Between Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria

    Microsoft Academic Search

    Taroh Kinoshita; Norimitsu Inoue

    2002-01-01

    Since aplastic anemia—paroxysmal nocturnal hemoglobinuria syndrome was reported in 1967, the overlap of idiopathic aplastic\\u000a anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) has been well known.The link between the 2 diseases became even\\u000a more evident when immunosuppressive therapy improved survival of patients with severe AA. More than 10% of patients with AA\\u000a develop clinically evident PNH. Moreover, flow cytometric analysis

  14. Pernicious anemia in a young man with systemic lupus erythematosus.

    PubMed

    Benjilali, L; Tazi-Mezalek, Z; Harmouche, H; Lebbar, K; Aouni, M; Adnaoui, M; Maaouni, A

    2007-01-01

    Association of pernicious anemia and systemic lupus erythematosus is rare, although both diseases are autoimmune origin. We describe the case of a 40-year old man with systemic lupus erythematosus (SLE) who developed pernicious anemia. The cobalamin deficiency was revealed by macrocytic pancytopenia. After 1 month of vitamin B12 treatment, hemoglobin and white blood cell count remain normal but thrombocytopenia persists and was considered as immunologic from SLE origin requiring corticosteroids. PMID:17895307

  15. Secondary Hyperparathyroidism and Anemia in Children Treated by Hemodialysis

    PubMed Central

    Smith, Lorie B.; Fadrowski, Jeffrey J.; Howe, Chanelle J.; Fivush, Barbara A.; Neu, Alicia M.; Furth, Susan L.

    2009-01-01

    Background Many patients treated with hemodialysis remain anemic despite exogenous erythropoietin therapy, suggesting the anemia experienced by these patients is multifactorial in etiology. Iron deficiency, infection, inflammation, and malnutrition have been implicated in this process. Additionally, secondary hyperparathyroidism has been associated with anemia in adults, but little data exists on this topic in children. Study Design Cross-sectional, retrospective. Setting & Participants Children treated in hemodialysis centers (N=588) within the Center for Medicare & Medicaid Services’ (CMS) 2002 Clinical Performance Measures (CPM) Project. Predictor Intact parathyroid hormone (iPTH) assessed in October, November, and December 2001 and categorized as quintiles. Outcomes & Measurements Achievement of a serum hemoglobin ?11 g/dl was assessed by Poisson regression adjusting for sex, age, race, dialysis vintage, vascular access type, single-pool Kt/V, serum albumin, normalized protein catabolic rate (nPCR), calcium-phosphorus product, and erythropoietin alpha dose. Results Using the second quintile (iPTH 103–224 pg/ml) as the reference quintile, there was no association between quintile of iPTH and achievement of the hemoglobin goal: 1st quintile prevalence ratio (95% confidence interval) 1.0 (0.9, 1.2); 3rd quintile 0.95 (0.8, 1.1); 4th quintile 0.99 (0.8, 1.2); 5th quintile 0.97 (0.8, 1.1). Only serum albumin ? 3.5 g/dl (Bromocresol Green assay method) or ? 3.2 g/dl (Bromocresol Purple assay method) was significantly associated with meeting the hemoglobin goal 1.4 (1.2, 1.6). Limitations The simultaneous collection of iPTH and hemoglobin limits causal inference. Iron stores and iron therapy are potential confounders not accounted for in this study. Conclusions In the largest study on this topic in children, there was no association found between iPTH levels and achievement of a hemoglobin ? 11g/dl. Serum albumin was strongly associated with achievement of the hemoglobin goal. PMID:20116689

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

    PubMed Central

    Rogler, Gerhard; Vavricka, Stephan

    2015-01-01

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

  17. Nitrite-induced anemia in channel catfish, Ictalurus punctatus Rafinesque

    SciTech Connect

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

    1989-08-01

    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.

  18. Altered translation of GATA1 in Diamond-Blackfan anemia

    PubMed Central

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

    2014-01-01

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

  19. Treatment of patients with sickle cell anemia--another view.

    PubMed

    Charache, S; Moyer, M A

    1982-01-01

    Sickle cell anemia is a bad disease, and it occurs in black patients who still face obstacles that whites don't appreciate. Even if a new cure burst forth, it would not be available to many patients, and others would be afraid of it. It probably would not be as safe or effective as chloroquine for malaria or penicillin for pneumonia--and as a result, we should try to improve our present means for delivering care. Treatable complications must be recognized, and painful episodes must be managed with knowledge that no type of pain is exclusively physical or mental. If patients are to function in society, they must have marketable skills--and the current educational system in the United States is not prepared to provide such skills to such difficult students. Finally, there will be some lost souls, hopeless patients who live a shadowy life from which rescue seems nearly impossible. They need specialized care which is not currently available. Such care in special protected environments could be cost-effective, but would require such prolonged enthusiasm and commitment that it may be impossible to achieve. PMID:7146022

  20. Phagocytosis, Oxidative Burst, and Produced Reactive Species are Affected by Iron Deficiency Anemia and Anemia of Chronic Diseases in Elderly

    Microsoft Academic Search

    I. M. M. Paino; J. C. Miranda; C. M. Marzocchi-Machado; E. J. Cesarino; F. A. de Castro; A. M. de Souza

    2009-01-01

    Iron and oxidative stress have a regulatory interplay. During the oxidative burst, phagocytic cells produce free radicals\\u000a such as hypochlorous acid (HOCl). Nevertheless, scarce studies evaluated the effect of either iron deficiency anemia (IDA)\\u000a or anemia of chronic disease (ACD) on phagocyte function in the elderly. The aim of the present study was to determine the\\u000a oxidative burst, phagocytosis, and

  1. Direct laser trapping for measuring the behavior of transfused erythrocytes in a sickle cell anemia patient

    PubMed Central

    Pellizzaro, Aline; Welker, Gabriel; Scott, David; Solomon, Rance; Cooper, James; Farone, Anthony; Farone, Mary; Mushi, Robert S.; Aguinaga, Maria del Pilar; Erenso, Daniel

    2012-01-01

    Using a laser trap, we have studied the properties of erythrocytes from a sickle cell anemia patient (SCA) after receiving an intravenous blood transfusion, and a normal adult individual carrying normal adult hemoglobin. The hemoglobin type and quantitation assessment was carried out by high performance liquid chromatography (HPLC). We conducted an analysis of the size distributions of the cells. By targeting those erythrocytes in the overlapping regions of size distributions, we have investigated their properties when the cells are trapped and released. The efficacy of the transfusion treatment is also studied by comparing the relative changes in deformation and the relaxation-time of the cells in the two samples. PMID:23024913

  2. Role of monocyte-acquired hemozoin in suppression of macrophage migration inhibitory factor in children with severe malarial anemia.

    PubMed

    Awandare, Gordon A; Ouma, Yamo; Ouma, Collins; Were, Tom; Otieno, Richard; Keller, Christopher C; Davenport, Gregory C; Hittner, James B; Vulule, John; Ferrell, Robert; Ong'echa, John M; Perkins, Douglas J

    2007-01-01

    Severe malarial anemia (SMA), caused by Plasmodium falciparum infections, is one of the leading causes of childhood mortality in sub-Saharan Africa. Although the molecular determinants of SMA are largely undefined, dysregulation in host-derived inflammatory mediators influences disease severity. Macrophage migration inhibitory factor (MIF) is an important regulator of innate inflammatory responses that has recently been shown to suppress erythropoiesis and promote pathogenesis of SMA in murine models. To examine the role of MIF in the development of childhood SMA, peripheral blood MIF production was examined in Kenyan children (aged <3 years, n = 357) with P. falciparum malarial anemia. All children in the study were free from bacteremia and human immunodeficiency virus type 1. Since deposition of malarial pigment (hemozoin [Hz]) contributes to suppression of erythropoiesis, the relationship between MIF concentrations and monocytic acquisition of Hz was also examined in vivo and in vitro. Circulating MIF concentrations declined with increasing severity of anemia and significantly correlated with peripheral blood leukocyte MIF transcripts. However, MIF concentrations in peripheral blood were not significantly associated with reticulocyte production. Multivariate regression analyses, controlling for age, gender, and parasitemia, further revealed that elevated levels of pigment-containing monocytes (PCM) was associated with SMA and decreased MIF production. In addition, PCM levels were a better predictor of hemoglobin and MIF concentrations than parasite density. Additional experiments in malaria-naive individuals demonstrated that hemozoin caused both increased and decreased MIF production in cultured peripheral blood mononuclear cells (PBMC) in a donor-specific manner, independent of apoptosis. However, PBMC MIF production in children with acute malaria progressively declined with increasing anemia severity. Results presented here demonstrate that acquisition of hemozoin by monocytes is associated with suppression of peripheral blood MIF production and enhanced severity of anemia in childhood malaria. PMID:17060471

  3. Autoimmune hemolytic anemia in chronic mucocutaneous candidiasis.

    PubMed Central

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

    1994-01-01

    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

  4. Recent advances in treatment of aplastic anemia

    PubMed Central

    Shin, Seung Hwan; Lee, Sung Eun

    2014-01-01

    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

  5. Direct antiglobulin ("Coombs") test-negative autoimmune hemolytic anemia: a review.

    PubMed

    Segel, George B; Lichtman, Marshall A

    2014-04-01

    We have reviewed the literature to identify and characterize reports of warm-antibody type, autoimmune hemolytic anemia in which the standard direct antiglobulin reaction was negative but a confirmatory test indicated that the red cells were opsonized with antibody. Three principal reasons account for the absence of a positive direct antiglobulin test in these cases: a) IgG sensitization below the threshold of detection by the commercial antiglobulin reagent, b) low affinity IgG, removed by preparatory washes not conducted at 4°C or at low ionic strength, and c) red cell sensitization by IgA alone, or rarely (monomeric) IgM alone, but not accompanied by complement fixation, and thus not detectable by a commercial antiglobulin reagent that contains anti-IgG and anti-C3. In cases in which the phenotype is compatible with warm-antibody type, autoimmune hemolytic anemia and the direct antiglobulin test is negative, an alternative method to detect low levels of IgG sensitization, use of 4°C, low ionic strength washes to prepare the cells for the direct antiglobulin test reaction to permit retention and identification of low affinity IgG antibodies, and, if the latter are uninformative, testing for sensitization with an anti-IgA, and, if necessary, an anti-IgM reagent identifies cases of warm-antibody type, immune hemolysis not verified by a commercial reagent. PMID:24411920

  6. Iron deficiency anemia in patients with inflammatory bowel disease.

    PubMed

    Goldberg, Neil D

    2013-01-01

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

  7. Iron deficiency anemia in patients with inflammatory bowel disease

    PubMed Central

    Goldberg, Neil D

    2013-01-01

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

  8. New strategies for managing anemia of chronic kidney disease.

    PubMed

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

    2012-12-01

    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

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

    SciTech Connect

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

    1980-08-01

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

  10. Thiamine-Responsive Megaloblastic Anemia Syndrome: A Disorder of High-Affinity Thiamine Transport

    Microsoft Academic Search

    Ellis J. Neufeld; Judith C. Fleming; Elena Tartaglini; Mara P. Steinkamp

    2001-01-01

    ABSTRACTThiamine-responsive megaloblastic anemia (TRMA) syndrome (OMIM No. 249270) comprises a distinctive triad of clinical features: megaloblastic anemia with ringed sideroblasts, diabetes mellitus, and progressive sensorineural deafness. The TRMA gene has been mapped and cloned. Designated \\

  11. Autoimmune hemolytic anemia: From lab to bedside.

    PubMed

    Chaudhary, R K; Das, Sudipta Sekhar

    2014-01-01

    Autoimmune hemolytic anemia (AIHA) is not an uncommon clinical disorder and requires advanced, efficient immunohematological and transfusion support. Many AIHA patients have underlying disorder and therefore, it is incumbent upon the clinician to investigate these patients in detail, as the underlying condition can be of a serious nature such as lymphoproliferative disorder or connective tissue disorder. Despite advances in transfusion medicine, simple immunohematological test such as direct antiglobulin test (DAT) still remains the diagnostic hallmark of AIHA. The sensitive gel technology has enabled the immunohematologist not only to diagnose serologically such patients, but also to characterize red cell bound autoantibodies with regard to their class, subclass and titer in a rapid and simplified way. Detailed characterization of autoantibodies is important, as there is a relationship between in vivo hemolysis and strength of DAT; red cell bound multiple immunoglobulins, immunoglobulin G subclass and titer. Transfusing AIHA patient is a challenge to the immunohematologist as it is encountered with difficulties in ABO grouping and cross matching requiring specialized serological tests such as alloadsorption or autoadsorption. At times, it may be almost impossible to find a fully matched unit to transfuse these patients. However, transfusion should not be withheld in a critically ill patient even in the absence of compatible blood. The "best match" or "least incompatible units" can be transfused to such patients under close supervision without any serious side-effects. All blood banks should have the facilities to perform the necessary investigations required to issue "best match" packed red blood cells in AIHA. Specialized techniques such as elution and adsorption, which at times are helpful in enhancing blood safety in AIHA should be established in all transfusion services. PMID:24678166

  12. Prevention of anemia alleviates heart hypertrophy in copper deficient rats

    SciTech Connect

    Lure, M.D.; Fields, M.; Lewis, C.G. (Dept. of Agriculture, Beltsville, MD (United States) Univ. of Maryland, College Park (United States) Georgetown Univ., Washington, DC (United States))

    1991-03-11

    The present investigation was designed to examine the role of anemia in the cardiomegaly and myocardial pathology of copper deficiency. Weanling rats were fed a copper deficient diet containing either starch (ST) or fructose (FRU) for five weeks. Six rats consuming the FRU diet were intraperitoneally injected once a week with 1.0 ml/100g bw of packed red blood cells (RBC) obtained from copper deficient rats fed ST. FRU rats injected with RBC did not develop anemia. Additionally, none of the injected rats exhibited heart hypertrophy or gross pathology and all survived. In contrast, non-injected FRU rats were anemic, exhibited severe signs of copper deficiency which include heart hypertrophy with gross pathology, and 44% died. Maintaining the hematocrit with RBC injections resulted in normal heart histology and prevented the mortality associated with the fructose x copper interaction. The finding suggest that the anemia associated with copper deficiency contributes to heart pathology.

  13. nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse

    Microsoft Academic Search

    R. S. Ohgami; D R Campagna; B Antiochos; E B Wood; J J Sharp; J E Barker; M D Fleming

    2005-01-01

    Hypochromic, microcytic anemias are typically the result of inadequate hemoglobin production because of globin defects or iron deficiency. Here, we describe the phenotypic characteristics and pathogenesis of a new recessive, hypochromic, microcytic anemia mouse mutant, nm1054. Although the mutation nm1054 is pleiotropic, also resulting in sparse hair, male infertility, failure to thrive, and hydrocephaly, the anemia is the focus of

  14. Germ Line Fanconi Anemia Complementation Group C Mutations and Pancreatic Cancer

    Microsoft Academic Search

    Fergus J. Couch; Michele R. Johnson; Kari Rabe; Lisa Boardman; Robert McWilliams; Mariza de Andrade; Gloria Petersen

    Biallelic mutations in Fanconi anemia complementation group genes disrupt DNA repair and result in the complex Fanconi anemia phenotype. In addition, germ line mutations in the BRCA2\\/FANCD1 Fanconi anemia complementation group gene have also been implicated in predisposition to a number of cancers including pancreatic cancer. The recent identification of FANCC and FANCG mutations in resected pancreatic tumors selected for

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

    ERIC Educational Resources Information Center

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

    2012-01-01

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

  16. ForPeerReview Molecular basis of Diamond-Blackfan anemia

    E-print Network

    Paris-Sud XI, Université de

    ForPeerReview Molecular basis of Diamond-Blackfan anemia: Structure and function analysis of RPS19 basis of Diamond-Blackfan anemia: Structure and function analysis of RPS19 Running title : Crystal) Diamond-Blackfan anemia (DBA) is a rare congenital disease linked to mutations in the ribosomal protein

  17. 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

  18. Plenary paper Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9,

    E-print Network

    Plenary paper Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required D. D'Andrea Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with eight Introduction Fanconi anemia (FA) is an autosomal recessive cancer suscepti- bility syndrome characterized

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

    E-print Network

    Valafar, Faramarz

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

  20. Lenoir et al., 1 Iron deficiency anemia due to matriptase-2 inactivation is dependent upon

    E-print Network

    Paris-Sud XI, Université de

    Lenoir et al., 1 1 Iron deficiency anemia due to matriptase-2 inactivation is dependent upon, hepcidin, anemia, Bmp6, hemojuvelin inserm-00552073,version1-5Jan2011 Author manuscript, published by increased hepcidin levels and anemia) and Bmp6-/- mice (exhibiting severe iron overload due to hepcidin

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

    E-print Network

    Aldrin, Magne

    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; infectious disease dynamics; spatio-temporal point processes; partial likelihood; infectious salmon anemia

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

    E-print Network

    Vekilov, Peter

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

  3. Hierarchical Models for Screening of Iron Deficiency Anemia Technical Report No. 99--14

    E-print Network

    Smyth, Padhraic

    Hierarchical Models for Screening of Iron Deficiency Anemia Technical Report No. 99--14 Department and Background Anemia, a reduction in the circulating red cell mass that may diminish the oxygen­carrying capacity of the blood, is one of the most common medical problems. For diagnostic evalu­ ation of anemia

  4. Zinc deficiency anemia and effects of zinc therapy in maintenance hemodialysis patients.

    PubMed

    Fukushima, Tatsuo; Horike, Hideyuki; Fujiki, Shigeatsu; Kitada, Shingo; Sasaki, Tamaki; Kashihara, Naoki

    2009-06-01

    Quantitative adjuvant zinc therapy using polaprezinc was performed to examine the correlation between zinc concentration and anemia in maintenance hemodialysis patients to propose appropriate treatment. Anemia and serum zinc concentration were measured in 117 patients with chronic renal failure receiving outpatient maintenance hemodialysis at Tsuyama Chuo Kinen Hospital. Two bags of polaprezinc (containing zinc 34 mg/day) were administered to 58 patients with lower than normal zinc levels (Zn < 80 mg/dl) as adjuvant zinc therapy to assess anemia improvement. Zinc concentration and all anemia parameters showed significant positive correlation, indicating that anemia improves in patients with high serum zinc levels. Regarding the effects of adjuvant zinc therapy for improving anemia, hemoglobin levels were found to increase significantly to the highest value at 3 weeks. During treatment, the dosage of erythropoietin was reduced significantly from baseline at all assessment points. No zinc poisoning from therapy was seen, but two patients had diarrhea (1.9%). Zinc-treated patients required iron therapy due to the development of iron deficiency. Most maintenance hemodialysis patients suffer from zinc deficiency anemia, and zinc-based polaprezinc has been confirmed to be an effective and safe adjuvant zinc treatment. Most patients diagnosed as refractory anemia with no response to erythropoietin also suffer from zinc deficiency anemia, many of whom are expected to benefit from zinc therapy to improve their anemia. Possible zinc deficiency anemia should be considered in the treatment of refractory anemia with no response to erythropoietin. PMID:19527468

  5. The erythrocyte sedimentation rate in induced canine anemia 

    E-print Network

    Gowing, Gene M

    1961-01-01

    for the deere. e of . " "ASTI ri OF ROIEJ'sC I gugust 1961 I ajor. '-ubject: Keterinary . ". edi inc and Surgery THE ETC HROCYTE SEDIMENTATION RATE IN INDUCED CANINE ANEMIA cn 4 Z p 0 Cti 0 A Thesis By GENE MARTIN GOWING Approved as to style...&. -ll inter- face, dc creased cell size?chang&. s in hemoglobin content, increased globulin fraction nf thr serum protein, and simple anemia, 1he lattrr factor has created a perplexing problem in the interpn. :? tation of the ESR in the pr& eence...

  6. Development of a fluorescent antibody test for equine infectious anemia 

    E-print Network

    Lester, Thomas Lee

    1972-01-01

    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...

  7. The erythrocyte sedimentation rate in induced canine anemia

    E-print Network

    Gowing, Gene M

    1961-01-01

    for the deere. e of . " "ASTI ri OF ROIEJ'sC I gugust 1961 I ajor. '-ubject: Keterinary . ". edi inc and Surgery THE ETC HROCYTE SEDIMENTATION RATE IN INDUCED CANINE ANEMIA cn 4 Z p 0 Cti 0 A Thesis By GENE MARTIN GOWING Approved as to style...&. -ll inter- face, dc creased cell size?chang&. s in hemoglobin content, increased globulin fraction nf thr serum protein, and simple anemia, 1he lattrr factor has created a perplexing problem in the interpn. :? tation of the ESR in the pr& eence...

  8. Development of a fluorescent antibody test for equine infectious anemia

    E-print Network

    Lester, Thomas Lee

    1972-01-01

    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...

  9. Thiamine responsive megaloblastic anemia syndrome: A novel homozygous SLC19A2 gene mutation identified.

    PubMed

    Mikstiene, Violeta; Songailiene, Jurgita; Byckova, Jekaterina; Rutkauskiene, Giedre; Jasinskiene, Edita; Verkauskiene, Rasa; Lesinskas, Eugenijus; Utkus, Algirdas

    2015-07-01

    Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare autosomal recessive disorder especially in countries where consanguinity is uncommon. Three main features are characteristic of the disease - megaloblastic anemia, early onset deafness, and non-type I diabetes. TRMAS is a Mendelian disorder; a gene SLC19A2 coding high affinity thiamine transporter mediating vitamin B1 uptake through cell membrane has been identified. We present the first patient with TRMAS in Lithuania - a 3-year-old boy born to a non-consanguineous family with a novel homozygous SLC19A2 gene mutation. The patient had insulin dependent diabetes (onset 11 months), respiratory illness (onset 11 months), bilateral profound hearing loss (onset at 7 months, verified at 20 months), refractory anemia (onset 2 years), and decreased vision acuity and photophobia (onset 2.5 years). The psychomotor abilities developed according to age. Phenotypic evaluation did not reveal any dysmorphic features. The clinical diagnosis of TRMAS was suspected and daily supplementation with thiamine 100?mg was started. The condition of the patient markedly improved several days after the initiation of treatment. The results of SLC19A2 gene molecular testing confirmed the clinical diagnosis - novel homozygous c.[205G>T], p.[(Val69Phe)] mutation changing conserved amino acid residue or even interfering the mRNA splicing. Clinical heterogeneity, diverse dynamics, and wide spectrum of symptoms are aggravating factors in the diagnosis. The possibility of treatment demands early recognition of disorder to facilitate the improvement of the patient's condition. © 2015 Wiley Periodicals, Inc. PMID:25707023

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

    NSDL National Science Digital Library

    Campbell, DeAnn

    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.

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

    ClinicalTrials.gov

    2015-05-05

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

  12. Anemia in Inflammatory Bowel Disease Outpatients: Prevalence, Risk Factors, and Etiology

    PubMed Central

    Antunes, Carla Valéria de Alvarenga; Hallack Neto, Abrahăo Elias; Nascimento, Cristiano Rodrigo de Alvarenga; Chebli, Liliana Andrade; Moutinho, Ivana Lúcia Damásio; Pinheiro, Bruno do Valle; Reboredo, Maycon Moura; Malaguti, Carla; Castro, Antonio Carlos Santana; Chebli, Júlio Maria Fonseca

    2015-01-01

    Anemia is common in inflammatory bowel disease (IBD). However, epidemiological studies of nonwestern IBD populations are limited and may be confounded by demographic, socioeconomic, and disease-related influences. This study evaluated the prevalence, risk factors, and etiology of anemia in Brazilian outpatients with IBD. Methods. In this cross-sectional study, 100 Crohn's disease (CD) patients and 100 ulcerative colitis (UC) subjects were assessed. Anemia workup included complete blood count, ferritin, transferrin saturation, serum levels of folic acid and vitamin B12, and C-reactive protein (CRP) concentration. Results. The overall prevalence of anemia in IBD was 21%. There was no significant difference in the prevalence of anemia between CD subjects (24%) and UC (18%). Moderate disease activity (OR: 3.48, 95% CI, 1.95–9.64, P = 0.002) and elevated CRP levels (OR: 1.8, 95% CI, 1.04–3.11, P = 0.02) were independently associated with anemia. The most common etiologies of anemia found in both groups were iron deficiency anemia (IDA; 10% on CD and 6% on UC) followed by the anemia of chronic disease (ACD; 6% for both groups). Conclusions. In Brazilian IBD outpatients, anemia is highly concurrent condition. Disease moderate activity as well as increased CRP was strongly associated with comorbid anemia. IDA and/or ACD were the most common etiologies. PMID:25705682

  13. Introduction Mammals suffering from radiation-induced anemia or

    E-print Network

    Zandstra, Peter W.

    that distinguish the stem cell niche of the BM versus skeletal muscle microenvironments. Key words: Hematopoietic to endogenous muscle- derived satellite-stem-cells, this repair process was affected by a small numberIntroduction Mammals suffering from radiation-induced anemia or neutropenia can be rescued

  14. Iron deficiency anemia from diagnosis to treatment in children

    PubMed Central

    Özdemir, Nihal

    2015-01-01

    Iron deficiency is the most common nutritional deficiency worldwide and an important public health problem especially in developing countries. Since the most important indicator of iron deficieny is anemia, the terms “iron deficiency” and “iron deficiency anemia” are often used interchangeably. However, iron deficiency may develop in the absence of anemia and the tissues may be affected from this condition. The most common causes of iron deficiency in children include insufficient intake together with rapid growth, low birth weight and gastrointestinal losses related to excessive intake of cow’s milk. If insufficient intake can be excluded and there is insufficient response to oral iron treatment in patients with iron deficiency especially in older children, blood loss should be considered as the underlying cause. The main principles in management of iron deficiency anemia include investigation and elimination of the cause leading to iron deficiency, replacement of deficiency, improvement of nutrition and education of the patient and family. In this article, the practical approaches in the diagnosis and treatment of iron deficiency and the experience of our center have been reviewed.

  15. Studies on the Specificity of Autoantibodies in Acquired Hemolytic Anemia

    Microsoft Academic Search

    BERTHA A. BounoNcLE

    IN THE PAST, the autoantibodies found iii autoimmune hemolytic anemia were considered capable imot only of sensitizing the imidividual's own erythro- cytes, but also of reacting nonspecifically with all human red cells. Autoanti- 1)odies were presumed to 1)e directed against some common antigen possessed by all human erythrocytes, umirelated to the known blood group antigens. However, recent evidence indicates that

  16. Precursors of Executive Function in Infants With Sickle Cell Anemia

    PubMed Central

    Hogan, Alexandra M.; Telfer, Paul T.; Kirkham, Fenella J.; de Haan, Michelle

    2013-01-01

    Executive dysfunction occurs in sickle cell anemia, but there are few early data. Infants with sickle cell anemia (n = 14) and controls (n = 14) performed the “A-not-B” and Object Retrieval search tasks, measuring precursors of executive function at 9 and 12 months. Significant group differences were not found. However, for the A-not-B task, 7 of 11 sickle cell anemia infants scored in the lower 2 performance categories at 9 months, but only 1 at 12 months (P = .024); controls obtained scores at 12 months that were statistically comparable to the scores they had already obtained at 9 months. On the Object Retrieval task, 9- and 12-month controls showed comparable scores, whereas infants with sickle cell anemia continued to improve (P = .027); at 9 months, those with lower hemoglobin oxygen saturation passed fewer trials (R s = 0.670, P = .024) and took longer to obtain the toy (R s = –0.664, P = .013). Subtle delays in acquiring developmental skills may underlie abnormal executive function in childhood. PMID:22859700

  17. Arsenic Intoxication as a Cause of Megaloblastic Anemia

    Microsoft Academic Search

    D. Douglas Westhoff; Richard J. Samaha; Asa Barnes

    1975-01-01

    We have described a case of chronic arse- maturation in the marrow. The patient's nic intoxication associated with pancyto- serum folate and vitamin B12were normal, penia and megaloblastic erythropoiesis. and the anemia regressed without ther- The patient had the typical laboratory apy. Our case suggests that the combina- manifestations of ineffective erythropoie- tion of megaloblastosis with normoblastic sis due to

  18. Early glomerular dysfunction in patients with sickle cell anemia

    Microsoft Academic Search

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

    1998-01-01

    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 (

  19. Abnormal Pulmonary Function in Adults with Sickle Cell Anemia

    Microsoft Academic Search

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

    2006-01-01

    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

  20. Hydroxyurea and sickle cell anemia: effect on quality of life

    Microsoft Academic Search

    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

    2006-01-01

    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

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

    PubMed Central

    Muńoz, Manuel; Gómez-Ramírez, Susana; Martín-Montańez, Elisa; Auerbach, Michael

    2014-01-01

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

  2. Fanconi Anemia: Causes and Consequences of Genetic Instability

    Microsoft Academic Search

    R. Kalb; K. Neveling; I. Nanda; D. Schindler; H. Hoehn

    2006-01-01

    Fanconi anemia (FA) is a rare recessive disease that reflects the cellular and phenotypic consequences of genetic instability: growth retardation, congenital malformations, bone marrow failure, high risk of neoplasia, and premature aging. At the cellular level, manifestations of genetic instability include chromosomal breakage, cell cycle disturbance, and increased somatic mutation rates. FA cells are exquisitely sensitive towards oxygen and alkylating

  3. Latest strategy in renal anemia management in peritoneal dialysis patients.

    PubMed

    Lo, Wai Kei

    2008-06-01

    The target of renal anemia correction with erythropoietin stimulating agents (ESAs) has been traditionally set at a hemoglobin (Hb) level of 11 - 12 g/dL. However, a trend has arisen of progressively increasing the Hb level to beyond 12 g/dL. Recent randomized control trials (RCTs) on correction of renal anemia in chronic kidney disease patients found that normalization of anemia to above 13 g/dL was associated with negative outcome parameters, echoing a previous RCT that showed increased death and myocardial infarction risk after normalization of hemoglobin level in hemodialysis patients. The latest consensus is to limit Hb to a level not exceeding 13 g/dL during renal anemia correction with ESAs. Currently, there are three ESAs available commercially. The choice of ESA should consider safety of subcutaneous administration, cost-effectiveness, and dosing frequency, all of which may affect compliance with ESA administration. Early identification of, and an early search for the causes of hyporesponsiveness to, ESAs is needed to avoid unnecessary escalation in the dose of ESAs. These approaches will help to improve the cost-effectiveness of ESA therapy and permit early detection of hidden problems. The current definitions of hyporesponsiveness are far too stringent and should be reviewed. PMID:18552270

  4. Iron deficiency anemia from diagnosis to treatment in children.

    PubMed

    Özdemir, Nihal

    2015-03-01

    Iron deficiency is the most common nutritional deficiency worldwide and an important public health problem especially in developing countries. Since the most important indicator of iron deficieny is anemia, the terms "iron deficiency" and "iron deficiency anemia" are often used interchangeably. However, iron deficiency may develop in the absence of anemia and the tissues may be affected from this condition. The most common causes of iron deficiency in children include insufficient intake together with rapid growth, low birth weight and gastrointestinal losses related to excessive intake of cow's milk. If insufficient intake can be excluded and there is insufficient response to oral iron treatment in patients with iron deficiency especially in older children, blood loss should be considered as the underlying cause. The main principles in management of iron deficiency anemia include investigation and elimination of the cause leading to iron deficiency, replacement of deficiency, improvement of nutrition and education of the patient and family. In this article, the practical approaches in the diagnosis and treatment of iron deficiency and the experience of our center have been reviewed. PMID:26078692

  5. The prognostic importance of anemia in patients with heart failure

    Microsoft Academic Search

    Mikhail Kosiborod; Grace L Smith; Martha J Radford; JoAnne M Foody; Harlan M Krumholz

    2003-01-01

    PurposePhysiologic studies have suggested that anemia could adversely affect the cardiovascular condition of patients with heart failure. Yet, the prognostic importance of this treatable condition is not well established by epidemiologic studies. We sought to determine the prognostic value of hematocrit level in a cohort of elderly patients hospitalized with heart failure.

  6. Behavior of Infants with Iron-Deficiency Anemia.

    ERIC Educational Resources Information Center

    Lozoff, Betsy; And Others

    1998-01-01

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

  7. Positional Cloning of a Novel Fanconi Anemia Gene, FANCD2

    Microsoft Academic Search

    Cynthia Timmers; Toshiyasu Taniguchi; James Hejna; Carol Reifsteck; Lora Lucas; Donald Bruun; Matthew Thayer; Barbara Cox; Susan Olson; Alan D. D'Andrea; Robb Moses; Markus Grompe

    2001-01-01

    Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel

  8. Effect of 131I on the anemia of hyperthyroidism

    SciTech Connect

    Perlman, J.A.; Sternthal, P.M.

    1983-01-01

    Data from the National Thyrotoxicosis Therapy Follow-Up Study (NTTFS) are presented here to document the existence of anemia in hyperthyroidism, a mild and reversible anemia that is simultaneously ameliorated with reversal of the hyperthyroid state. Among 20,600 women entered into the NTTF study with no previous history of hematological disorders, the prevalence of anemia was found to range from 10-15%, appearing to be higher in those selected for treatment with 131I when compared to those selected for surgery. An attempt is made to verify the recent hypothesis that thyroid hormone levels in the supraphysiologic range may suppress erythrogenesis. Two statistically significant regression models are consistent with a hypothesis of thyrotoxic bone marrow suppression. However, both associations are weak enough to suggest that some other physiologic improvement underlies the amelioration of anemia when hyperthyroidism is reversed. The degree of improvement in hematological status is similar for women in both treatment groups. Among 4464 women for whom serial hematological tests are obtained, over 3/4 of anemic patients are no longer anemic after an average 6.2 yr of follow-up. Clinicians are reassured that radioactive iodine exposure causes no further insult to the bone marrow, no matter what the cumulative dosage. The highly fractionated low dose bone marrow exposures to radiation account for the minimal hematological risks of 131I treatment.

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

    SciTech Connect

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

    1983-10-01

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

  10. The Deubiquitinating Enzyme USP1 Regulates the Fanconi Anemia Pathway

    Microsoft Academic Search

    Sebastian M. B. Nijman; Tony T. Huang; Annette M. G. Dirac; Thijn R. Brummelkamp; Ron M. Kerkhoven; Alan D. D'Andrea; René Bernards

    2005-01-01

    Protein ubiquitination and deubiquitination are dynamic processes implicated in the regulation of numerous cellular pathways. Monoubiquitination of the Fanconi anemia (FA) protein FANCD2 appears to be critical in the repair of DNA damage because many of the proteins that are mutated in FA are required for FANCD2 ubiquitination. By screening a gene family RNAi library, we identify the deubiquitinating enzyme

  11. Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair

    Microsoft Academic Search

    Koji Nakanishi; Yun-Gui Yang; Andrew J. Pierce; Toshiyasu Taniguchi; Martin Digweed; Alan D. D'Andrea; Zhao-Qi Wang; Maria Jasin

    2005-01-01

    Fanconi anemia (FA) is a recessive disorder characterized by congenital abnormalities, progressive bone-marrow failure, and cancer susceptibility. Cells from FA patients are hypersensitive to agents that produce DNA crosslinks and, after treatment with these agents, have pronounced chromosome breakage and other cytogenetic abnormalities. Eight FANC genes have been cloned, and the encoded proteins interact in a common cellular pathway. DNA-damaging

  12. Sequence Variation in the Fanconi Anemia Gene FAA

    Microsoft Academic Search

    Orna Levran; Tamar Erlich; Neiva Magdalena; John J. Gregory; Sat Dev Batish; Peter C. Verlander; Arleen D. Auerbach

    1997-01-01

    Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive syndrome associated with chromosomal instability, hypersensitivity to DNA crosslinking agents, and predisposition to malignancy. The gene for FA complementation group A (FAA) recently has been cloned. The cDNA is predicted to encode a polypeptide of 1,455 amino acids, with no homologies to any known protein that might suggest a function for

  13. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome

    Microsoft Academic Search

    Amom Ruhikanta Meetei; Salvatore Sechi; Michael Wallisch; Dafeng Yang; Mary K. Young; Hans Joenje; Maureen E. Hoatlin; Weidong Wang

    2003-01-01

    Bloom syndrome (BS) is a genetic disorder associated with dwarfism, immunodeficiency, reduced fertility, and an elevated risk of cancer. To investigate the mechanism of this disease, we isolated from human HeLa extracts three complexes containing the helicase defective in BS, BLM. Interestingly, one of the complexes, termed BRAFT, also contains five of the Fanconi anemia (FA) complementation group proteins (FA

  14. Identification of two complementation groups in Fanconi anemia

    Microsoft Academic Search

    G. Duckworth-Rysiecki; K. Cornish; C. A. Clarke; M. Buchwald

    1985-01-01

    Considerable variation can be observed in the clinical presentation of Fanconi anemia (FA) patients and in the degree of sensitivity of their cells to DNA damaging agents. We have examined the hypothesis that genetic heterogeneity underlies this variation by testing for complementation in somatic cell hybrids constructed from FA cells. Hybrids were formed by fusing lymphoblastoid cell lines derived from

  15. Risk and Prevalence of Anemia among Women Attending Public and Private Universities.

    PubMed

    Marques, Marcelo Rodrigues; Silva, Lília Maria Monteiro De Oliveira E; Pessoa, Marcia Luiza Dos Santos Beserra; Araújo, Marcos Antônio Da Mota; Moreira-Araújo, Regilda Saraiva Dos Reis

    2015-01-01

    Anemia is a global public health problem. Women are known to be more susceptible to anemia; however, no controlled study has yet assessed differences in the prevalence of anemia exclusively among women with higher education. The aim of the study was to establish the prevalence of anemia among women attending universities. The hemoglobin concentration of 140 women aged 18 to 45 years old from a private and a public university was measured. Anthropometric and socioeconomic data were also collected. The risk of developing anemia was almost threefold higher among the students attending the public university (OR: 2.71; p = .0248). The prevalence of anemia was much higher than in the overall female population (79%). The higher education was not a protective factor for anemia in women when analysed separately from the total population of women. PMID:25976426

  16. Minor population of CD55CD59 blood cells predicts response to immunosuppressive therapy and prognosis in patients with aplastic anemia

    Microsoft Academic Search

    Chiharu Sugimori; Tatsuya Chuhjo; Xingmin Feng; Hirohito Yamazaki; Akiyoshi Takami; Masanao Teramura; Hideaki Mizoguchi; Mitsuhiro Omine; Shinji Nakao

    2006-01-01

    We investigated the clinical significance of a minor population of paroxysmal noc- turnal hemoglobinuria (PNH)-type blood cells in patients with acquired aplastic anemia (AA). We quantified CD55CD59 granulocytes and red blood cells (RBCs) in peripheral blood from 122 patients with recently diagnosed AA and correlated numbers of PNH-type cells and responses to immunosuppressive therapy (IST). Flow cytometry detected 0.005% to

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

    PubMed Central

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

    2014-01-01

    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

  18. A critical role for mTORC1 in erythropoiesis and anemia

    PubMed Central

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

    2014-01-01

    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: http://dx.doi.org/10.7554/eLife.01913.001 PMID:25201874

  19. Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

    PubMed Central

    Castella, Maria; Pujol, Roser; Callén, Elsa; Trujillo, Juan P.; Casado, José A.; Gille, Hans; Lach, Francis P.; Auerbach, Arleen D.; Schindler, Detlev; Benítez, Javier; Porto, Beatriz; Ferro, Teresa; Muńoz, Arturo; Sevilla, Julián; Madero, Luis; Cela, Elena; Beléndez, Cristina; de Heredia, Cristina Díaz; Olivé, Teresa; de Toledo, José Sánchez; Badell, Isabel; Torrent, Montserrat; Estella, Jesús; Dasí, Ángeles; Rodríguez-Villa, Antonia; Gómez, Pedro; Barbot, José; Tapia, María; Molinés, Antonio; Figuera, Ángela; Bueren, Juan A.

    2011-01-01

    Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and clinical level. The world most frequent FANCA mutation is not the result of a mutational “hot-spot” but results from worldwide dissemination of an ancestral Indo-European mutation. We provide molecular evidence that total absence of FANCA in humans does not reduce embryonic viability, as the observed frequency of mutation carriers in the Gypsy population equals the expected by Hardy-Weinberg equilibrium. We also prove that long distance Alu-Alu recombination can cause Fanconi anemia by originating large interstitial deletions involving FANCA and 2 adjacent genes. Finally, we show that all missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. This may explain the observed lack of correlation between type of FANCA mutation and cellular phenotype or clinical severity in terms of age of onset of hematologic disease or number of malformations. PMID:21273304

  20. Potential over request in anemia laboratory tests in primary care in Spain.

    PubMed

    Salinas, María; López-Garrigós, Maite; Flores, Emilio; Uris, Joaquín; Leiva-Salinas, Carlos

    2015-07-01

    Objectives The aim was to study the inter-practice variability in anemia laboratory tests requested by general practitioners in Spain, to evaluate for a potential requesting inappropriateness. Methods Laboratories from diverse Spanish regions filled out the number of cell blood count, ferritin, folate, iron, transferrin, and vitamin B12 requested by general practitioners during 2012. The number of test requests per 1000 inhabitants and ratios of related tests requests were calculated. The results obtained in hospitals from different areas (urban, rural, or urban-rural), type of management (public or private), and geographic regions were compared. Results There was a high variability in the number of test requests and ratios of related tests. Cell blood count was over requested in rural areas and in hospitals with private management. Andalucía was the community with the lowest number of iron requests and the lowest folate/vitamin B12 indicator value. Conclusions Iron and transferrin seemed over requested in some areas; as were folate and ferritin when compared to vitamin B12 and cell blood count, respectively. The differences observed between areas indicate that other factors besides clinical reasons could be behind that variability and emphasize the need to accomplish interventions to improve the appropriate use of anemia laboratory tests. PMID:25366813

  1. Linkage analysis of the Fanconi anemia gene FACC with chromosome 9q markers

    SciTech Connect

    Auerbach, A.D.; Shin, H.T.; Kaporis, A.G. [Rockefeller Univ., New York, NY (United States)] [and others

    1994-09-01

    Fanconi anemia (FA) is a genetically heterogeneous syndrome, with at least four different complementation groups as determined by cell fusion studies. The gene for complementation group C, FACC, has been cloned and mapped to chromosome 9q22.3 by in situ hybridization, while linkage analysis has supported the placement of another gene on chromosome 20q. We have analyzed five microsatellite markers and one RFLP on chromosome 9q in a panel of FA families from the International Fanconi Anemia Registry (IFAR) in order to place FACC on the genetic map. Polymorphisms were typed in 308 individuals from 51 families. FACC is tightly linked to both D9S151 [{Theta}{sub max}=0.025, Z{sub max}=7.75] and to D9S196 [{Theta}{sub max}=0.041, Z{sub max}=7.89]; multipoint analysis is in progress. We are currently screening a YAC clone that contains the entire FACC gene for additional microsatellite markers suitable for haplotype analysis of FA families.

  2. Local concepts of anemia-related illnesses and public health implications in the Taabo health demographic surveillance system, Côte d’Ivoire

    PubMed Central

    2013-01-01

    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

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

    PubMed

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

    2012-11-01

    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

  4. Polyclonal hematopoiesis maintained in patients with bone marrow failure harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells

    Microsoft Academic Search

    Ken Ishiyama; Tatsuya Chuhjo; Hongbo Wang; Akihiro Yachie; Mitsuhiro Omine; Shinji Nakao

    2003-01-01

    Although a minor population of paroxys- mal nocturnal hemoglobinuria (PNH)- type blood cells is often detected in pa- tients with aplastic anemia (AA) and refractory anemia (RA), the significance of such cells in the pathophysiology of bone marrow (BM) failure remains ob- scure. We therefore examined clonality in peripheral blood granulocytes from 118 female patients with AA or myelodysplas- tic

  5. Prevalence of Anemia and Its Risk Factors Among Children 6–36 Months Old in Burma

    PubMed Central

    Zhao, Ai; Zhang, Yumei; Peng, Ying; Li, Jiayin; Yang, Titi; Liu, Zhaoyan; Lv, Yanli; Wang, Peiyu

    2012-01-01

    Anemia is a common nutritional problem, and it has a remarkably high prevalence rate in Southeast Asia. In this study, children from 6 to 36 months were investigated to determine (1) the prevalence of anemia and (2) risk factors associated with anemia. Convenience sampling was used to select three villages in three different regions in Burma. Hemoglobin and anthropometric indicators were measured for 872 children. Logistic regression analyses were used to determine factors associated with anemia. The overall prevalence of anemia was 72.6%, with 40.0% having severe anemia. Predictors of anemia are a young age (P < 0.001), mother with anemia (P < 0.001), height-for-age Z score < ?2 (P = 0.017), low family income (P < 0.001), mothers without primary education (P = 0.007), drinking unboiled water (P = 0.029), and fever in the last 3 months (P = 0.001). There is a high prevalence of anemia in children, and their nutritional status is quite poor. To control anemia, humanitarians and governments should launch comprehensive interventions. PMID:22855763

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

    PubMed Central

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

    2013-01-01

    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

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

    SciTech Connect

    Datta, T.; Doermer, P.

    1987-12-01

    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.

  8. Abnormal erythropoiesis and the pathophysiology of chronic anemia.

    PubMed

    Koury, Mark J

    2014-03-01

    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

  9. [Pathology and treatment of anemia in the elderly].

    PubMed

    Takasaki, M; Tsurumi, N; Harada, M; Rokugo, N; Arai, H; Katsunuma, H; Ebihara, Y; Wakasugi, K

    1999-05-01

    An important background characteristic of anemia in the elderly is decrease in hematopoiesis due to aging. Factors influencing hematopoiesis in the elderly include changes in the distribution of hematopoietic tissue, changes in hematopoietic stem cell density and changes in the hematopoietic inductive microenvironment. In the present study, in order to assess changes in the bone marrow with aging, the fat tissue area, uncleated cell-count and cellularity in the bone marrow, in addition to changes in the diameter of the vascular lumen which result primarily from sclerotic changes in the dorsomedial artery of the bone marrow were determined in different age groups. The results revealed that all of the aforementioned factors changed significantly with aging. We also describe on the results of assays of inflammatory cytokines (IL-1, IL-6, TNF-alpha), lactoferrin and transferrin receptors in cases of anemia of chronic disorders (ACD) which own secondary to chronic inflammatory diseases and is known to frequently afflict the elderly. PMID:10466349

  10. Fanconi anemia and the cell cycle: new perspectives on aneuploidy

    PubMed Central

    2014-01-01

    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

  11. Characterization of a Cytolytic Strain of Equine Infectious Anemia Virus

    Microsoft Academic Search

    Wendy Maury; Patrick J. Wright; Sarahann Bradley

    2003-01-01

    A novel strain of equine infectious anemia virus (EIAV) called vMA-1c that rapidly and specifically killed infected equine fibroblasts (ED cells) but not other infectible cell lines was established. This strain was generated from an avirulent, noncytopathic strain of EIAV, MA-1. Studies with this new cytolytic strain of virus have permitted us to define viral parameters associated with EIAV-induced cell

  12. Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.

    PubMed

    Yoshizato, Tetsuichi; Dumitriu, Bogdan; Hosokawa, Kohei; Makishima, Hideki; Yoshida, Kenichi; Townsley, Danielle; Sato-Otsubo, Aiko; Sato, Yusuke; Liu, Delong; Suzuki, Hiromichi; Wu, Colin O; Shiraishi, Yuichi; Clemente, Michael J; Kataoka, Keisuke; Shiozawa, Yusuke; Okuno, Yusuke; Chiba, Kenichi; Tanaka, Hiroko; Nagata, Yasunobu; Katagiri, Takamasa; Kon, Ayana; Sanada, Masashi; Scheinberg, Phillip; Miyano, Satoru; Maciejewski, Jaroslaw P; Nakao, Shinji; Young, Neal S; Ogawa, Seishi

    2015-07-01

    Background In patients with acquired aplastic anemia, destruction of hematopoietic cells by the immune system leads to pancytopenia. Patients have a response to immunosuppressive therapy, but myelodysplastic syndromes and acute myeloid leukemia develop in about 15% of the patients, usually many months to years after the diagnosis of aplastic anemia. Methods We performed next-generation sequencing and array-based karyotyping using 668 blood samples obtained from 439 patients with aplastic anemia. We analyzed serial samples obtained from 82 patients. Results Somatic mutations in myeloid cancer candidate genes were present in one third of the patients, in a limited number of genes and at low initial variant allele frequency. Clonal hematopoiesis was detected in 47% of the patients, most frequently as acquired mutations. The prevalence of the mutations increased with age, and mutations had an age-related signature. DNMT3A-mutated and ASXL1-mutated clones tended to increase in size over time; the size of BCOR- and BCORL1-mutated and PIGA-mutated clones decreased or remained stable. Mutations in PIGA and BCOR and BCORL1 correlated with a better response to immunosuppressive therapy and longer and a higher rate of overall and progression-free survival; mutations in a subgroup of genes that included DNMT3A and ASXL1 were associated with worse outcomes. However, clonal dynamics were highly variable and might not necessarily have predicted the response to therapy and long-term survival among individual patients. Conclusions Clonal hematopoiesis was prevalent in aplastic anemia. Some mutations were related to clinical outcomes. A highly biased set of mutations is evidence of Darwinian selection in the failed bone marrow environment. The pattern of somatic clones in individual patients over time was variable and frequently unpredictable. (Funded by Grant-in-Aid for Scientific Research and others.). PMID:26132940

  13. Inborn anemias in mice: (Annual report, 1983-1984)

    SciTech Connect

    Bernstein, S.E.

    1984-09-01

    The hypotranserrinemic-hemochromatosis mutation in mice discovered in our laboratory is an almost exact duplicate of human atransferrinemia. Just as in man, the condition is inherited as a recessive lethal. The disease appears to stem from a congenital deficiency in transferrin. The new mutation arose spontaneously in BALB/c mice and results in death before 12 days of age. It is characterized by stunted growth, low numbers of erythrocytes, hypochromia, and in the absence of jaundice. Treatments with Imferon or other iron preparations were uniformly unsuccessful, but the use of normal mouse serum proved successful as a therapeutic measure. We find that we are able to keep these afflicted mice alive for more than a year with small amounts of normal serum, and transferrin bands are missing on cellulose acetate electrophoresis of serum proteins from affected individuals receiving no treatment. Genetic tests indicated that the new mutation was not an allele of any of the other known iron deficiency anemias in the mouse: sex linked anemia (sla), microcytic anemia (mk), or flexed anemia (f) or any of the members of the hemolytic disease group (sph, sph/sup ha/, nb, or ja). Biochemical and genetic analyses carried out during the past year indicate that the new mutation, tentatively designated hpx is not likely to be a mutation at the transferrin (Trf) locus on Chromosome 9. We observed no unusual serum proteins on cellulose acetate electrophoresis, such as might be expected if the Trf gene had mutated. Moreover, radial immunodiffusion examination and Ouchterlony analysis did not show the presence of smaller molecules (or fragments) with transferrin antigenic specificities. Instead they showed a total loss in serum transferrin. 14 refs., 5 tabs.

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

    NSDL National Science Digital Library

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

    1999-11-19

    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.

  15. Molecular pathogenesis and clinical management of Fanconi anemia

    PubMed Central

    Kee, Younghoon; D’Andrea, Alan D.

    2012-01-01

    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

  16. Fanconi Anemia: Overview of the Disease and the Role of Hematopoietic Transplantation.

    PubMed

    Schifferli, Alexandra; Kühne, Thomas

    2015-07-01

    Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by congenital abnormalities and chromosomal breakages with the occurrence of hematological and solid malignancies. FA is the most common type of inherited bone marrow failure and poses tremendous challenges. FA patients are uniquely hypersensitive to hematopoietic stem cell transplantation (HSCT) conditioning agents due to the underling chromosomal instability. HSCT has shown important progress in the last years, especially after the introduction of fludarabine and the reduction of cyclophosphamide in the preparative regimen. For patients with HLA-identical-related donors HSCT should be performed as first-line therapy, for patients with alternative donors HSCT remains a therapy with increased morbidity and mortality. PMID:26086276

  17. A rare cause of anemia due to intestinal tuberculosis in a renal transplant recipient.

    PubMed

    Kandutsch, S; Feix, A; Haas, M; Häfner, M; Sunder-Plassmann, G; Soleiman, A

    2004-08-01

    A renal transplant recipient with stable allograft function presented with massive hemorrhagic diarrhea and severe anemia. No microbial infection could be found in stool cultures. Early colonoscopy showed severe colitis with ulceration. Histological samples confirmed granulomatous inflammation with acid-resistant Ziehl-Neelson-positive microorganisms of mycobacterial type. Polymerase chain reaction (PCR) analysis of native mucosal biopsies specified the infectious organism as Mycobacterium tuberculosis complex. The patient responded well to antimycobacterial therapy and was still asymptomatic after 6 months with a stable graft function. Our case shows that tuberculosis can be a severe clinical problem in transplant recipients. Most of the patients with intestinal tuberculosis, reported to literature, were diagnosed post mortem or after explorative laparotomy and bowel resection. Thus, intestinal tuberculosis should be considered when a transplant recipient shows abdominal symptoms with no clear evidence of another infection. Proper diagnosis and treatment resulted in a beneficial outcome in our patient. PMID:15356975

  18. Urinary schistosomiasis and malaria associated anemia in Ethiopia

    PubMed Central

    Deribew, Ketema; Tekeste, Zinaye; Petros, Beyene

    2013-01-01

    Objective To assess the prevalence of anemia in children with urinary schistosomiasis, malaria and concurrent infections by the two diseases. Methods Urine and blood samples were collected from 387 children (216 males and 171 females) to examine urinary schistosomiasis and malaria and to determine hemoglobin concentration at Hassoba and Hassoba Buri village in Amibara woreda, Afar region, Ethiopia. Results The overall prevalence of urinary schistosomiasis and Plasmodium falciparum malaria was 24.54% and 6.20% respectively. Only 2.84% of children carried concurrent infections of both parasites. There was high percentage of anemic patients (81.81%) in the coinfected cases than in either malaria (33.3%) or schistosomiasis (38.94%) cases. There was significantly low mean hemoglobin concentration in concurrently infected children than non-infected and single infected (P<0.05). The mean hemoglobin concentration between Plasmodium falciparum and S. haematobium infected children showed no significant difference (P>0.05). The level of hemoglobin was negatively correlated with the number of S. haematobium eggs/10 mL urine (r=-0.6) and malaria parasitemia (r=-0.53). Conclusions The study showed that anemia is higher in concurrently infected children than non-infected and single infected. Furthermore, level of hemoglobin was negatively correlated with the number of S. haematobium eggs and malaria parsitemia. Therefore, examination of hemoglobin status in patients co-infected with malaria and schistosomiasis is important to reduce the risk of anemia and to improve health of the community. PMID:23620856

  19. Individualized model discovery: the case of anemia patients.

    PubMed

    Akabua, Elom; Inanc, Tamer; Gaweda, Adam; Brier, Michael E; Kim, Seongho; Zurada, Jacek M

    2015-01-01

    The universal sequel to chronic kidney condition (CKD) is anemia. Patients of anemia have kidneys that are incapable of performing certain basic functions such as sensing of oxygen levels to secrete erythropoietin when red blood cell counts are low. Under such conditions, external administration of human recombinant erythropoietin (EPO) is administered as alternative to improve conditions of CKD patients by increasing their hemoglobin (Hb) levels to a given therapeutic range. Presently, EPO dosing strategies extensively depend on packet inserts and on "average" responses to the medication from previous patients. Clearly dosage strategies based on these approaches are, at best, nonoptimal to EPO medication and potentially dangerous to patients that do not adhere to the notion of expected "average" response. In this work, a technique called semi-blind robust identification is provided to uniquely identify models of the individual patients of anemia based on their actual Hb responses and EPO administration. Using the a priori information and the measured input-output data of the individual patients, the procedure identifies a unique model consisting of a nominal model and the associated model uncertainty for the patients. By incorporating the effects of unknown system initial conditions, considerably small measurement samples can be used in the modeling process. PMID:25459523

  20. Phytomedicines and nutraceuticals: alternative therapeutics for sickle cell anemia.

    PubMed

    Imaga, Ngozi Awa

    2013-01-01

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

  1. Neocytolysis Contributes to the Anemia of Renal Disease

    NASA Technical Reports Server (NTRS)

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

    1997-01-01

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

  2. Neocytolysis contributes to the anemia of renal disease

    NASA Technical Reports Server (NTRS)

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

    1999-01-01

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

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

    PubMed

    Schrezenmeier, Hubert; Körper, Sixten; Höchsmann, Britta

    2015-02-01

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

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

    Microsoft Academic Search

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

    2002-01-01

    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

  5. The Evaluation of Premenopausal Women with Anemia: What Is the Yield of Gastrointestinal Endoscopy?

    Microsoft Academic Search

    Kristen Robson; Amy Barto; Rebecca F. Liberman

    2009-01-01

    Anemia is not uncommon in premenopausal women. The purpose of this study was to determine the yield of endoscopy in premenopausal\\u000a women with anemia. We identified and reviewed the medical records of 168 premenopausal women who underwent upper endoscopy\\u000a and\\/or colonoscopy for the indication of iron deficiency anemia (IDA) during the years 1996 through 2005. Of the 168 patients,\\u000a 100

  6. Iron status in patients receiving erythropoietin for dialysis-associated anemia

    Microsoft Academic Search

    David B Van Wyck; John C Stivelman; Joaquin Ruiz; Linda F Kirlin; Murray A Katz; David A Ogden

    1989-01-01

    Iron status in patients receiving erythropoietin for dialysis-associated anemia. Adequate body iron stores are crucial to assuring rapid and complete response to recombinant human erythropoietin (rHuEPO). In the present study, markers of iron storage were examined in 27 patients with normochromic, normocytic anemia undergoing acute rHuEPO (150 to 300 U\\/kg t.i.w.) treatment for anemia. We calculated projected iron needed for

  7. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

    Microsoft Academic Search

    Marieke Levitus; Quinten Waisfisz; Barbara C Godthelp; Yne de Vries; Shobbir Hussain; Wouter W Wiegant; Elhaam Elghalbzouri-Maghrani; Jűrgen Steltenpool; Martin A Rooimans; Gerard Pals; Fré Arwert; Christopher G Mathew; Ma?gorzata Z Zdzienicka; Kevin Hiom; Johan P De Winter; Hans Joenje

    2005-01-01

    The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway

  8. A Child With Diamond-Blackfan Anemia, Methylenetetrahydrofolate Reductase Mutation, and Perinatal Stroke

    Microsoft Academic Search

    Matthew W. Butrum; Linda S. Williams; Meredith R. Golomb

    2003-01-01

    Diamond-Blackfan anemia is a congenital hypoproliferative anemia known to be associated with diverse physical anomalies affecting the thumb, craniofacial bones, urogenital system, and heart; prematurity; and fetal demise. We report the case of a 16-month-old boy with Diamond-Blackfan anemia noted to have decreased use of his right side since birth. Magnetic resonance imaging demonstrated a large area of encephalomalacia in

  9. An epidemiological study on anemia among institutionalized people with intellectual and\\/or motor disability with special reference to its frequency, severity and predictors

    Microsoft Academic Search

    Hiroko Ohwada; Takeo Nakayama; Nobuo Nara; Yuji Tomono; Keiko Yamanaka

    2006-01-01

    BACKGROUND: To examine the type, frequency, severity, and predictors of anemia and its relationship with co-morbid conditions among institutionalized people with intellectual and\\/or motor disability. METHODS: We conducted a cross-sectional study at a public facility for people with intellectual and\\/or motor disability in Ibaraki prefecture, Japan. Health checkup data obtained in 2001 from 477 people with intellectual disability (male: 286,

  10. 9 CFR 75.4 - Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic...

    Code of Federal Regulations, 2014 CFR

    2014-01-01

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

  11. 9 CFR 75.4 - Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic...

    Code of Federal Regulations, 2011 CFR

    2011-01-01

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

  12. 9 CFR 75.4 - Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic...

    Code of Federal Regulations, 2013 CFR

    2013-01-01

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

  13. 9 CFR 75.4 - Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic...

    Code of Federal Regulations, 2010 CFR

    2010-01-01

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

  14. 9 CFR 75.4 - Interstate movement of equine infectious anemia reactors and approval of laboratories, diagnostic...

    Code of Federal Regulations, 2012 CFR

    2012-01-01

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

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

    E-print Network

    Herynk, James William

    2014-05-31

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

  16. [Serological characteristics and transfusion efficacy evaluation in 61 cases of autoimmune hemolytic anemia].

    PubMed

    Yu, Yang; Sun, Xiao-Lin; Ma, Chun-Ya; Guan, Xiao-Zhen; Zhang, Xiao-Juan; Chen, Lin-Fen; Wang, Ke; Luo, Yuan-Yuan; Wang, Yi; Li, Ming-Wei; Feng, Yan-Nan; Tong, Shan; Yu, Shuai; Yang, Lu; Wu, Yue-Qing; Zhuang, Yuan; Pan, Ji-Chun; Fen, Qian; Zhang, Ting; Wang, De-Qing

    2013-10-01

    This study was aimed to analyze the serological characteristics, efficacy and safety of incompatible RBC transfusion in patients with autoimmune hemolytic anemia (AIHA). The patients with idiopathic or secondary AIHA were analyzed retrospectively, then the serological characteristics and the incidence of adverse transfusion reactions were investigated, and the efficacy and safety of incompatible RBC transfusion were evaluated according to the different autoantibody type and infused different RBC components. The results showed that out of 61 cases of AIHA, 21 cases were idiopathic, and 40 cases were secondary. 8 cases (13.1%) had IgM cold autoantibody, 50 cases (82.0%) had IgG warm autoantibody, and 3 cases (4.9%) had IgM and IgG autoantibodies simultaneously. There were 18 cases (29.5%) combined with alloantibodies. After the exclusion of alloantibodies interference, 113 incompatible RBC transfusions were performed for 36 patients with AIHA, total efficiency rate, total partial efficiency rate and total inefficiency rate were 56.6%, 15.1% and 28.3%, respectively. Incompatible RBC transfusions were divided into non-washed RBC group and washed RBC group. The efficiency rate, partial efficiency rate and inefficiency rate in non-washed RBC group were 57.6%, 13.0% and 29.4%, respectively. The efficiency rate, partial efficiency rate and inefficiency rate in washed RBC group were 53.6%, 21.4% and 25.0%, respectively. There was no significant difference of transfusion efficacy (P > 0.05) in two groups. Incompatible RBC transfusions were also divided into IgM cold autoantibody group and IgG warm autoantibody group. The efficiency rate, partial efficiency rate and inefficiency rate in IgM cold autoantibody group were 46.2%, 30.8% and 29.4%, respectively. The efficiency rate, partial efficiency rate and inefficiency rate in IgG warm autoantibody group were 56.7%, 13.4% and 29.9%, respectively. There was no significant difference of transfusion efficacy (P > 0.05 ) in two groups. Hemolytic transfusion reaction was not observed in all incompatible RBC transfusions. It is concluded that the same ABO type of non-washed RBC transfusion and O type washed RBC transfusion are all relatively safe for the AIHA patients with severe anemia after the exclusion of alloantibodies interference. There is no significant difference of transfusion efficacy in two groups. The same ABO type of non-washed RBC transfusion is more convenient and efficient than washed RBC transfusion, and excessive use of type O RBCs can also be avoided. PMID:24156449

  17. Fanconi anemia deficiency stimulates HPV-associated hyperplastic growth in organotypic epithelial raft culture.

    PubMed

    Hoskins, E E; Morris, T A; Higginbotham, J M; Spardy, N; Cha, E; Kelly, P; Williams, D A; Wikenheiser-Brokamp, K A; Duensing, S; Wells, S I

    2009-02-01

    Fanconi anemia (FA) is a recessive genome instability syndrome characterized by heightened cellular sensitivity to DNA damage, aplastic anemia and cancer susceptibility. Leukemias and squamous cell carcinomas (SCCs) are the most predominant FA-associated cancers, with the latter exhibiting markedly early disease onset and aggressiveness. Although studies of hematopoietic cells derived from FA patients have provided much insight into bone marrow deficiencies and leukemogenesis, molecular transforming events in FA-deficient keratinocytes, which are the cell type of origin for SCC, are poorly understood. We describe here the growth and molecular properties of FANCA-deficient versus FANCA-corrected HPV E6/E7 immortalized keratinocytes in monolayer and organotypic epithelial raft culture. In response to DNA damage, FANCA-deficient patient-derived keratinocyte cultures displayed a G2/M phase arrest, senescence and apoptosis. Organotypic raft cultures exhibited DNA repair-associated defects with more 53BP1 foci and TdT-mediated dNTP nick end labeling-positive cells over their corrected counterparts. Interestingly, together with reduced rates of DNA damage, FA correction resulted in a marked decrease in epithelial thickness and the presence of fewer cell layers. The observed FANCA-mediated suppression of hyperplasia correlated with the detection of fewer cells transiting through the cell cycle in the absence of gross differentiation abnormalities or apoptotic differences. Importantly, the knockdown of either FANCA or FANCD2 in HPV-positive keratinocytes was sufficient for increasing epithelial hyperplasia. Our findings support a new role for FA pathways in the maintenance of differentiation-dependent cell cycle exit, with the implication that FA deficiencies may contribute to the high risk of FA patients for developing HPV-associated SCC. PMID:19015634

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

    PubMed Central

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

    2013-01-01

    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

  19. A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

    Microsoft Academic Search

    Amom Ruhikanta Meetei; Annette L Medhurst; Chen Ling; Yutong Xue; Thiyam Ramsing Singh; Patrick Bier; Jurgen Steltenpool; Stacie Stone; Inderjeet Dokal; Christopher G Mathew; Maureen Hoatlin; Hans Joenje; Johan P de Winter; Weidong Wang

    2005-01-01

    Fanconi anemia is a genetic disease characterized by genomic instability and cancer predisposition. Nine genes involved in Fanconi anemia have been identified; their products participate in a DNA damage-response network involving BRCA1 and BRCA2 (refs. 2,3). We previously purified a Fanconi anemia core complex containing the FANCL ubiquitin ligase and six other Fanconi anemia-associated proteins. Each protein in this complex

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

    Microsoft Academic Search

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

    2003-01-01

    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

  1. Eltrombopag and Improved Hematopoiesis in Refractory Aplastic Anemia

    PubMed Central

    Olnes, Matthew J.; Scheinberg, Phillip; Calvo, Katherine R.; Desmond, Ronan; Tang, Yong; Dumitriu, Bogdan; Parikh, Ankur R.; Soto, Susan; Biancotto, Angelique; Feng, Xingmin; Lozier, Jay; Wu, Colin O.; Young, Neal S.; Dunbar, Cynthia E.

    2012-01-01

    BACKGROUND Severe aplastic anemia, which is characterized by immune-mediated bone marrow hypoplasia and pancytopenia, can be treated effectively with immunosuppressive therapy or allogeneic transplantation. One third of patients have disease that is refractory to immunosuppression, with persistent, severe cytopenia and a profound deficit in hematopoietic stem cells and progenitor cells. Thrombopoietin may increase the number of hematopoietic stem cells and progenitor cells. METHODS We conducted a phase 2 study involving patients with aplastic anemia that was refractory to immunosuppression to determine whether the oral thrombopoietin mimetic eltrombopag (Promacta) can improve blood counts. Twenty-five patients received eltrombopag at a dose of 50 mg, which could be increased, as needed, to a maximum dose of 150 mg daily, for a total of 12 weeks. Primary end points were clinically significant changes in blood counts or transfusion independence. Patients with a response continued to receive eltrombopag. RESULTS Eleven of 25 patients (44%) had a hematologic response in at least one lineage at 12 weeks, with minimal toxic effects. Nine patients no longer needed platelet transfusions (median increase in platelet count, 44,000 per cubic millimeter). Six patients had improved hemoglobin levels (median increase, 4.4 g per deciliter); 3 of them were previously dependent on red-cell transfusions and no longer needed transfusions. Nine patients had increased neutrophil counts (median increase, 1350 per cubic millimeter). Serial bone marrow biopsies showed normalization of trilineage hematopoiesis in patients who had a response, without increased fibrosis. Monitoring of immune function revealed no consistent changes. CONCLUSIONS Treatment with eltrombopag was associated with multilineage clinical responses in some patients with refractory severe aplastic anemia. (Funded by the National Heart, Lung, and Blood Institute; ClinicalTrials.gov number, NCT00922883.) PMID:22762314

  2. Individualized Anemia Management Reduces Hemoglobin Variability in Hemodialysis Patients

    PubMed Central

    Aronoff, George R.; Jacobs, Alfred A.; Rai, Shesh N.; Brier, Michael E.

    2014-01-01

    One-size-fits-all protocol-based approaches to anemia management with erythropoiesis-stimulating agents (ESAs) may result in undesired patterns of hemoglobin variability. In this single-center, double-blind, randomized controlled trial, we tested the hypothesis that individualized dosing of ESA improves hemoglobin variability over a standard population-based approach. We enrolled 62 hemodialysis patients and followed them over a 12-month period. Patients were randomly assigned to receive ESA doses guided by the Smart Anemia Manager algorithm (treatment) or by a standard protocol (control). Dose recommendations, performed on a monthly basis, were validated by an expert physician anemia manager. The primary outcome was the percentage of hemoglobin concentrations between 10 and 12 g/dl over the follow-up period. A total of 258 of 356 (72.5%) hemoglobin concentrations were between 10 and 12 g/dl in the treatment group, compared with 208 of 336 (61.9%) in the control group; 42 (11.8%) hemoglobin concentrations were <10 g/dl in the treatment group compared with 88 (24.7%) in the control group; and 56 (15.7%) hemoglobin concentrations were >12 g/dl in the treatment group compared with 46 (13.4%) in the control group. The median ESA dosage per patient was 2000 IU/wk in both groups. Five participants received 6 transfusions (21 U) in the treatment group, compared with 8 participants and 13 transfusions (31 U) in the control group. These results suggest that individualized ESA dosing decreases total hemoglobin variability compared with a population protocol-based approach. As hemoglobin levels are declining in hemodialysis patients, decreasing hemoglobin variability may help reduce the risk of transfusions in this population. PMID:24029429

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

    PubMed

    Helmick, Kelly E; Milne, Victoria E

    2012-12-01

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

  4. Iron deficiency and iron deficiency anemia in women.

    PubMed

    Coad, Jane; Pedley, Kevin

    2014-01-01

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

  5. Allogeneic hematopoietic stem cell transplantation in children with aplastic anemia.

    PubMed

    Xue, H-M; Xu, H-G; Huang, K; Guo, H-X; Li, Y; Zhou, D-H; Huang, S-L; Fang, J-P; Chen, C

    2015-01-01

    The aim of this study was to prospectively investigate the efficacy and safety of fully matched allogeneic hematopoietic stem cell transplants in children with severe aplastic anemia in China. A total of twenty patients with severe aplastic anemia were enrolled in our study. Thirteen cases underwent transplantation with fully human leukocyte antigen (HLA)-matched, granulocyte-colony stimulating factor (G-CSF)-primed bone marrow and peripheral blood stem cells (PBSCs) from matching sibling donors. One patient received fully HLA-matched bone marrow from an unrelated donor. Six patients received fully HLA-matched G-CSF-primed PBSCs from unrelated donors. The conditioning regimen included fludarabine, cyclophosphamide, and rabbit anti-thymocyte globulin. Graft-versus-host disease prophylaxis was conducted with cyclosporin A and short-course methotrexate. The median follow-up duration was 3.08 years (range, 0.83-8.41years). The median time of neutrophil recovery (>0.5 x 10(9)/L) was 14 days (range, 10-20 days), and the median time of platelet recovery (>20 x 10(9)/L) was 19 days (range, 14-31 days). The survival rate at the cutoff point of follow-up was 95.0% (19/20). Initial engraftment rate was 95% (19/20). Late graft failure (graft failures occurring 1 year or longer after transplantation) was observed in one patient. Only one patient developed Grade I acute graft-versus-host disease. Two cases suffered from Epstein- Barr virus (EBV)-associated post-transplant lymphoproliferative disorder and remitted after treatment with rituximab. One patient was diagnosed with hyperthyroidism 2.5 years after transplantation. Our study indicated that allogeneic hematopoietic stem cell transplantation is an effective and safe treatment for children with severe aplastic anemia in China. PMID:26125718

  6. Epidemiology of iron deficiency anemia in Zanzibari schoolchildren: the importance of hookworms13

    Microsoft Academic Search

    Rebecca J Stoltzfus; Hababu M Chwaya; James M Tielsch; Kerry J Schulze; Marco Albonico; Lorenzo Savioli

    Anemia is estimated to affect one-half of school-age children in developing countries. The school years are an opportune time to intervene, and interventions must be based on sound epidemiologic understanding of the problem in this age group. We report on the distribution of iron deficiency and anemia across age, sex, anthropometric indexes, and parasitic infections in a representative sample of

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

    PubMed Central

    Guagnozzi, Danila; Lucendo, Alfredo J

    2014-01-01

    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

  8. Severe microangiopathic hemolytic anemia and thrombocytopenia in a child with Brucella infection

    Microsoft Academic Search

    A. Yaramis; M. Kervancioglu; I. Yildirim; M. Soker; O. Derman; M. A. Tas

    2001-01-01

    We present a case of severe microangiopathic hemolytic anemia and thrombocytopenia with epistaxis, gross hematuria, hemoglobinuria, and skin purpura in a child with Brucella septicemia proven by culture. The patient showed the features of this illness: leukopenia, severe hemolytic anemia, thrombocytopenia, fragmentation of erythrocytes in the peripheral blood smear, increased erythropoiesis, megakaryopoiesis, and granulomata cell invasion in the bone marrow.

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

    PubMed Central

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

    2015-01-01

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

  10. [Anemia among schoolchildren 5 to 14 years old in Sainte Marie (Madagascar)].

    PubMed

    Blanchy, S; Genin, C; Rene, P; Randriasamimanana, J R; Lepers, J P

    1993-01-01

    The Island of Sainte Marie is located at 6 km from the Eastern Coast of Madagascar. The climate is a muggy tropical one, with an average temperature rising above 20 degrees C all along the year and precipitations superior to 2500 mm. In 1990, a clinical surveillance of ten affections has been performed by every health units of the Island: paludal syndromes, nutrition disorders and anemia have been the focus of symptomatic definition. Blood samples have been taken from 100 pupils of the village of Ambodiforaha for hemogram determination and research of malaria hematozoon. Four pupils out of five show biological anemia, more than 10% suffer from acute anemia (less than 3.5 millions of red blood cells for each microliters, hematocrit inferior to 30, less than 9 g of hemoglobin for 100 ml). 87% suffer from nutritional anemia, 17% from iron-deficient anemia. Those figures cannot be found in health statistics. There is a high rate of nutritional and iron deficient anemia, but the problem is not well perceived or not at all by the health system. Anemia must be related to the strength of paludal transmission, to the importance of nutrition disorders and the prevalence of intestinal parasitosis. A better knowledge of the epidemiology of anemias and their morbid consequences would allow the setting of a prevention programme useful for children under 5 years and for pregnant women. PMID:8192544

  11. Correction of Anemia in Uremic Rats by Intramuscular Injection of Lentivirus Carrying an Erythropoietin Gene

    Microsoft Academic Search

    Tae Keun Oh; Gui Hong Quan; Hae Young Kim; Frank Park; Seung Taik Kim

    2006-01-01

    Background: Anemia is an inevitable consequence of chronic renal failure. Gene therapy using lentiviral vector (LV) would be an effective tool to treat anemia associated with renal failure. Methods: A LV carrying the erythropoietin (EPO) cDNA was administered to skeletal muscle of partially nephrectomized rats, which is a model of uremia. The red blood cell production and serum EPO levels

  12. Mechanisms of anemia in SHP1 protein tyrosine phosphatase-deficient \\

    Microsoft Academic Search

    Bonnie L. Lyons; Michael A. Lynes; Lisa Burzenski; Melissa J. Joliat; Nacima Hadjout; Leonard D. Shultz

    Objective. Viable motheaten mice (abbreviated gene symbol me v ) are deficient in SHP-1, a critical negative regulator of signal transduction in hematopoietic cells. These mice exhibit se- vere immune dysfunction accompanied by hyperproliferation of myeloid cells, widespread in- flammatory lesions, and regenerative anemia. The aim of this study was to investigate the mechanisms underlying anemia in me v \\/

  13. Primary hypertrophic osteoarthropathy with myelofibrosis and anemia: a case report and review of literature

    PubMed Central

    Li, Sheyu; Li, Qianrui; Wang, Qin; Chen, Decai; Li, Jianwei

    2015-01-01

    Primary hypertrophic osteoarthropathy (PHO) is a rare and usually benign disorder of bone and connective tissue growth. Here we present a 28-year-old male patient presenting to our hospital with PHO and symptomatic anemia. Bone marrow biopsy suggested myelofibrosis, a serious complication of PHO, which is often neglected upon admission, but may lead to life-threatening anemia. PMID:25785156

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

    Microsoft Academic Search

    Javier P. Gisbert; Fernando Gomollón

    2008-01-01

    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

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

    Microsoft Academic Search

    Antonio Guasch; Millicent Cua; William E Mitch

    1996-01-01

    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 =

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

    E-print Network

    Valafar, Faramarz

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

  17. Age-related changes in adaptation to severe anemia in childhood in developing countries

    PubMed Central

    O'Donnell, Angela; Premawardhena, A.; Arambepola, M.; Allen, S. J.; Peto, T. E. A.; Fisher, C. A.; Rees, D. C.; Olivieri, Nancy F.; Weatherall, D. J.

    2007-01-01

    Severe forms of anemia in children in the developing countries may be characterized by different clinical manifestations at particular stages of development. Whether this reflects developmental changes in adaptation to anemia or other mechanisms is not clear. The pattern of adaptation to anemia has been assessed in 110 individuals with hemoglobin (Hb) E ?-thalassemia, one of the commonest forms of inherited anemia in Asia. It has been found that age and Hb levels are independent variables with respect to erythropoietin response and that there is a decline in the latter at a similar degree of anemia during development. To determine whether this finding is applicable to anemia due to other causes, a similar study has been carried out on 279 children with severe anemia due to Plasmodium falciparum malaria; the results were similar to those in the patients with thalassemia. These observations may have important implications both for the better understanding of the pathophysiology of profound anemia in early life and for its more logical and cost-effective management. PMID:17517643

  18. Is hepcidin the bridge linking Helicobacter pylori and anemia of chronic infection? A research proposal.

    PubMed

    Pellicano, R; Rizzetto, M

    2004-09-01

    Since the last decade, several studies have reported on the link between chronic Helicobacter pylori (H. pylori) or Helicobacter species (H. species) infection and a variety of extragastric manifestations, comprising iron-deficiency anemia. A crucial question concerns which possible pathogenic mechanism of H. pylori infection may be involved in chronic anemia. Recent findings support the hypothesis that in subjects with H. pylori-positive gastritis, concomitant changes in intragastric pH and ascorbic acid are present that might play a role in impairing alimentary iron absorption with consequent sideropenic anemia. It has also been speculated that H. pylori infected antrum could act as a sequestering focus for iron. The bacterium enhances gastric lactoferrin, which captures iron from transferrin. The iron thus bound to lactoferrin is in turn picked up by the bacterium, by means of its outer membrane receptors, for its own growth. These models, however, are not able to answer why iron-deficiency anemia does not develop in all infected subjects. Recently, a new anti-microbial liver-made peptide, namely hepcidin, has been characterised. The link between hepcidin induction, inflammation and anemia both in humans and in animal models supports its key role as mediator of anemia of inflammation. In the present paper, we highlight the data available on the association between H. pylori and iron-deficiency anemia and, we propose to evaluate a possible mechanism involving hepcidin in a bridging role linking the infection to the anemia. PMID:15510085

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

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

    ERIC Educational Resources Information Center

    M'Cormack, Fredanna; Drolet, Judy

    2012-01-01

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

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

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

    ERIC Educational Resources Information Center

    Howe, Eric Michael

    2007-01-01

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

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

    ERIC Educational Resources Information Center

    Fomon, Samuel J.

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

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

    ERIC Educational Resources Information Center

    Calvin, Richmond

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

  6. Localization of Fanconi Anemia C Protein to the Cytoplasm of Mammalian Cells

    Microsoft Academic Search

    Hagop Youssoufian

    1994-01-01

    Features of chromosomal aberrations, hypersensitivity to DNA crosslinking agents, and predisposition to malignancy have suggested a fundamental anomaly of DNA repair in Fanconi anemia. The function of the recently isolated FACC (Fanconi anemia group C complementing) gene for a subset of this disorder is not yet known. The notion that FACC plays a direct role in DNA repair would predict

  7. Bloom's syndrome and Fanconi's anemia: Demonstration of two distinctive patterns of chromosome disruption and rearrangement

    Microsoft Academic Search

    Traute M. Schroeder; James German

    1974-01-01

    A comparison of the patterns of chromosome breakage and rearrangements was made using lymphocytes from one patient with Bloom's syndrome and one with Fanconi's anemia. Chromatid and isochromatid gaps and breaks were increased in frequency in both conditions. In Fanconi's anemia, more aberrations per aberrant cell occurred than in Bloom's syndrome. The relative numbers of the various classes of interchanges

  8. Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients

    Microsoft Academic Search

    Zeeburg van H. T. J; P. J. F. Snijders; T. Wu; E. Gluckman; J. Soulier; J. Surralles; M. Castella; Wal van der J. E; J. Wennerberg; J. Califano; E. Velleuer; R. Dietrich; W. Ebell; E. Bloemena; H. Joenje; C. R. Leemans; R. H. Brakenhoff

    2008-01-01

    Fanconi anemia is a recessively inherited disease that is characterized by congenital abnormalities, bone marrow failure, and a predisposition to develop cancer, particularly squamous cell carcinomas (SCCs) in the head and neck and anogenital regions. Previous studies of Fanconi anemia SCCs, mainly from US patients, revealed the presence of high-risk human papillomavirus (HPV) DNA in 21 (84%) of 25 tumors

  9. Low dose 'Sprinkles' - An innovative Approach to Treat Iron Deficiency Anemia in Infants and Young Children

    Microsoft Academic Search

    Siddhivinayak Hirve; Sheila Bhave; Ashish Bavdekar; Sadanand Naik; Anand Pandit; Claudia Schauer; Anna Christofides; Ziauddin Hyder

    Iron supplementation programs using pediatric tablets or drops have not been successful in the control of anemia amongst infants and children in India. 'Sprinkles' is an innovative multi-micronutrient home fortification strategy to control iron deficiency and anemia. Objective: We aimed to determine the hematologic response to different doses and forms of iron in Sprinkles and iron drops. Setting: Twenty two

  10. Aplastic anemia and red cell aplasia due to pentachlorophenol

    SciTech Connect

    Roberts, H.J.

    1983-01-01

    Repeated exposure to commercial (technical grade) pentachlorophenol (PCP) preceded aplastic anemia in four patients and pure red cell aplasia in two. Two patients developed concomitant or subsequent Hodgkin's disease and acute leukemia. The hematologic, mutagenic, and carcinogenic effect of PCP and its chemical contaminants have been documented in other clinical and experimental reports. In view of the widespread contamination of our environment by PCP, clinicians and public health investigators must seek out such exposure in these and related disorders and initiate measures to reduce it.

  11. Pathology Case Study: Abdominal Distension, Weakness and Anemia

    NSDL National Science Digital Library

    Finkelstein, Sidney

    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.

  12. Fanconi Anemia: A Signal Transduction and DNA Repair Pathway

    PubMed Central

    Kupfer, Gary M.

    2013-01-01

    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

  13. Fanconi anemia and the repair of Watson and Crick crosslinks

    PubMed Central

    Kottemann, Molly C.; Smogorzewska, Agata

    2013-01-01

    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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed Central

    Lipton, Jeffrey M.; Ellis, Steven R.

    2009-01-01

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

  16. Development of a Reverse Genetics System to Produce Live, Attenuated Infectious Salmon Anemia Virus (ISAV) Vaccine Candidates

    E-print Network

    1 Development of a Reverse Genetics System to Produce Live, Attenuated Infectious Salmon Anemia Grant Number: NA03NMF4270132 March 29, 2006 Abstract Infectious salmon anemia (ISA), induced by the viral causative agent infectious salmon anemia virus (ISAV), has had a large, negative economic impact

  17. Sox6 Is Necessary for Efficient Erythropoiesis in Adult Mice under Physiological and Anemia-Induced Stress

    E-print Network

    Sox6 Is Necessary for Efficient Erythropoiesis in Adult Mice under Physiological and Anemia anemia-induced stress conditions are highly stimulated by the hormone erythropoietin. The transcription/fl ErGFPCre adult mice, which lacked Sox6 in erythroid cells, exhibited compensated anemia, erythroid

  18. Functions of Early (AP-2) and Late (AIP1/ALIX) Endocytic Proteins in Equine Infectious Anemia Virus Budding*

    E-print Network

    Weisz, Ora A.

    Functions of Early (AP-2) and Late (AIP1/ALIX) Endocytic Proteins in Equine Infectious Anemia Virus anemia virus (EIAV) is apparently unique in its reported ability to interact both with the 2 subunit be accessed by distinct L domain specificities. Equine infectious anemia virus (EIAV)2 is a member

  19. Efficacy of gluten-free diet alone on recovery from iron deficiency anemia in adult celiac patients

    Microsoft Academic Search

    Bruno Annibale; Carola Severi; Antonio Chistolini; Giorgio Antonelli; Edith Lahner; Adriana Marcheggiano; Carlo Iannoni; Bruno Monarca; Gianfranco Delle Fave

    2001-01-01

    OBJECTIVE:Iron deficiency anemia has been reported as the most frequent extraintestinal symptom in adult celiac disease. Prospective studies on the effect of gluten-free diet on recovery from iron deficiency anemia are lacking. The aim of this study was to verify in adult patients with celiac disease the efficacy of and the time course of recovery from iron deficiency anemia by

  20. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

    PubMed Central

    Walne, Amanda J.; Dokal, Arran; Plagnol, Vincent; Beswick, Richard; Kirwan, Michael; de la Fuente, Josu; Vulliamy, Tom; Dokal, Inderjeet

    2012-01-01

    The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to a Nimblegen exome library before being sequenced on a GAIIx genome analyzer. Once the disease causing homozygous mutation had been confirmed in the consanguineous family, this gene was then analyzed for mutation in 33 uncharacterized index cases of aplastic anemia (<13 years) using denaturing HPLC. Abnormal traces were confirmed by direct sequencing. Exome sequencing identified a novel homozygous nonsense mutation in the thrombopoietin receptor gene MPL. An additional novel homozygous MPL mutation was identified in the screen of 33 aplastic anemia patients. This study shows for the first time a link between homozygous MPL mutations and familial aplastic anemia. It also highlights the important role of MPL in trilineage hematopoiesis. PMID:22180433

  1. Iron deficiency and anemia: a common problem in female elite soccer players.

    PubMed

    Landahl, Göran; Adolfsson, Peter; Börjesson, Mats; Mannheimer, Clas; Rödjer, Stig

    2005-12-01

    The objective of the study was to determine the prevalence of iron deficiency and iron deficiency anemia among elite women soccer players. Hemoglobin, serum iron, serum total iron binding capacity, and ferritin were determined in 28 female soccer players called up for the national team. Of the investigated female soccer players, 57% had iron deficiency and 29% iron deficiency anemia 6 months before the FIFA Women's World Cup. It is concluded that iron deficiency and iron deficiency anemia is common in female soccer players at the top international level. Some might suffer from relative anemia and measurement of hemoglobin alone is not sufficient to reveal relative anemia. Regular monitoring of hemoglobin concentration and iron status is necessary to institute iron supplementation when indicated. PMID:16521852

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

    SciTech Connect

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

    1981-01-01

    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.

  3. The Effect of Erythropoiesis-Stimulating Agents in Patients with Therapy-Refractory Autoimmune Hemolytic Anemia

    PubMed Central

    Salama, Abdulgabar; Hartnack, Dirk; Lindemann, Hans-Walter; Lange, Hans-Joachim; Rummel, Mathias; Loew, Andreas

    2014-01-01

    Summary Background Many patients with autoimmune hemolytic anemia (AIHA) do not respond to standard therapy and/or may develop severe complications which can be of fatal outcome. There is some evidence that erythropoiesis-stimulating agents (ESAs) may be helpful in the management of such patients. Methods We describe the effect of ESAs in 12 new patients with therapy-refractory AIHA (7 of warm type and 5 of cold type) and review 5 previously reported cases. Serological testing was performed using standard methods. Results All patients responded well to treatment with ESAs. At least 5 of the 17 patients demonstrated complete recovery, and none of the patients developed significant adverse reactions due to treatment with ESAs. Conclusion The mechanism by which ESAs improves hemolysis in AIHA is not completely clear. In addition to increased production and prolonged RBC survival, it may inhibit eryptosis (programmed cell death). ESAs represent a new option in the treatment of decompensated and/or refractory AIHA of warm and cold type. However, more information is required to assess which patients can be treated with ESAs. PMID:25670934

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

    PubMed Central

    Baranwal, Annu; Baranwal, Anshu; Roy, Nobhojit

    2014-01-01

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

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed Central

    Lei, Huan; Karniadakis, George E.

    2013-01-01

    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 depending on the hematocrit. Under inflammation, adherent leukocytes may also trap ISC cells, resulting in vasoocclusion in even larger vessels. PMID:23798393

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

    PubMed

    Lei, Huan; Karniadakis, George E

    2013-07-01

    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

  8. Ribosomal protein gene deletions in Diamond-Blackfan anemia

    PubMed Central

    Vlachos, Adrianna; Atsidaftos, Eva; Carlson-Donohoe, Hannah; Markello, Thomas C.; Arceci, Robert J.; Ellis, Steven R.; Lipton, Jeffrey M.

    2011-01-01

    Diamond-Blackfan anemia (DBA) is a congenital BM failure syndrome characterized by hypoproliferative anemia, associated physical abnormalities, and a predisposition to cancer. Perturbations of the ribosome appear to be critically important in DBA; alterations in 9 different ribosomal protein genes have been identified in multiple unrelated families, along with rarer abnormalities of additional ribosomal proteins. However, at present, only 50% to 60% of patients have an identifiable genetic lesion by ribosomal protein gene sequencing. Using genome-wide single-nucleotide polymorphism array to evaluate for regions of recurrent copy variation, we identified deletions at known DBA-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A. No recurrent regions of copy variation at novel loci were identified. Because RPS17 is a duplicated gene with 4 copies in a diploid genome, we demonstrate haploinsufficient RPS17 expression and a small subunit ribosomal RNA processing abnormality in patients harboring RPS17 deletions. Finally, we report the novel identification of variable mosaic loss involving known DBA gene regions in 3 patients from 2 kindreds. These data suggest that ribosomal protein gene deletion is more common than previously suspected and should be considered a component of the initial genetic evaluation in cases of suspected DBA. PMID:22045982

  9. Helicobacter pylori-related iron deficiency anemia: a review.

    PubMed

    Barabino, Arrigo

    2002-04-01

    Several clinical reports have demonstrated that Helicobacter pylori gastric infection has emerged as a new cause of refractory iron deficiency anemia, unresponsive to iron therapy, and not attributable to usual causes such as intestinal losses or poor intake, malabsorption or diversion of iron in the reticulo-endothelial system. Although the interaction between infection and iron metabolism is now well consolidated, our understanding of the pathogenetic mechanism underlying the anemia is still wanting. Microbiological and ferrokinetic studies seem to suggest that Helicobacter pylori infected antrum could act as a sequestering focus for serum iron by means of outer membrane receptors of the bacterium, that in vitro are able to capture and utilize for growth iron from human lactoferrin. The proposed hypothesis does not answer why this complication is such a rare disease outcome in a common human infection but it may be used as a template for further controlled studies to determine the mechanisms of this atypical, medically important putative sequelae of H. pylori infection. PMID:11966864

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

    SciTech Connect

    Pimentel, J.L.; Greger, J.L.; Cook, M.E. (Univ. of Wisconsin, Madison (United States))

    1991-03-15

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

  11. Autoantibody to the gastrin receptor in pernicious anemia

    SciTech Connect

    de Aizpurua, H.J.; Ungar, B.; Toh, B.H.

    1985-08-22

    The authors examined serum IgG fractions from 20 patients with pernicious anemia and 25 control subjects for their capacity to inhibit binding of (/sup 125/I)15-leu human gastrin-17 to parietal-cell-enriched gastric mucosal cells. IgG fractions from six patients reduced gastrin binding by 45.6 +/- 12.2 per cent, as compared with a reduction of 1.8 +/- 0.7 per cent by fractions from the 25 controls. The fractions from these six patients also reduced gastrin-stimulated (/sup 14/C)aminopyrine uptake by gastric cells (an index of gastric acid secretory activity in vitro) by 50.2 +/- 8.4 per cent (mean +/- S.D.), as compared with 9.2 +/- 4.1 per cent for the controls. IgG fractions from six other patients that did not reduce gastrin binding also inhibited gastrin-stimulated (/sup 14/C)aminopyrine uptake, by 48.1 +/- 9.1 per cent. These reductions in gastrin binding and aminopyrine uptake were abolished by absorption of the IgG fractions with suspensions of viable gastric mucosal cells but not by absorption with liver or kidney cells. The IgG fractions did not inhibit (/sup 3/H)histamine binding or histamine-stimulated (/sup 14/C)aminopyrine uptake. These results suggest that serum IgG from some patients with pernicious anemia contains autoantibodies to the gastrin receptor.

  12. Anti-carbonic anhydrase antibodies in iron deficiency anemia.

    PubMed

    Mente?e, Ahmet; Erkut, Nergiz; Sümer, Ay?egül; Us Altay, Diler; Alver, Ahmet; Sönmez, Mehmet

    2015-07-01

    Objectives Studies on experimental animals have shown that elevated oxidative stress in erythrocytes leads to the formation of autoantibodies against carbonic anhydrase (CA) and anemia. This study investigated the presence of CA I and II autoantibodies in patients with iron deficiency anemia (IDA). Methods Forty patients with IDA and 40 healthy controls were included in the study. Serum CA I and II autoantibody levels were analyzed using enzyme-linked immunosorbent assay. Serum malondialdehyde (MDA) levels were also measured in order to evaluate oxidative stress. Results CA I and II antibody titers in patients with IDA were higher than those in the controls (P = 0.005 and 0.010, respectively). A weak negative correlation was determined between anti-CA I antibody titers and ferritin, iron and mean cell volume (MCV) levels (P = 0.013, 0.042, and 0.021, respectively). Serum MDA levels were also signi?cantly higher in the IDA group (P < 0.001). At an anti-CA I cut-off point of 0.155 absorbance unit (ABSU), sensitivity was 70% and specificity 65%. At an anti-CA II cut-off point of 0.088 ABSU, sensitivity was 60% and specificity 75%. Discussion and conclusion In conclusion, an immune response against CA I and II develops in IDA. CA I autoantibodies are correlated with hematological parameters used in the diagnosis of IDA and have the potential to be used in treatment. PMID:25283602

  13. Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia

    PubMed Central

    Farrar, Jason E; Dahl, Niklas

    2011-01-01

    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

  14. Skin and mucosal human papillomavirus seroprevalence in persons with fanconi anemia.

    PubMed

    Katzenellenbogen, Rachel A; Carter, Joseph J; Stern, Joshua E; Butsch Kovacic, Melinda S; Mehta, Parinda A; Sauter, Sharon L; Galloway, Denise A; Winer, Rachel L

    2015-04-01

    Persons with Fanconi anemia (FA) are at risk for human papillomavirus (HPV)-associated cancers; however, their natural HPV exposure and infection rates are unknown as is the adequacy with which they mount antibodies to HPV vaccination. This study aimed to determine, in 62 persons with FA, the seroprevalence of skin and mucosal HPV types, the seroprevalence in individuals self-reporting a history of HPV vaccination, and the factors associated with HPV seropositivity. A bead Luminex assay was used to determine seropositivity for HPV1, -2, and -4 (low-risk skin), -6 and -11 (low-risk mucosal, included in one HPV vaccine), -16 and -18 (high-risk mucosal, included in both HPV vaccines), and -52 and -58 (high-risk mucosal). Health- and behavior-related questionnaires were completed. Type-specific seroprevalence estimates and participant characteristics associated with seroprevalence were calculated; 48% reported HPV vaccination. Type-specific seropositivity in unvaccinated persons ranged from 7 to 21% for skin HPV types and 7 to 38% for mucosal HPV types. Among the unvaccinated participants, adults versus children demonstrated increased HPV1, -6, -16, and -58 seroprevalence of 45% versus 6%, 64% versus 22%, 64% versus 17%, and 36% versus 0%, respectively (all P < 0.05). The vaccinated participants versus the nonvaccinated participants demonstrated increased seroprevalence of HPV6, -11, -16, and -18 of 92% versus 38%, 92% versus 24%, 96% versus 34%, and 75% versus 7%, respectively (all P < 0.0001). Our data demonstrate that the unvaccinated participants had serologic evidence of prior skin and mucosal HPV infections and that seroprevalence increased among adults; in self-reported vaccinees, seroprevalence of HPV vaccine types was 75 to 96%. PMID:25651924

  15. Elevated Hepcidin Is Part of a Complex Relation That Links Mortality with Iron Homeostasis and Anemia in Men and Women with HIV Infection123

    PubMed Central

    Minchella, Peter A; Armitage, Andrew E; Darboe, Bakary; Jallow, Momodou W; Drakesmith, Hal; Jaye, Assan; Prentice, Andrew M; McDermid, Joann M

    2015-01-01

    Background: Early and chronic inflammation is a hallmark of HIV infection, and inflammation is known to increase hepcidin expression. Consequently, hepcidin may be a key determinant of the iron homeostasis and anemia associated with poorer HIV prognoses. Objective: The objective of this study was to understand how hepcidin is related to anemia, iron homeostasis, and inflammation at HIV diagnosis and to investigate associations between hepcidin and all-cause mortality in HIV infection. Methods: In a retrospective cohort, baseline plasma hepcidin was measured by competitive enzyme immunoassay within 3 mo of HIV diagnosis in 196 antiretroviral-naive Gambians. Iron homeostasis [hemoglobin, plasma transferrin, ferritin, iron, soluble transferrin receptor (sTfR)] and inflammation [?1-antichymotrypsin (ACT)] from the same plasma sample were available, as were absolute CD4 cell counts, age, gender, body mass index (BMI), and HIV type. Results: Anemia was common across the spectrum of immunosuppression [CD4 cell counts (prevalence of anemia): >500 cells/?L (68%), 200–500 cells/?L (73%), and <200 cells/?L (89%); P = 0.032] and in men (81%) and women (76%). Increasing hepcidin was associated with iron homeostasis biomarkers (higher ferritin and lower transferrin, hemoglobin, and sTfR), inflammation (higher ACT), and key health indicators (lower CD4 or BMI, advancing age, and male gender; P < 0.001 except for hemoglobin, P = 0.021). Elevated hepcidin was associated with greater all-cause mortality in a dose-dependent manner [intermediate vs. lowest tertile: unadjusted HR (95% CI), 1.95 (1.22, 3.10); upper vs. lowest tertile: 3.02 (1.91, 4.78)]. Principal components analysis identified 2 patterns composed of hepcidin-ferritin-transferrin, with or without ACT, and iron-sTfR-hemoglobin that may distinguish inflammation and erythropoiesis iron functions. Conclusions: Elevated hepcidin is independently associated with greater mortality in men and women with HIV infection, and hepcidin is also part of a complex relation linking iron homeostasis, anemia, and HIV. Understanding the mechanisms and role of hepcidin modulation may further guide evidence-based interventions needed to counter detrimental iron homeostasis and anemia in HIV infection. PMID:25904736

  16. A New Measure of Patient Responsiveness for Improving Anemia Management Protocols MJ Germain1, CV Hollot2, J Horowitz3, and RP Shrestha4, Y Chait5

    E-print Network

    Massachusetts at Amherst, University of

    A New Measure of Patient Responsiveness for Improving Anemia Management Protocols MJ Germain1, CV on performance of anemia management protocols. · Anemia of end-stage kidney disease (ESRD) is characterized-specific gains should play a role in their design. · The interaction of anemia management protocols (AMPs

  17. Bio-Rad Laboratories I M M U N O A S S A Y C O N T R O L S Anemia Control

    E-print Network

    Rodriguez, Carlos

    Bio-Rad Laboratories I M M U N O A S S A Y C O N T R O L S Lyphochek® Anemia Control #12;Clinical S Lyphochek® Anemia Control Provides low/deficient values for many analytes specific to anemia, as well Ferritin, Folate, Vitamin B12 and TSH values Ordering Information Cat # Lyphochek® Anemia Control Quantity

  18. The surface envelope protein gene region of equine infectious anemia virus is not an important determinant of tropism in vitro.

    PubMed Central

    Perry, S T; Flaherty, M T; Kelley, M J; Clabough, D L; Tronick, S R; Coggins, L; Whetter, L; Lengel, C R; Fuller, F

    1992-01-01

    Virulent, wild-type equine infectious anemia virus (EIAV) is restricted in one or more early steps in replication in equine skin fibroblast cells compared with cell culture-adapted virus, which is fully competent for replication in this cell type. We compared the sequences of wild-type EIAV and a full-length infectious proviral clone of the cell culture-adapted EIAV and found that the genomes were relatively well conserved with the exception of the envelope gene region, which showed extensive sequence differences. We therefore constructed several wild-type and cell culture-adapted virus chimeras to examine the role of the envelope gene in replication in different cell types in vitro. Unlike wild-type virus, which is restricted by an early event(s) for replication in equine dermis cells, the wild-type outer envelope gene chimeras are replication competent in this cell type. We conclude that even though there are extensive sequence differences between wild-type and cell culture-adapted viruses in the surface envelope gene region, this domain is not a determinant of the differing in vitro cell tropisms. Images PMID:1318398

  19. The use of multiplexed MRM for the discovery of biomarkers to differentiate iron-deficiency anemia from anemia of inflammation.

    PubMed

    Domanski, Dominik; Cohen Freue, Gabriela V; Sojo, Luis; Kuzyk, Michael A; Ratkay, Leslie; Parker, Carol E; Goldberg, Y Paul; Borchers, Christoph H

    2012-06-27

    In this study we demonstrate the use of a multiplexed MRM-based assay to distinguish among normal (NL) and iron-metabolism disorder mouse models, particularly, iron-deficiency anemia (IDA), inflammation (INFL), and inflammation and anemia (INFL+IDA). Our initial panel of potential biomarkers was based on the analysis of 14 proteins expressed by candidate genes involved in iron transport and metabolism. Based on this study, we were able to identify a panel of 8 biomarker proteins: apolipoprotein A4 (APO4), transferrin, transferrin receptor 1, ceruloplasmin, haptoglobin, lactoferrin, hemopexin, and matrix metalloproteinase-8 (MMP8) that clearly distinguish among the normal and disease models. Within this set of proteins, transferrin showed the best individual classification accuracy over all samples (72%) and within the NL group (94%). Compared to the best single-protein biomarker, transferrin, the use of the composite 8-protein biomarker panel improved the classification accuracy from 94% to 100% in the NL group, from 50% to 72% in the INFL group, from 66% to 96% in the IDA group, and from 79% to 83% in the INFL+IDA group. Based on these findings, validation of the utility of this potentially important biomarker panel in human samples in an effort to differentiate IDA, inflammation, and combinations thereof, is now warranted. This article is part of a Special Section entitled: Understanding genome regulation and genetic diversity by mass spectrometry. PMID:22146476

  20. Phagocytosis, oxidative burst, and produced reactive species are affected by iron deficiency anemia and anemia of chronic diseases in elderly.

    PubMed

    Paino, I M M; Miranda, J C; Marzocchi-Machado, C M; Cesarino, E J; de Castro, F A; de Souza, A M

    2009-01-01

    Iron and oxidative stress have a regulatory interplay. During the oxidative burst, phagocytic cells produce free radicals such as hypochlorous acid (HOCl). Nevertheless, scarce studies evaluated the effect of either iron deficiency anemia (IDA) or anemia of chronic disease (ACD) on phagocyte function in the elderly. The aim of the present study was to determine the oxidative burst, phagocytosis, and nitric oxide (*NO) and HOCl, reactive species produced by monocytes and neutrophils in elderly with ACD or IDA. Soluble transferrin receptor, serum ferritin, and soluble transferrin receptor/log ferritin (TfR-F) index determined the iron status. The study was constituted of 39 patients aged over 60 (28 women and 11 men) recruited from the Brazilian Public Health System. Oxidative burst fluorescence intensity per neutrophil in IDA group and HOCl generation in both ACD and IDA groups were found to be lower (p < 0.05). The percentages of neutrophils and monocytes expressing phagocytosis in ACD group were found to be higher (p < 0.05). There was an overproduction of *NO from monocytes, whereas the fundamental generation of HOCl appeared to be lower. Phagocytosis, oxidative burst, and *NO and HOCl production are involved in iron metabolism regulation in elderly patients with ACD and IDA. PMID:19129984

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2014-12-01

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

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

    PubMed Central

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

    2015-01-01

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

  4. Prevalence of Anemia and Its Risk Factors Among Lactating Mothers in Myanmar

    PubMed Central

    Zhao, Ai; Zhang, Yumei; Li, Bo; Wang, Peiyu; Li, Jiayin; Xue, Yong; Gao, Hongchong

    2014-01-01

    In Myanmar, 60% of the population consists of mothers and children, and they are the groups most vulnerable to anemia. The objectives of this study are to determine (1) the anemia prevalence among lactating women and (2) the risk factors associated with anemia. Convenience sampling was used to select three villages in two different regions (Kachin and Shan) in Myanmar. Hemoglobin and anthropometric indicators were measured for 733 lactating women. Logistic regression analyses were used to determine factors associated with anemia. The anemia prevalence rate was 60.3% in lactating women, with 20.3% of lactating women having severe anemia. Factors of malnutrition (P = 0.026), self-reported symptoms of night blindness or poor dark adaptation (P < 0.001), lack of primary education experience (P < 0.001), low family annual capita income (< 800 MMK; P < 0.001), drinking spring or river water (P < 0.001), and drinking unboiled water (P = 0.016) were associated with anemia. To promote health in lactating women, a comprehensive intervention is needed in these regions. PMID:24639302

  5. Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis

    PubMed Central

    Broseus, Julien; Florensa, Lourdes; Zipperer, Esther; Schnittger, Susanne; Malcovati, Luca; Richebourg, Steven; Lippert, Eric; Cermak, Jaroslav; Evans, Jyoti; Mounier, Morgane; Raya, José Maria; Bailly, François; Gattermann, Norbert; Haferlach, Torsten; Garand, Richard; Allou, Kaoutar; Besses, Carlos; Germing, Ulrich; Haferlach, Claudia; Travaglino, Erica; Luno, Elisa; Pinan, Maria Angeles; Arenillas, Leonor; Rozman, Maria; Perez Sirvent, Maria Luz; Favre, Bernardine; Guy, Julien; Alonso, Esther; Ahwij, Nuhri; Jerez, Andrés; Hermouet, Sylvie; Maynadié, Marc; Cazzola, Mario; Girodon, François

    2012-01-01

    Background Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis. For each of these patients, each patient diagnosed with refractory anemia with ring sideroblasts was matched for age and sex. At the same time, a cohort of 454 patients with essential thrombocythemia was used to compare outcomes of the two diseases. Results In patients with refractory anemia with ring sideroblasts and marked thrombocytosis, depending on the Janus Kinase 2 V617F mutational status (positive or negative) or platelet threshold (over or below 600×109/L), no difference in survival was noted. However, these patients had shorter overall survival and leukemia-free survival with a lower risk of thrombotic complications than did patients with essential thrombocythemia (P<0.001) but better survival (P<0.001) and a higher risk of thrombosis (P=0.039) than patients with refractory anemia with ring sideroblasts. Conclusions The clinical course of refractory anemia with ring sideroblasts and marked thrombocytosis is better than that of refractory anemia with ring sideroblasts and worse than that of essential thrombocythemia. The higher risk of thrombotic events in this disorder suggests that anti-platelet therapy might be considered in this subset of patients. From a clinical point of view, it appears to be important to consider refractory anemia with ring sideroblasts and marked thrombocytosis as a distinct entity. PMID:22532522

  6. Anemia and erythropoietin levels in lung transplant recipients.

    PubMed

    End, A; Stift, A; Wieselthaler, G; Griesmacher, A; Schlechta, B; Koppensteiner, R; Schreiner, W; Geissler, K; Stockenhuber, F; Klepetko, W

    1995-12-15

    An evaluation of 26 surviving outpatient lung transplant recipients at one center showed that 65% (17/26) had significant anemia (hemoglobin < 11 g/L for women, < 14 g/dl for men) at a median follow-up of 13.5 months after transplantation (range, 1-41 months). There were 14 men and 12 women with a mean age of 45.1 years (range, 23.1-66.7 years). Fifteen had a double allograft and 11 had a single allograft. Anemia was normochromic and normocytic/macrocytic with a tendency to anisocytosis, with normal reticulocyte counts. Iron deficiency (transferrin saturation < 20%) was found in 35% (6/17) of anemic patients, and two of them also had ferritin levels < 15 micrograms/L. In addition, vitamin B12 was decreased in 1 patient. Folate levels were all normal. Erythropoietin levels were significantly decreased in anemic lung transplant recipients as compared with nontransplanted iron-deficient anemic patients (median, 1 mU/ml, range 1-41 mU/ml, vs. 53 mU/ml, 15-88 mU/ml; P < 0.05). In nonanemic lung transplant recipients, erythropoietin levels were decreased too, as compared with normal controls (median, 2 mU/ml, range 1-21 mU/ml, vs. 5 mU/ml, 3-32 mU/ml; P < 0.05). Investigation of peripheral stem cells in 9 patients showed normal stimulation of erythroids (burst-forming unit, erythroid; median, 573 cells/ml; range, 128-1898 cells/ml) independent of erythropoietin concentrations. Analysis of putative prognostic factors, such as age, surgical procedure (double vs. single lung allograft), indication for transplantation, time after transplantation, infection status, presence of bronchiolitis obliterans, immunosuppression (+/- azathioprine), serum creatinine, creatinine clearance, hypertension, and arterial partial pressure of oxygen, did not demonstrate any difference in erythropoietin concentrations. Only the sex variable revealed a trend to higher levels in women than in men (median, 4 mU/ml, range 1-41 mU/ml, vs. 1 mU/ml, 1-16 mU/ml; P > 0.05). The causes for low erythropoietin levels are not quite understood yet; however, they offer a rationale for the treatment of chronic anemia with recombinant human erythropoietin. PMID:8525518

  7. Cerebral sinovenous thrombosis associated with iron deficiency anemia secondary to severe menorrhagia: a case report.

    PubMed

    Corrales-Medina, Fernando F; Grant, Leon; Egas-Bejar, Daniela; Valdivia-Ascuna, Zoila; Rodriguez, Nidra; Mancias, Pedro

    2014-09-01

    Cerebral sinovenous thrombosis is a rare condition presenting with a wide spectrum of nonspecific symptoms that can make early diagnosis difficult. Cerebral sinovenous thrombosis has been associated with various etiologies. Iron deficiency anemia associated with cerebral sinovenous thrombosis in teenagers is rare. We present a teenage patient with complete thrombosis of the vein of Galen, straight sinus, and left internal cerebral vein associated with iron deficiency anemia due to severe menorrhagia. Mechanisms that can explain the association between iron deficiency anemia and thrombosis are discussed. PMID:24056151

  8. [Regional differences in prevalence of anemia found by periodic health checkups at workplaces in Japan].

    PubMed

    Shimomura, Tomoko; Wakabayashi, Ichiro

    2010-01-01

    Anemia-related blood examinations are included in examinations for periodic health checkups at workplaces designated by the Industrial Safety and Health Law in Japan. The aim of this study was to determine whether there were regional differences in the prevalence of anemia in workers and, if so, to investigate possible reasons for the differences. Relationships between prevalence of anemia found by periodic health checkups and some common factors related to anemia in each prefecture of Japan were investigated by ecological regression analysis using Spearman's rank correlation coefficient. There were regional differences in the prevalence of anemia in the prefectures of Japan (5.2-11.7%), and high prevalence was observed in prefectures in the northeastern district, such as Iwate, Akita and Yamagata Prefectures, and in Fukui, Shimane and Nagasaki Prefectures. Prevalence of anemia in each prefecture was significantly correlated with the prevalence of hypertension, dyslipidemia, liver dysfunction, abnormality in ECG, hyperglycemia or glucosuria at health checkups in each prefecture. Prevalence of anemia in each prefecture was significantly correlated with the percentage of patients receiving therapy for anemia in each prefecture but not with the prevalence of myoma uteri, endometriosis uteri or mortality of uterus cancer in each prefecture. There was also no significant correlation of the prevalence of anemia with the prevalence of iron-deficiency anemia or dietary iron intake in each prefecture. The prevalence of anemia in each prefecture showed significant positive correlations with the ratio of female population to total population and the ratio of female workers to total workers in each prefecture; it also showed a significant negative correlation with the ratio of the number of large-sized workplaces (300 or more workers) to the number of workplaces with 50 or more workers in each prefecture. A considerable regional difference in the prevalence of anemia was found by periodic health checkups at workplaces, and we consider that this difference is not due to regional differences in the incidence of diseases causing genital bleeding in women but to regional differences in the ratio of female workers to total workers and the status of health control at the workplace, which depends on size of the workplace. PMID:19942817

  9. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

    PubMed

    Hildick-Smith, Gordon J; Cooney, Jeffrey D; Garone, Caterina; Kremer, Laura S; Haack, Tobias B; Thon, Jonathan N; Miyata, Non; Lieber, Daniel S; Calvo, Sarah E; Akman, H Orhan; Yien, Yvette Y; Huston, Nicholas C; Branco, Diana S; Shah, Dhvanit I; Freedman, Matthew L; Koehler, Carla M; Italiano, Joseph E; Merkenschlager, Andreas; Beblo, Skadi; Strom, Tim M; Meitinger, Thomas; Freisinger, Peter; Donati, M Alice; Prokisch, Holger; Mootha, Vamsi K; DiMauro, Salvatore; Paw, Barry H

    2013-11-01

    We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia. PMID:24119684

  10. Cisplatin-induced anemia: a potential interference with iron metabolism at erythroid progenitors level.

    PubMed

    Dufour, P; Bergerat, J P; Eber, M; Renaud, P; Karcher, V; Giron, C; Leroy, M J; Oberling, F

    1990-10-01

    To elucidate the potential mechanisms of anemia induced by cisplatin (CDDP) we have evaluated hemolysis, dyserythropoiesis, ferrokinetics and cytotoxicity on erythroid progenitors in 12 patients treated by a CDDP-containing combination chemotherapy and in 6 patients treated by a similar combination but without CDDP. Eight patients, from the CDDP treated group, experienced a pronounced anemia. None had signs of hemolysis. Ferrokinetic study showed a very deep and protracted decrease of 59Fe incorporation during the chemotherapy cycle and the following 2 weeks. These results, along with a normal medullary erythroblastic cellularity, suggest that CDDP induces a deep but transient erythropoiesis alteration leading to anemia in some cases. PMID:2131037

  11. Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

    PubMed Central

    Hildick-Smith, Gordon J.; Cooney, Jeffrey D.; Garone, Caterina; Kremer, Laura S.; Haack, Tobias B.; Thon, Jonathan N.; Miyata, Non; Lieber, Daniel S.; Calvo, Sarah E.; Akman, H. Orhan; Yien, Yvette Y.; Huston, Nicholas C.; Branco, Diana S.; Shah, Dhvanit I.; Freedman, Matthew L.; Koehler, Carla M.; Italiano, Joseph E.; Merkenschlager, Andreas; Beblo, Skadi; Strom, Tim M.; Meitinger, Thomas; Freisinger, Peter; Donati, M. Alice; Prokisch, Holger; Mootha, Vamsi K.; DiMauro, Salvatore; Paw, Barry H.

    2013-01-01

    We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia. PMID:24119684

  12. Effect of anemia on tumor radiosensitivity under normo and hyperbaric conditions

    SciTech Connect

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

    1987-11-01

    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.

  13. Squamous cell vulvar carcinoma associated with Fanconi's anemia: a case report.

    PubMed

    Carvalho, J P; Dias, M L Nogueira; Carvalho, F M; Del Pilar Estevez Diz, M; Petito, J W

    2002-01-01

    Fanconi's anemia (FA) is a rare autosomal recessive syndrome associated with a strong predisposition to cancer, particularly squamous cell carcinoma (SCC) of various organs. A few cases of lower genital tract neoplasia have been described. We present a 14-year-old black girl with an advanced squamous cell vulvar carcinoma treated with cisplatin chemotherapy plus radiation therapy. The patient died because of fungal sepsis. Polymerase chain reaction (PCR) was positive to human papillomavirus (HPV)-16. Vulvar carcinoma is a very rare condition in teenagers, but the association of Fanconi's anemia and SCC of many sites is common. Vulvar carcinoma when associated with Fanconi's anemia is a great treatment challenge. PMID:11975685

  14. Endometriosis presenting with hemorrhagic ascites, severe anemia, and shock.

    PubMed

    Morgan, Trent L; Tomich, Eric B; Heiner, Jason D

    2013-01-01

    Hemorrhagic ascites due to endometriosis is an exceedingly uncommon diagnosis rarely reported in the medical literature. We present a case of a 27-year-old woman who presented to the emergency department for flank and neck pain and was found to be hypotensive with massive hemorrhagic ascites and severe anemia. After emergency department resuscitation and hospitalization, her condition was found to be due to complications of endometriosis. A paracentesis of more than 4000 mL of bloody ascitic fluid revealed no evidence of cancer, and she was discharged on hospital day 3 with hormone therapy and no recurrence of symptoms upon outpatient follow-up. This case illustrates the clinical management, diagnostic approach, and underlying etiology of an infrequent but life-threatening complication of endometriosis. PMID:22809773

  15. Bone marrow necrosis – initial presentation in sickle cell anemia

    PubMed Central

    Shafiq, Maria; Ali, Natasha

    2013-01-01

    Patient: Male, 20 Final Diagnosis: Sickle cell anemia Symptoms: Bone marrow necrosis • bone pain • fever • hepatomegaly • icterus • splenomegaly • weakness Medication: — Clinical Procedure: — Specialty: Hematology Objective: Unusual clinical course Background: In sickle cell disease, bone involvement is the commonest clinical presentation in the acute as well as chronic setting presenting as painful vaso-occlusive crisis and avascular necrosis, respectively. Other complications include bone marrow necrosis and infarction. Case Report: We report a case of a 20-year-old male who was referred for bone marrow evaluation due to symptoms of fever, weakness, and repeated episodes of bone pains. Bone trephine biopsy revealed multiple areas of central necrosis surrounded by fibroblasts. Conclusions: Recognition of necrosis through bone trephine biopsy is important for early initiation of therapy. PMID:24167641

  16. Paramagnetic Europium Salen Complex and Sickle-Cell Anemia

    NASA Astrophysics Data System (ADS)

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

    2005-04-01

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

  17. Pathology Case Study: Anemia, Thrombocytopenia and Renal Insufficiency

    NSDL National Science Digital Library

    Najjar, Hazim

    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 â??worsening anemia, thrombocytopenia, and renal insufficiency.â?ť Additional information on the patientâ??s 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 â??Final Diagnosisâ?ť 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 patientâ??s conditions. It is also a helpful site for educators to use to introduce or test student knowledge of clinical immunology.

  18. [Bacillus cereus septicemia in a patient with severe aplastic anemia].

    PubMed

    Ueda, K; Konishi, M; Maeda, K; Hamada, K; Sakamoto, M; Yoshimoto, E; Majima, T; Mikasa, K; Kita, E; Sano, R; Masutani, T; Narita, N

    1998-12-01

    A 78-year-old female was admitted with complaints of malaise and fatigue in the legs. The patient was diagnosed as severe aplastic anemia and treatment was started with metenolone and steroid pulse therapy. Administration of antibiotics and granulocyte-colony stimulating factor which led to a resolution of the high fever. About four months after admission, the patient developed vomiting and abdominal pain with a spiking fever. The next day after suddenly losing consciousness, she died. B. cereus was isolated from blood cultures. Autopsy specimens of the liver, cardiac muscle and lung showed changes due to B. cereus. This pathogen is widely distributed in nature. We should not overlook B. cereus as a contamination, but rather should consider it a potential pathogen in immunocompromised hosts, when it is isolated from blood cultures. PMID:9916422

  19. [Establishing aplastic anemia animal model based on different pathogenesis].

    PubMed

    Zhang, Yu-Chen; Zhao, Ming-Feng

    2015-02-01

    Aplastic anemia(AA) is a disease,including congenital AA and acquired AA, characterized by an extremely hypocellular marrow and peripheral blood pancytopenia due to bone marrow failure. Congenital AA is a autosomal recessive disease due to gene mutation. Persently, acquired AA is recognized as a disease caused by destruction of hematopoietic stem cells, defective marrow microenvironment and aberrant T cellular-immunity. In order to further study its pathogenesis and to choose effective therapeutic target, it has important clinical significance to establish correspondent animal model based on different pathogenesis. This article summarizes the congenital AA amimal models including Fanc A(-/-) mouse, Fanc C(-/-) mouse, Fanc G(-/-) mouse, Fanc D1(-/-)/Fanc 2(-/-) mouse, Fanc D2(-/-) mouse and other gene deficiency mouse AA models, and the acguired AA models resulting from the hematopoietic stem cell decrease, hematopoietic microenvironment injury, immune mediation and combination of hematopoietic stem cell dicrease with immune mediation. PMID:25687089

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

    PubMed

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

    2013-11-01

    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

  1. L-leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway

    PubMed Central

    Virgilio, Maria; Narla, Anupama; Sun, Hong; Levine, Michelle; Paw, Barry H.; Berliner, Nancy; Look, A. Thomas; Ebert, Benjamin L.

    2012-01-01

    Haploinsufficiency of ribosomal proteins (RPs) has been proposed to be the common basis for the anemia observed in Diamond-Blackfan anemia (DBA) and myelodysplastic syndrome with loss of chromosome 5q [del(5q) MDS]. We have modeled DBA and del(5q) MDS in zebrafish using antisense morpholinos to rps19 and rps14, respectively, and have demonstrated that, as in humans, haploinsufficient levels of these proteins lead to a profound anemia. To address the hypothesis that RP loss results in impaired mRNA translation, we treated Rps19 and Rps14-deficient embryos with the amino acid L-leucine, a known activator of mRNA translation. This resulted in a striking improvement of the anemia associated with RP loss. We confirmed our findings in primary human CD34+ cells, after shRNA knockdown of RPS19 and RPS14. Furthermore, we showed that loss of Rps19 or Rps14 activates the mTOR pathway, and this is accentuated by L-leucine in both Rps19 and Rps14 morphants. This effect could be abrogated by rapamycin suggesting that mTOR signaling may be responsible for the improvement in anemia associated with L-leucine. Our studies support the rationale for ongoing clinical trials of L-leucine as a therapeutic agent for DBA, and potentially for patients with del(5q) MDS. PMID:22734070

  2. Sickle Cell Anemia: Iron Availability and Nocturnal Oximetry

    PubMed Central

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

    2012-01-01

    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

  3. Mutation analysis of the Fanconi Anemia Gene FACC

    SciTech Connect

    Verlander, P.C.; Lin, J.D.; Udono, M.U.; Zhang, Q.; Auerbach, A.D. (Rockefeller Univ., New York, NY (United States)); Gibson, R.A.; Mathew, C.G. (Guy's Hospital, London (United Kingdom))

    1994-04-01

    Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disorder characterized by a unique hypersensitivity of cells to DNA cross-linking agents; a gene for complementation group C (FACC) has recently been cloned. The authors have amplified FACC exons with their flanking intron sequences from genomic DNA from 174 racially and ethnically diverse families in the International Fanconi Anemia Registry and have screened for mutations by using SSCP analysis. They have identified eight different variants in 32 families; three were detected in exon 1, one in exon 4, one in intron 4, two in exon 6, and one in exon 14. Two of the eight variants, in seven families, did not segregate with the disease allele in multiplex families, suggesting that these variants represented benign polymorphisms. Disease-associated mutations in FACC were detected in a total of 25 (14.4%) of 174 families screened. The most frequent mutations were IVS4 + 4 A [yields] T (intron 4; 12 families) and 322delG (exon 1; 9 families). Other, less common mutations include Q13X in exon 1, R185X and D195V in exon 6, and L554P in exon 14. The polymorphisms were S26F in exon 1 and G139E in exon 4. All patients in the study with 322delG, Q13X, R185X, and D195V are of northern or eastern European or southern Italian ancestry, and 18 of 19 have a mild form of the disease, while the 2 patients with L554P, both from the same family, have a severe phenotype. All 19 patients with IVS4 + 4 A [yields] T have Jewish ancestry and have a severe phenotype. 19 refs., 1 fig., 3 tabs.

  4. New Insights Into the Role of Equine Infectious Anemia Virus S2 Protein in Disease Expression 

    E-print Network

    Covaleda Salas, Lina M.

    2011-08-08

    Equine infectious anemia virus (EIAV) is an important animal model to study the contribution of macrophages in viral persistence during lentiviral infections. EIAV is unique amongst the lentiviruses in that it causes a rapid, rather than the very...

  5. Influence of Surface Protein V6 Region of Equine Infectious Anemia Virus on Cytokine Gene Expression 

    E-print Network

    Lamon, Tennille Krystal

    2014-08-14

    Equine infectious anemia virus (EIAV) is a member of the lentivirus group of the family Retroviridae. EIAV encodes a highly glycosylated SU (surface) protein with interspersed conserved and variable regions. The variable regions are thought to play...

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

    PubMed Central

    Just, Mark Jean; Kozakiewicz, Mariusz

    2015-01-01

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

  7. Uncommon sites of bone infarction in a sickle cell anemia patient

    Microsoft Academic Search

    I. Garty; A. Koren; E. Katzumi

    1983-01-01

    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.

  8. New Insights Into the Role of Equine Infectious Anemia Virus S2 Protein in Disease Expression

    E-print Network

    Covaleda Salas, Lina M.

    2011-08-08

    Equine infectious anemia virus (EIAV) is an important animal model to study the contribution of macrophages in viral persistence during lentiviral infections. EIAV is unique amongst the lentiviruses in that it causes a rapid, rather than the very...

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

    ERIC Educational Resources Information Center

    Fox, Marty; Gaynor, John J.

    1996-01-01

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

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

    ClinicalTrials.gov

    2012-02-19

    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

  11. CNS intravascular large cell lymphoma in a patient with autoimmune hemolytic anemia

    E-print Network

    2015-01-01

    O, Turner J, et al. Autoimmune disorders and risk of non-autoimmune hemolytic anemia, leukoencephalopathy INTRODUCTION Intravascular large cell lymphoma (IVLCL) is a rare and aggressive lymphoproliferative disorder

  12. Monitoring and Prevention of Anemia Relying on Nutrition and Environmental Conditions in Sports

    PubMed Central

    Sacirovi?, Selim; Asotic, Jasminka; Maksimovic, Radmila; Radevic, Borislav; Muric, Benin; Mekic, Hasim; Biocanin, Rade

    2013-01-01

    Conflict of interest: none declared. Introduction Anemia is a blood disorder characterized by abnormally low levels of healthy red blood cells or reduced hemoglobin, the iron-bearing protein in red blood cells that delivers oxygen to tissues throughout the body. The most common symptoms of this disorder are fatigue, weakness and, in extreme cases, shortness of breath or palpitations, or you may have no symptoms at all. Sports anemia is a term loosely applied to a least three different conditions: hemodilution, iron deficiency anemia and foot-strike anemia. Not exclusive to athletes, iron deficiency anemia occurs most often among women who may lose more iron each month when they menstruate than they take in. Material and Methods Therefore, we examined its effect on the physical condition of female athletes. Several years (since 2010th until 2012th), we studied how anemia among girls (pioneers, juniors and seniors categories) that are involved in sports (women’s soccer, volleyball and handball) in Rasina’s district (Serbia), affecting their physical fitness. When their trainers approach to us, complaining that they have players who are great, so extraordinary talents, but by no means able to withstand more than twenty minutes in the game, we suggest them to perform laboratory tests. It was tested 134th female athletes. Results and Discussion Anemia was observed in 43. (9. pioneers, 19. juniors and 15. seniors). So, laboratory results showed that in these girls anemia causes poor sport condition. After that, the girls enhanced nutrition. Their diet consisted of iron supplements and vitamins. Altitude training was organized for them, also. After all these treatments, condition significantly improved. It was first time that trainers in Rasina’s district realizing significance of laboratory tests. PMID:24082840

  13. Anemia and blood transfusion: Prognostic implications in patients undergoing contemporary percutaneous coronary intervention

    Microsoft Academic Search

    Mauro Moscucci

    2009-01-01

    Several studies have shown a direct relationship between anemia and adverse outcomes in the general patient population undergoing\\u000a surgical cardiac and noncardiac procedures and in patients with heart failure and acute coronary syndromes. More recently,\\u000a anemia has emerged as an important independent risk factor for adverse acute and long-term outcomes in patients undergoing\\u000a contemporary percutaneous coronary intervention (PCI). Complicating the

  14. Hemolytic Anemia as a Presenting Feature of Wilson's Disease: A Case Report.

    PubMed

    Sharma, Sunita; Toppo, Anupa; Rath, B; Harbhajanka, Aparna; Lalita Jyotsna, P

    2010-09-01

    Wilson's disease is a rare inherited disorder of copper metabolism causing severe damage to vital organs. Liver and brain disorders are the main manifestations. Severe hemolytic anemia is an unusual complication of Wilson's disease. We present a case who developed spherocytic acute hemolytic anemia (Coomb's negative) as the initial manifestation of Wilson's disease. On examination Kayser- Fleischer ring was found. Laboratory data supported a diagnosis of Wilson's disease. PMID:21886393

  15. Hemolytic Anemia as a Presenting Feature of Wilson’s Disease: A Case Report

    PubMed Central

    Toppo, Anupa; Rath, B.; Harbhajanka, Aparna; Lalita Jyotsna, P.

    2010-01-01

    Wilson’s disease is a rare inherited disorder of copper metabolism causing severe damage to vital organs. Liver and brain disorders are the main manifestations. Severe hemolytic anemia is an unusual complication of Wilson’s disease. We present a case who developed spherocytic acute hemolytic anemia (Coomb’s negative) as the initial manifestation of Wilson’s disease. On examination Kayser- Fleischer ring was found. Laboratory data supported a diagnosis of Wilson’s disease. PMID:21886393

  16. Management of Iron-Deficiency Anemia in Inflammatory Bowel Disease: A Systematic Review.

    PubMed

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

    2015-06-01

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

  17. Plasma levels of tocopherol in sickle cell anemia subjects1'2

    Microsoft Academic Search

    Clayton Natta; Lawrence Machlin

    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

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

    Microsoft Academic Search

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

    1998-01-01

    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

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

    Microsoft Academic Search

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

    1997-01-01

    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

  20. Effect of Lactoferrin on Consequences of Acute Experimental Hemorrhagic Anemia in Rats

    Microsoft Academic Search

    M. O. Pulina; A. V. Sokolov; E. T. Zakharova; V. A. Kostevich; V. B. Vasilyev

    2010-01-01

    The effect of human lactoferrin on the arrest of experimental hemorrhagic anemia consequences was studied in rats. After six\\u000a blood losses (days 1-4 and 7-8 of the experiment), the rats developed acute anemia: hemoglobin concentration decreased to\\u000a 59% of the initial level, serum iron level decreased 3-fold. Intraperitoneal injections of lactoferrin (10 mg\\/day) for 4 days\\u000a starting from day 7

  1. Sinusoidal heart rate pattern and fetal distress secondary to severe anemia.

    PubMed

    Backes, C; Cordero, L; Warner, R; O'Shaughnessy, R

    1980-04-01

    A case of sinusoidal fetal heart rate (FHR) pattern with fetal anemia is described. The etiology of the pattern appears to have been fetal anemia from an umbilical cord knot, abruptio placentae and fetal asphyxia. The poor neonatal outcome in our case and a review of the literature suggest that a sinusoidal pattern is an ominous sign demanding complete evaluation of fetal well-being and often prompt obstetric intervention. The use of scalp capillary hematocrit is suggested. PMID:7373600

  2. Infection and inflammation in patients on dialysis: an underlying contributor to anemia and epoetin alfa hyporesponse.

    PubMed

    Breiterman-White, Randee

    2006-01-01

    Acute or chronic infections or inflammatory conditions can exacerbate anemia in patients on dialysis. The primary goal is to identify and treat the underlying disorder, while minimizing the impact on hemoglobin (Hb) levels. Nurses can be instrumental in minimizing the impact of these conditions by monitoring the longitudinal trends in Hb levels, proactively assessing patients for inflammatory or infectious conditions, and intervening to resolve causative conditions and minimize the impact on anemia. PMID:16859203

  3. C-reactive protein and anemia: implications for patients on dialysis.

    PubMed

    Breiterman-White, Randee

    2006-01-01

    C-reactive protein (CRP) is an acute-phase reactant protein that increases significantly in the presence of intercurrent (concurrent) events such as infectious and inflammatory processes. Data indicate that CRP levels correlate with anemia parameters, higher levels being associated with an increased comorbidity burden, lower hemoglobin (Hb) levels, and higher Epoetin alfa dose requirements. This article explores the use of CRP monitoring in patients on dialysis, and the relationship to anemia outcomes. PMID:17044439

  4. Proteasome Function Is Required for DNA Damage Response and Fanconi Anemia Pathway Activation

    Microsoft Academic Search

    Celine Jacquemont; Toshiyasu Taniguchi

    2007-01-01

    Proteasome inhibitors sensitize tumor cells to DNA-damaging agents, including ionizing radiation (IR), and DNA cross- linking agents (melphalan and cisplatin) through unknown mechanisms. The Fanconi anemia pathway is a DNA damage- activated signaling pathway, which regulates cellular resis- tance to DNA cross-linking agents. Monoubiquitination and nuclear foci formation of FANCD2 are critical steps of the Fanconi anemia pathway. Here, we

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

    E-print Network

    Folks, Thomas Murill

    1972-01-01

    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...

  6. Anemia management and outcomes from 12 countries in the dialysis outcomes and practice patterns study (DOPPS)

    Microsoft Academic Search

    Ronald L Pisoni; Jennifer L Bragg-Gresham; Eric W Young; Tadao Akizawa; Yasushi Asano; Francesco Locatelli; Juergen Bommer; Jose Miguel Cruz; Peter G Kerr; David C Mendelssohn; Philip J Held; Friedrich K Port

    2004-01-01

    Background:Anemia is common in hemodialysis (HD) patients. Methods:Data collected from nationally representative samples of HD patients (n = 11,041) in 2002 to 2003 were used to describe current anemia management for long-term HD patients at 309 dialysis units in 12 countries. Analyses of associations and outcomes were adjusted for demographics, 15 comorbid classes, laboratory values, country, and facility clustering. Results:For

  7. Sideroblastic anemia as a preleukemic event in patients treated for Hodgkin's disease

    SciTech Connect

    Kitahara, M.; Cosgriff, T.M.; Eyre, H.J.

    1980-05-01

    Sideroblastic anemia after treatment for Hodgkin's disease was seen in two patients 3 years after completion of radiation therapy and chemotherapy. This was followed in both by the development of myelomonoblastic leukemia. No evidence of recurrent Hodgkin's disease was present in either patient. Our observation suggests that development of sideroblastic anemia in patients previously treated for Hodgkin's disease is probably secondary to the treatment and is a preleukemic event.

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

    SciTech Connect

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

    1984-10-01

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

  9. Excessive zinc ingestion: A reversible cause of sideroblastic anemia and bone marrow depression

    SciTech Connect

    Broun, E.R.; Greist, A.; Tricot, G.; Hoffman, R. (Indiana Univ. School of Medicine, Indianapolis (USA))

    1990-09-19

    Two patients with sideroblastic anemia secondary to zinc-induced copper deficiency absorbed excess zinc secondary to oral ingestion. The source of excess zinc was a zinc supplement in one case; in the other, ingested coins. In each case, the sideroblastic anemia was corrected promptly after removal of the source of excess zinc. These two cases emphasize the importance of recognizing this clinical entity, since the myelodysplastic features are completely reversible.

  10. Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients.

    PubMed

    Kutler, David I; Wreesmann, Volkert B; Goberdhan, Andy; Ben-Porat, Leah; Satagopan, Jaya; Ngai, Ivan; Huvos, Andrew G; Giampietro, Philip; Levran, Orna; Pujara, Kanan; Diotti, Rafaella; Carlson, Diane; Huryn, Laryssa A; Auerbach, Arleen D; Singh, Bhuvanesh

    2003-11-19

    Fanconi anemia is an autosomal recessive disorder characterized by congenital malformations, bone marrow failure, and the development of squamous cell carcinomas (SCCs) and other cancers. Recent clinicopathologic evidence has raised the possibility that an environmental factor such as human papillomavirus (HPV) may be involved in the pathogenesis of SCCs in Fanconi anemia patients. Given the high prevalence of p53 mutations in SCCs among the general population and the lack of p53 mutations in HPV-related carcinogenesis, we evaluated the role of HPV and p53 mutations and polymorphisms in SCC from Fanconi anemia patients. We used polymerase chain reaction (PCR) screening and real-time PCR to detect and quantify HPV DNA in DNA extracted from microdissected SCCs obtained from 24 Fanconi anemia patients (n = 25 SCCs; case subjects) and 50 age-, sex-, and tumor site-matched SCC patients without Fanconi anemia (n = 50 SCCs; control subjects). We PCR-amplified and sequenced exons 4-9 of the p53 gene from SCC DNA. We detected HPV DNA in 84% of the SCC specimens from the case subjects and in 36% of the SCC specimens from the control subjects (P<.001). The prevalence of p53 mutations in SCCs from the case subjects (0%, 0/25) was statistically significantly lower than that of SCCs from the control subjects (36%, 12/33; P<.001). A greater proportion of patients with Fanconi anemia and SCC were homozygous for Arg72, a p53 polymorphism that may be associated with increased risk for HPV-associated human malignancies, than an ethnically-matched cohort of Fanconi anemia patients without SCC (75% versus 51%; P =.05). These data suggest that Fanconi anemia is associated with increased susceptibility to HPV-induced carcinogenesis. PMID:14625263

  11. Anemia attributed to vitamin B6 deficiency in post-pancreaticoduodenectomy patients.

    PubMed

    Yasuda, Hajime; Fujiwara, Noriko; Ishizaki, Yoichi; Komatsu, Norio

    2015-01-01

    Micronutrient deficiencies such as vitamin A, iron, zinc, and selenium have been known to occur as a consequence of pancreaticoduodenectomy (PD), but vitamin B6 deficiency has not been previously reported. We report two post-PD patients who developed anemias attributed to vitamin B6 deficiency. Oral supplementations of vitamin B6 significantly improved anemias in both cases. Micronutrients including vitamin B6 should be monitored in post-PD patients, and supplementations should be carried out when necessary. PMID:25543166

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

    E-print Network

    Moreman, David Eugene

    1968-01-01

    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...

  13. Documentation of anemia management interventions. Case study of the anemic patient.

    PubMed

    Kammerer, J

    2000-08-01

    Documentation is an integral part of good anemia management. In addition to relaying vital clinical information, documentation demonstrates how nurses and other medical professionals are striving to achieve the standards of care mandated by law, their profession, third party payers, and individual health care providers. Proper documentation of anemia management practices should include a written chronological history of the rationales, plans, interventions, and evaluations initiated to achieve patient-specific Hb/Hct target levels across the spectrum of care. PMID:11276631

  14. [Hookworm discovered in a patient presenting with severe iron-deficiency anemia].

    PubMed

    Basset, D; Rullier, P; Segalas, F; Sasso, M

    2010-04-01

    The purpose of this report is to describe a case involving severe anemia in a patient from New Caledonia. Endoscopic discovery of adult hematophagic hookworms in mainland France is novel because it is exceptional. However, this case also reminds us that hookworm disease is extremely widespread in the world. It often goes unrecognized causing progressive, insidious anemia that can be severe though long-term tolerance is good. PMID:20486365

  15. Contribution of malnutrition and malaria to anemia in children in rural communities of Edo state, Nigeria

    PubMed Central

    Osazuwa, Favour; Ayo, Oguntade Michael

    2010-01-01

    Background: The most common cause of anemia is an iron deficiency; however, the condition may also be caused by deficiencies in folate, vitamin B12 and protein. Some anemia is not caused by nutritional factors, but by congenital factors and parasitic diseases such as malaria. Aim: This study attempted to estimate the prevalence of anemia among children in three rural communities of the Ovia North East Local government area, and to determine whether its cause was nutritional or could be attributed to malaria. Patients and Methods: A total of 316 children between the ages of 1 and 15 years were included in the study. Children were examined for malaria parasites by microscopy. The World Health Organization (WHO) age-adjusted cut-off for hemoglobin was used to classify anemia. Results: 38.6% of the children were anemic, with hemoglobin levels lower than 11g/dL, although parasite prevalence and density were low. Malnutrition was patent; 37.0% of the children were stunted, 19.3% wasted and 44.0% underweight. Serum ferritin was more sensitive than hemoglobin concentration in detecting anemic children. Anemia was also significantly higher in the Evbuomore village school than in the Ekosodin and Isiohor villages (P<0.001). Conclusion: Anemia detected in this population may be due more to malnutrition than to malaria. PMID:22558561

  16. Molecular profiling of anemia in acute renal allograft rejection using DNA microarrays.

    PubMed

    Chua, Mei-Sze; Barry, Christopher; Chen, Xin; Salvatierra, Oscar; Sarwal, Minnie M

    2003-01-01

    Compromised renal function after renal allograft transplantation often results in anemia in the recipient. Molecular mechanisms leading to anemia during acute rejection are not fully understood; inadequate erythropoietin production and iron deficiency have been reported to be the main contributors. To increase our understanding of the molecular events underlying anemia in acute rejection, we analyzed the gene expression profiles of peripheral blood lymphocytes (PBL) from four pediatric renal allograft recipients with acute rejection and concurrent anemia, using DNA microarrays containing 9000 human cDNA clones (representing 7469 unique genes). In these anemic rejecting patients, an 'erythropoiesis cluster' of 11 down-regulated genes was identified, involved in hemoglobin transcription and synthesis, iron and folate binding and transport. Additionally, some alloimmune response genes were simultaneously down-regulated. An independent data set of 36 PBL samples, some with acute rejection and some with concurrence of acute rejection and anemia, were analyzed to support a possible association between acute rejection and anemia. In conclusion, analysis using DNA microarrays has identified a cluster of genes related to hemoglobin synthesis and/or erythropoeisis that was altered in kidneys with renal allograft rejection compared with normal kidneys. The possible relationship between alterations in the expression of this cluster, reduced renal function, the alloimmune process itself, and other influences on the renal transplant awaits further analysis. PMID:12492705

  17. The kinetics of hematopoiesis in the light horse III. The hematological response to hemolytic anemia.

    PubMed Central

    Lumsden, H J; Valli, V E; McSherry, B J; Robinson, G A; Claxton, M J

    1975-01-01

    The hematological response to acetylphenylhydrazine hemolytic anemia was studied in three standardbred horses. The lifespan of erythrocytes produced during the most severe phase of the anemia were measured with 75-selenomethionine and found to be 144 days as compared to the 139 day lifespan in response to hemorrhagic anemia or 155 days in normal standardbred horses measured previously using the same technique. The erythrocyte counts returned to initial values in 42 days (37, 34 and 54 days) a mean erythrocyte production of 6.4 times 10-12 erythrocytes/day. The mean hemoglobin production was 0.31 gm/kg body weight/day as compared to 0.11 gm Hb/kg/day previously observed in response to hemorrhagic anemia. The mean increase in erythrocyte mean cell volume was 12 mu-3 during the acute response phase to hemolytic anemia in contrast to the absence of a significant increase in the mean cell volume as previously observed during response to hemorrhagic anemia. Free Heinz bodies separated from erythrocytes during the acute phase could not be differentiated from platelets on the hemocytometer counting chamber with standard techniques. PMID:1139414

  18. Aplastic anemia as a feature of systemic lupus erythematosus: a case report and literature review.

    PubMed

    Chalayer, Émilie; Ffrench, Martine; Cathébras, Pascal

    2015-06-01

    Peripheral cytopenias are common in systemic lupus erythematosus, but bone marrow involvement is rarely reported. Aplastic anemia is the result of immune-mediated destruction of hematopoietic stem cells causing pancytopenia and characterized by an empty bone marrow. This rare but serious disease has been described as an unusual manifestation of systemic lupus erythematosus. We reviewed the 25 cases published in the English language literature and discuss the clinical presentation, outcome, treatment, and pathophysiology of aplastic anemia as a complication of systemic lupus erythematosus. We report here the first case of aplastic anemia associated with systemic lupus erythematosus treated with an allogeneic hematopoietic stem cell transplant. Over one half of patients received concomitantly the diagnoses of systemic lupus erythematosus and aplastic anemia. No clinical or histological features can distinguish primary aplastic anemia from aplastic anemia occurring in systemic lupus erythematosus patients. The overall mortality is about 15 % and corticosteroid-based therapy alone or in combination with other immunomodulatory drugs can restore bone marrow function. Systemic lupus erythematosus may be complicated by bone marrow involvement. The diagnosis of peripheral cytopenias should be confirmed by bone marrow aspiration. All these patients should receive cortisone as a first treatment. Plasma exchanges seem to have some efficacy. Other different immunomodulatory therapies were used with variable results. PMID:25354463

  19. Solid lipid nanoparticles loaded with iron to overcome barriers for treatment of iron deficiency anemia

    PubMed Central

    Hosny, Khaled Mohamed; Banjar, Zainy Mohammed; Hariri, Amani H; Hassan, Ali Habiballah

    2015-01-01

    According to the World Health Organization, 46% of the world’s children suffer from anemia, which is usually treated with iron supplements such as ferrous sulfate. The aim of this study was to prepare iron as solid lipid nanoparticles, in order to find an innovative way for alleviating the disadvantages associated with commercially available tablets. These limitations include adverse effects on the digestive system resulting in constipation and blood in the stool. The second drawback is the high variability in the absorption of iron and thus in its bioavailability. Iron solid lipid nanoparticles (Fe-SLNs) were prepared by hot homogenization/ultrasonication. Solubility of ferrous sulfate in different solid lipids was measured, and effects of process variables such as the surfactant type and concentration, homogenization and ultrasonication times, and charge-inducing agent on the particle size, zeta potential, and encapsulation efficiency were determined. Furthermore, in vitro drug release and in vivo pharmacokinetics were studied in rabbits. Results indicated that Fe-SLNs consisted of 3% Compritol 888 ATO, 1% Lecithin, 3% Poloxamer 188, and 0.2% dicetylphosphate, with an average particle size of 25 nm with 92.3% entrapment efficiency. In vivo pharmacokinetic study revealed more than fourfold enhanced bioavailability. In conclusion, Fe-SLNs could be a promising carrier for iron with enhanced oral bioavailability. PMID:25609917

  20. Mutational analysis of the equine infectious anemia virus Tat-responsive element.

    PubMed Central

    Carvalho, M; Derse, D

    1991-01-01

    A hairpinlike structure is predicted to exist at the 5' end of equine infectious anemia virus (EIAV) RNA which is similar in many ways to the human immunodeficiency type 1 (HIV-1) Tat-responsive element (TAR). In EIAV, this structure has a shorter stem than in HIV-1 and lacks the uridine bulge. Primer extension analysis of EIAV RNA was used to identify the transcriptional start site in the viral long terminal repeat. Premature termination of primer elongation at the predicted double-stranded RNA region was frequently observed and suggests that the inferred hairpin structure exists under these conditions. We have functionally characterized EIAV TAR by site-directed mutagenesis and transient gene expression analysis. It is demonstrated here that the secondary structure of this element is essential for Tat action. Mutations that disrupted base pairing abolished TAR function, and compensatory mutations that restored the stem structure resulted in Tat activation. The TAR loop appears to be closed by two U.G base pairs that are likely to provide a unique structural motif recognized by the Tat protein. With one exception, substitutions of nucleotides within the EIAV loop sequence decreased TAR function. All nucleotide substitutions of the cytidine at position +14 increased EIAV Tat responsiveness; however, its deletion abolished trans activation. Our results lead us to propose that the EIAV and HIV-1 Tat systems employ closely related cis- and trans-acting components that probably act by the same mechanism. Images PMID:1645778

  1. MxA overexpression reveals a common genetic link in four Fanconi anemia complementation groups.

    PubMed Central

    Li, Y; Youssoufian, H

    1997-01-01

    Fanconi anemia (FA) consists of a group of at least five autosomal recessive disorders that share both clinical (e.g., birth defects and hematopoietic failure) and cellular (e.g., sensitivity to cross-linking agents and predisposition to apoptosis) features with each other. However, a common pathogenetic link among these groups has not been established. To identify genetic pathways that are altered in FA and characterize shared molecular defects, we used mRNA differential display to isolate genes that have altered expression patterns in FA cells. Here, we report that the expression of an interferon-inducible gene, MxA, is highly upregulated in cells of FA complementation groups A, B, C, and D, but it is suppressed in FA group C cells complemented with wild-type FAC cDNA as well as in non-FA cells. A posttranscriptional mechanism rather than transcriptional induction appears to account for MxA overexpression. Forced expression of MxA in Hep3B cells enhances their sensitivity to mitomycin C and induces apoptosis, similar to the FA phenotype. Thus, MxA is a downstream target of FAC and is the first genetic marker to be identified among multiple FA complementation groups. These data suggest that FA subtypes converge onto a final common pathway, which is intimately related to the interferon signaling mechanism. Constitutive activity of this pathway may explain a number of the phenotypic features of FA, particularly the pathogenesis of bone marrow failure. PMID:9389754

  2. Glucose metabolism in the Belgrade rat, a model of iron-loading anemia.

    PubMed

    Jia, Xuming; Kim, Jonghan; Veuthey, Tania; Lee, Chih-Hao; Wessling-Resnick, Marianne

    2013-06-15

    The iron-diabetes hypothesis proposes an association between iron overload and glucose metabolism that is supported by a number of epidemiological studies. The prevalence of type 2 diabetes in patients with hereditary hemochromatosis and iron-loading thalassemia supports this hypothesis. The Belgrade rat carries a mutation in the iron transporter divalent metal transporter 1 (DMT1) resulting in iron-loading anemia. In this study, we characterized the glycometabolic status of the Belgrade rat. Belgrade rats displayed normal glycemic control. Insulin signaling and secretion were not impaired, and pancreatic tissue did not incur damage despite high levels of nonheme iron. These findings suggest that loss of DMT1 protects against oxidative damage to the pancreas and helps to maintain insulin sensitivity despite iron overload. Belgrade rats had lower body weight but increased food consumption compared with heterozygous littermates. The unexpected energy balance was associated with increased urinary glucose output. Increased urinary excretion of electrolytes, including iron, was also observed. Histopathological evidence suggests that altered renal function is secondary to changes in kidney morphology, including glomerulosclerosis. Thus, loss of DMT1 appears to protect the pancreas from injury but damages the integrity of kidney structure and function. PMID:23599042

  3. Effect of race on outcomes after allogeneic hematopoietic cell transplantation for severe aplastic anemia.

    PubMed

    Eckrich, Michael J; Ahn, Kwang-Woo; Champlin, Richard E; Coccia, Peter; Godder, Kamar; Horan, John; Margolis, David; Deeg, H Joachim; Eapen, Mary

    2014-02-01

    We compared outcomes after hematopoietic cell transplantation in patients of African American (n = 84) and Caucasian (n = 215) descent with severe aplastic anemia. African Americans and Caucasians were matched for age, donor-recipient human leukocyte antigen match, graft type, and transplantation year. The median follow-up of surviving patients was 5 years. In multivariate analysis, overall mortality risks were higher for African Americans compared to Caucasians (relative risk 1.73, P = 0.01). The 5-year probabilities of overall survival adjusted for interval from diagnosis to transplantation, and performance score was 58% for African Americans and 73% for Caucasians. The day-100 cumulative incidence of grade III-IV, but not grade II-IV acute graft-versus-host disease (GVHD), was higher in African Americans compared to Caucasians (29% vs. 13%, P = 0.006). Although the 5-year cumulative incidence of chronic GVHD was not significantly different between the racial groups, African Americans were more likely to have extensive chronic GVHD compared to Caucasians (72% vs. 49%, P = 0.06). Survival differences between Caucasians and African Americans can be attributed to multiple factors. Our data suggest that some of the observed survival differences between Caucasians and African Americans may be explained by higher rates of acute GVHD and severity of chronic GVHD. PMID:24122901

  4. Evidence for a profound remodeling of skeletal muscle and its microvasculature in sickle cell anemia.

    PubMed

    Ravelojaona, Marion; Féasson, Léonard; Oyono-Enguéllé, Samuel; Vincent, Lucile; Djoubairou, Ben; Ewa'Sama Essoue, Charles; Messonnier, Laurent A

    2015-05-01

    Sickle cell anemia (SCA) is a hemoglobinopathy leading to major hematologic, hemorheologic, and hemodynamic disorders that induce various complications, including organ failure, and ultimately lead to death. Here, we assessed for the first time repercussions of SCA on skeletal muscle and its microvasculature. Twenty-seven sedentary Cameroonian volunteer men participated in the study. They were assigned to one of three groups according to their hemoglobin status (healthy control subjects, n = 10; sickle cell trait carriers, n = 10; and SCA patients, n = 7) and underwent muscle biopsy of the vastus lateralis. SCA was associated with microvessel rarefaction, decrease in capillary tortuosity, and widening of microvessel diameter. The absence of capillary wall reinforcement was shown by lack of wall thickening and lack of fibrous tissue or smooth muscle in their constitution. We also observed changes in fiber type distribution, muscle atrophy, an increase in satellite cell number, and a decrease in activity of creatine kinase and several oxidative enzymes. No signs of tissue necrosis, inflammatory stress, fibrosis, or segmented fibers were observed. The present study highlighted marked effects of SCA on microvascular, structural, and energetic characteristics of skeletal muscle. PMID:25773175

  5. Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases.

    PubMed

    Bakker, Janine L; van Mil, Saskia E; Crossan, Gerry; Sabbaghian, Nelly; De Leeneer, Kim; Poppe, Bruce; Adank, Muriel; Gille, Hans; Verheul, Henk; Meijers-Heijboer, Hanne; de Winter, Johan P; Claes, Kathleen; Tischkowitz, Marc; Waisfisz, Quinten

    2013-01-01

    SLX4/FANCP is a recently discovered novel disease gene for Fanconi anemia (FA), a rare recessive disorder characterized by chromosomal instability and increased cancer susceptibility. Three of the 15 FA genes are breast cancer susceptibility genes in heterozygous mutation carriers--BRCA2, PALB2, and BRIP1. To investigate if defects in SLX4 also predispose to breast cancer, the gene was sequenced in a cohort of 729 BRCA1/BRCA2-negative familial breast cancer cases. We identified a single splice site mutation (c.2013+2T>A), which causes a frameshift by skipping of exon 8. We also identified 39 missense variants, four of which were selected for functional testing in a Mitomycin C-induced growth inhibition assay, and appeared indistinguishable from wild type. Although this is the first study that describes a truncating SLX4 mutation in breast cancer patients, our data indicate that germline mutations in SLX4 are very rare and are unlikely to make a significant contribution to familial breast cancer. PMID:22911665

  6. Allele-specific enzymatic amplification of. beta. -globin genomic DNA for diagnosis of sickle cell anemia

    SciTech Connect

    Wu, D.Y.; Ugozzoli, L.; Pal, B.K.; Wallace, B. (Beckman Research Institute of the City of Hope, Duarte, CA (USA))

    1989-04-01

    A rapid nonradioactive approach to the diagnosis of sickle cell anemia is described based on an allele-specific polymerase chain reaction (ASPCR). This method allows direct detection of the normal or the sickle cell {beta}-globin allele in genomic DNA without additional steps of probe hybridization, ligation, or restriction enzyme cleavage. Two allele-specific oligonucleotide primers, one specific for the sickle cell allele and one specific for the normal allele, together with another primer complementary to both alleles were used in the polymerase chain reaction with genomic DNA templates. The allele-specific primers differed from each other in their terminal 3{prime} nucleotide. Under the proper annealing temperature and polymerase chain reaction conditions, these primers only directed amplification on their complementary allele. In a single blind study of DNA samples from 12 individuals, this method correctly and unambiguously allowed for the determination of the genotypes with no false negatives or positives. If ASPCR is able to discriminate all allelic variation (both transition and transversion mutations), this method has the potential to be a powerful approach for genetic disease diagnosis, carrier screening, HLA typing, human gene mapping, forensics, and paternity testing.

  7. Severe iron overload in Blackfan-Diamond anemia: a case-control study.

    PubMed

    Roggero, Simona; Quarello, Paola; Vinciguerra, Tiziana; Longo, Filomena; Piga, Antonio; Ramenghi, Ugo

    2009-11-01

    Chronic iron overload is a serious complication in transfusion-dependent patients. Few studies have addressed this issue in Diamond-Blackfan anemia (DBA). We describe a retrospective analysis of iron overload, and its related complications in 31 transfusion-dependent Italian DBA patients whose records included one or more evaluation of liver iron concentration (LIC) by means of noninvasive magnetic liver susceptometry with a superconductive quantum interference device (SQUID). This cohort is also matched with a group of transfusion-dependent beta-thalassemia major patients to look for differences. A severe iron overload was observed in 54% patients, especially among those inadequately chelated. The DBA patients displayed a significantly higher LIC than the regularly chelated beta-thalassemics. This difference may have been attributable to nonoptimal chelation (late onset, type, dose, prescription, and compliance), or an unknown biological mechanism that lead to an early severe iron overload. We therefore suggest that all transfusion patients should have an accurate record of their iron intake, a regular monitoring of iron overload, in order to start chelation when a critical transfusion load is reached, and to test the efficacy/compliance of chelation treatment. Physicians taking care of transfusion-dependent DBA patients must be concerned about the frequent and early complications such as cardiac toxicity. Am. J. Hematol., 2009. (c) 2009 Wiley-Liss, Inc. PMID:19810012

  8. Glucose metabolism in the Belgrade rat, a model of iron-loading anemia

    PubMed Central

    Jia, Xuming; Kim, Jonghan; Veuthey, Tania; Lee, Chih-Hao

    2013-01-01

    The iron-diabetes hypothesis proposes an association between iron overload and glucose metabolism that is supported by a number of epidemiological studies. The prevalence of type 2 diabetes in patients with hereditary hemochromatosis and iron-loading thalassemia supports this hypothesis. The Belgrade rat carries a mutation in the iron transporter divalent metal transporter 1 (DMT1) resulting in iron-loading anemia. In this study, we characterized the glycometabolic status of the Belgrade rat. Belgrade rats displayed normal glycemic control. Insulin signaling and secretion were not impaired, and pancreatic tissue did not incur damage despite high levels of nonheme iron. These findings suggest that loss of DMT1 protects against oxidative damage to the pancreas and helps to maintain insulin sensitivity despite iron overload. Belgrade rats had lower body weight but increased food consumption compared with heterozygous littermates. The unexpected energy balance was associated with increased urinary glucose output. Increased urinary excretion of electrolytes, including iron, was also observed. Histopathological evidence suggests that altered renal function is secondary to changes in kidney morphology, including glomerulosclerosis. Thus, loss of DMT1 appears to protect the pancreas from injury but damages the integrity of kidney structure and function. PMID:23599042

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

    PubMed Central

    2011-01-01

    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

  10. Incidence and risk factors of aplastic anemia in Latin American countries: the LATIN case-control study

    PubMed Central

    Maluf, Eliane; Hamerschlak, Nelson; Cavalcanti, Alexandre Biasi; Júnior, Álvaro Avezum; Eluf-Neto, José; Falcăo, Roberto Passetto; Lorand-Metze, Irene G.; Goldenberg, Daniel; Santana, Cézar Leite; de Oliveira Werneck Rodrigues, Daniela; da Motta Passos, Leny Nascimento; Rosenfeld, Luis Gastăo Mange; Pitta, Marimilia; Loggetto, Sandra; Feitosa Ribeiro, Andreza A.; Velloso, Elvira Deolinda; Kondo, Andrea Tiemi; de Miranda Coelho, Erika Oliveira; Pintăo, Maria Carolina Tostes; de Souza, Hélio Moraes; Borbolla, José Rafael; Pasquini, Ricardo

    2009-01-01

    Background Associations between aplastic anemia and numerous drugs, pesticides and chemicals have been reported. However, at least 50% of the etiology of aplastic anemia remains unexplained. Design and Methods This was a case-control, multicenter, multinational study, designed to identify risk factors for agranulocytosis and aplastic anemia. The cases were patients with diagnosis of aplastic anemia confirmed through biopsy or bone marrow aspiration, selected through an active search of clinical laboratories, hematology clinics and medical records. The controls did not have either aplastic anemia or chronic diseases. A total of 224 patients with aplastic anemia were included in the study, each case was paired with four controls, according to sex, age group, and hospital where the case was first seen. Information was collected on demographic data, medical history, laboratory tests, medications, and other potential risk factors prior to diagnosis. Results The incidence of aplastic anemia was 1.6 cases per million per year. Higher rates of benzene exposure (?30 exposures per year) were associated with a greater risk of aplastic anemia (odds ratio, OR: 4.2; 95% confidence interval, CI: 1.82–9.82). Individuals exposed to chloramphenicol in the previous year had an adjusted OR for aplastic anemia of 8.7 (CI: 0.87–87.93) and those exposed to azithromycin had an adjusted OR of 11.02 (CI 1.14–108.02). Conclusions The incidence of aplastic anemia in Latin America countries is low. Although the research study centers had a high coverage of health services, the underreporting of cases of aplastic anemia in selected regions can be discussed. Frequent exposure to benzene-based products increases the risk for aplastic anemia. Few associations with specific drugs were found, and it is likely that some of these were due to chance alone. PMID:19734415

  11. Treating anemia early in renal failure patients slows the decline of renal function: A randomized controlled trial

    Microsoft Academic Search

    CHARICLIA GOUVA; PETROS NIKOLOPOULOS; JOHN P A IOANNIDIS; KOSTAS C SIAMOPOULOS

    2004-01-01

    Treating anemia early in renal failure patients slows the decline of renal function: A randomized controlled trial.BackgroundErythropoietin is known to improve outcomes in patients with anemia from chronic renal disease. However, there is uncertainty about the optimal timing of initiation of erythropoietin treatment in predialysis patients with non-severe anemia.MethodsWe conducted a randomized controlled trial of early versus deferred initiation of

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

    PubMed Central

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

    2015-01-01

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

  13. Insight into the Roles of Helicase Motif Ia by Characterizing Fanconi Anemia Group J Protein (FANCJ) Patient Mutations*

    PubMed Central

    Guo, Manhong; Vidhyasagar, Venkatasubramanian; Ding, Hao; Wu, Yuliang

    2014-01-01

    Helicases are molecular motors that couple the energy of ATP hydrolysis to the unwinding and remodeling of structured DNA or RNA, which is coordinated by conserved helicase motifs. FANCJ is a DNA helicase that is genetically linked to Fanconi anemia, breast cancer, and ovarian cancer. Here, we characterized two Fanconi anemia patient mutations, R251C and Q255H, that are localized in helicase motif Ia. Our genetic complementation analysis revealed that both the R251C and Q255H alleles failed to rescue cisplatin sensitivity of a FANCJ null cell line as detected by cell survival or ?-H2AX foci formation. Furthermore, our biochemical assays demonstrated that both purified recombinant proteins abolished DNA helicase activity and failed to disrupt the DNA-protein complex. Intriguingly, R251C impaired DNA binding ability to single-strand DNA and double-strand DNA, whereas Q255H retained higher binding activity to these DNA substrates compared with wild-type FANCJ protein. Consequently, R251C abolished its DNA-dependent ATP hydrolysis activity, whereas Q255H retained normal ATPase activity. Physically, R251C had reduced ATP binding ability, whereas Q255H had normal ATP binding ability and could translocate on single-strand DNA. Although both proteins were recruited to damage sites in our laser-activated confocal assays, they lost their DNA repair function, which explains why they exerted a domain negative effect when expressed in a wild-type background. Taken together, our work not only reveals the structural function of helicase motif Ia but also provides the molecular pathology of FANCJ in related diseases. PMID:24573678

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

    ClinicalTrials.gov

    2014-12-29

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

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

    ClinicalTrials.gov

    2013-11-21

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

  16. Consumption of arsenic-contaminated drinking water and anemia among pregnant and non-pregnant women in northwestern Romania.

    PubMed

    Surdu, Simona; Bloom, Michael S; Neamtiu, Iulia A; Pop, Cristian; Anastasiu, Doru; Fitzgerald, Edward F; Gurzau, Eugen S

    2015-07-01

    Anemia is a global health problem. To evaluate the impact of low-moderate water arsenic exposure (mostly <10µg/L) on anemia, we conducted a cross-sectional study of 217 Romanian women. The adjusted prevalences for 'any' anemia (prevalence proportion ratio (PPR)=1.71, 95% CI 0.75-3.88) and pregnancy anemia (PPR=2.87, 95% CI 0.62-13.26) were higher among drinking water arsenic exposed women than among unexposed women. These preliminary data underscore the need for a more definitive study in this area. PMID:26073204

  17. Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia

    PubMed Central

    Jaako, Pekka; Debnath, Shubhranshu; Olsson, Karin; Modlich, Ute; Rothe, Michael; Schambach, Axel; Flygare, Johan; Karlsson, Stefan

    2014-01-01

    Diamond-Blackfan anemia is a congenital erythroid hypoplasia caused by functional haploinsufficiency of genes encoding ribosomal proteins. Mutations involving the ribosomal protein S19 gene are detected in 25% of patients. Enforced expression of ribosomal protein S19 improves the overall proliferative capacity, erythroid colony-forming potential and erythroid differentiation of hematopoietic progenitors from ribosomal protein S19-deficient patients in vitro and in vivo following xenotransplantation. However, studies using animal models are needed to assess the therapeutic efficacy and safety of the viral vectors. In the present study we have validated the therapeutic potential of gene therapy using mouse models of ribosomal protein S19-deficient Diamond-Blackfan anemia. Using lentiviral gene transfer we demonstrated that enforced expression of ribosomal protein S19 cures the anemia and lethal bone marrow failure in recipients transplanted with ribosomal protein S19-deficient cells. Furthermore, gene-corrected ribosomal protein S19-deficient cells showed an increased pan-hematopoietic contribution over time compared to untransduced cells without signs of vector-mediated toxicity. Our study provides a proof of principle for the development of clinical gene therapy to cure ribosomal protein 19-deficient Diamond-Blackfan anemia. PMID:25216681

  18. The effects of iron deficiency anemia on p wave duration and dispersion

    PubMed Central

    Simsek, Hakk?; Gunes, Yilmaz; Demir, Cengiz; Sahin, Musa; Gumrukcuoglu, Hasan Ali; Tuncer, Mustafa

    2010-01-01

    OBJECTIVES: The association between P wave dispersion and iron deficiency anemia has not been documented in the literature. In this study, we evaluated P wave dispersion in patients with iron deficiency anemia and the possible relationships between P wave dispersion and other echocardiographic parameters. INTRODUCTION: The iron status of an individual may play an important role in cardiovascular health. Anemia is an independent risk factor for adverse cardiovascular outcomes. P wave dispersion is a simple electrocardiographic marker that has a predictive value for the development of atrial fibrillation. Apart from cardiovascular diseases, several conditions, such as seasonal variation, alcohol intake and caffeine ingestion, have been demonstrated to affect P wave dispersion. METHODS: The study included 97 patients who had iron deficiency anemia and 50 healthy subjects. The cases were evaluated with a clinical examination and diagnostic tests that included 12?lead electrocardiography and transthoracic echocardiography. RESULTS: Compared to the control group, patients with iron deficiency anemia showed significantly longer maximum P wave duration (Pmax) (91.1±18.0 vs. 85.8±6.7 msec, p?=?0.054), P wave dispersion (PWD) (48.1±7.7 vs. 40.9±5.6 msec, p<0.001), mitral inflow deceleration time (DT) (197.5±27.9 vs. 178.8±8.9 msec, p<0.001) and isovolumetric relaxation time (IVRT) (93.3±9.2 vs. 77.4±8.2 msec, p<0.001); they also showed increased heart rate (85.7±16.1 vs. 69.0±4.4, p<0.001) and frequency of diastolic dysfunction (7 (7.2%) vs. 0). Correlation analysis revealed that PWD was significantly correlated with IVRT, DT, heart rate, the presence of anemia and hemoglobin level. CONCLUSIONS: Iron deficiency anemia may be associated with prolonged P wave duration and dispersion and impaired diastolic left ventricular filling. PMID:21243273

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

    PubMed Central

    Abrishami, F; Golshan, A

    2013-01-01

    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

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

    PubMed Central

    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.

    2014-01-01

    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

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

    PubMed Central

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

    2012-01-01

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

  2. Developmental Function in Toddlers With Sickle Cell Anemia

    PubMed Central

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

    2013-01-01

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

  3. Neuroimaging abnormalities in adults with sickle cell anemia

    PubMed Central

    Insel, Philip; Truran, Diana; Vichinsky, Elliot P.; Neumayr, Lynne D.; Armstrong, F.D.; Gold, Jeffrey I.; Kesler, Karen; Brewer, Joseph; Weiner, Michael W.

    2014-01-01

    Objective: This study was conducted to determine the relationship of frontal lobe cortical thickness and basal ganglia volumes to measures of cognition in adults with sickle cell anemia (SCA). Methods: Participants included 120 adults with SCA with no history of neurologic dysfunction and 33 healthy controls (HCs). Participants were enrolled at 12 medical center sites, and raters were blinded to diagnostic group. We hypothesized that individuals with SCA would exhibit reductions in frontal lobe cortex thickness and reduced basal ganglia and thalamus volumes compared with HCs and that these structural brain abnormalities would be associated with measures of cognitive functioning (Wechsler Adult Intelligence Scale, 3rd edition). Results: After adjusting for age, sex, education level, and intracranial volume, participants with SCA exhibited thinner frontal lobe cortex (t = ?2.99, p = 0.003) and reduced basal ganglia and thalamus volumes compared with HCs (t = ?3.95, p < 0.001). Reduced volume of the basal ganglia and thalamus was significantly associated with lower Performance IQ (model estimate = 3.75, p = 0.004) as well as lower Perceptual Organization (model estimate = 1.44, p = 0.007) and Working Memory scores (model estimate = 1.37, p = 0.015). Frontal lobe cortex thickness was not significantly associated with any cognitive measures. Conclusions: Our findings suggest that basal ganglia and thalamus abnormalities may represent a particularly salient contributor to cognitive dysfunction in adults with SCA. PMID:24523480

  4. Viral DNA in horses infected with equine infectious anemia virus.

    PubMed Central

    Rice, N R; Lequarre, A S; Casey, J W; Lahn, S; Stephens, R M; Edwards, J

    1989-01-01

    The amount and distribution of viral DNA were established in a horse acutely infected with the Wyoming strain of equine infectious anemia virus (EIAV). The highest concentration of viral DNA were found in the liver, lymph nodes, bone marrow, and spleen. The kidney, choroid plexus, and peripheral blood leukocytes also contained viral DNA, but at a lower level. It is estimated that at day 16 postinoculation, almost all of the viral DNA was located in the tissues, with the liver alone containing about 90 times more EIAV DNA than the peripheral blood leukocytes did. Assuming a monocyte-macrophage target, each infected cell contained multiple copies of viral DNA (between 6 and 60 copies in liver Kupffer cells). At day 16 postinoculation, most of the EIAV DNA was not integrated into host DNA, but existed in both linear and circular unintegrated forms. In contrast to acute infection, viral DNA was not detectable in tissues from asymptomatic horses with circulating antibody to EIAV. Images PMID:2555550

  5. Iron Deficiency Anemia and Affective Response in Rhesus Monkey Infants

    PubMed Central

    Golub, Mari S.; Hogrefe, Casey E.; Capitanio, John P.; Widaman, Keith F.

    2012-01-01

    Infant iron deficiency anemia (IDA) occurs spontaneously in monkey populations as it does in humans, providing a model for understanding effects on brain and behavior. A set of 34 monkey infants identified as IDA (hemoglobin <11 g/dL) over a 5-year period at the California National Primate Research Center (CNPRC) was compared to a set of 57 controls (hemoglobin >12 g/dL) matched for age and caging location. The infants had participated in a Biobehavioral Assessment conducted at 3–4 months of age at CNPRC that included measures of behavioral and adrenocortical response to a novel environment. IDA males differed from control males in two factors (“activity”, “emotionality”) derived from observational data taken on the first and second day of the exposure to the novel environment. In the male infants, IDA was associated with less restriction of activity in the novel environment on both days and less emotionality on the second day (p<.05). IDA males also displayed less response to approach by a human (human intruder test) than did control males. IDA females did not differ from controls. Adrenocortical response was not significantly affected. These findings may be relevant to functional deficits in human infants with IDA that influence later behavior. PMID:18814183

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

    PubMed

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

    2014-10-01

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

  7. BAFF level increased in patients with autoimmune hemolytic anemia

    PubMed Central

    Zhao, Yu-Bing; Li, Jun-Min; Wei, Bei-Wen; Xu, Zi-Zhen

    2015-01-01

    Introduction: BAFF (B-cell activating factor of the TNF family), an important regulator of B-cell, has been observed to be over-expressed in a variety of autoimmune diseases. Autoimmune hemolytic anemia (AIHA) is an acquired autoimmune disease occurred when antibodies directed against autologous red blood cells. We assessed serum levels of BAFF in AIHA patients with different serological characteristics. Methods: Serum BAFF levels were measured in 44 AIHA patients with different direct antiglobulin test (DAT) results and 25 healthy controls. The correlation of BAFF expression with DAT results and serological characteristics was assessed. Results: Serum levels of BAFF in AIHA patients were significantly higher than in healthy subjects (AIHA: 1382.7 ± 1412.8 pg/ml, healthy control: 725.0 ± 415.7 pg/ml, P = 0.0057). Serum BAFF levels were significantly higher in patients with IgG(+)C3(+) or IgG(+) than healthy controls (DAT: negative) (P = 0.012, 0.004, respectively). No significant correlations were presented between serum BAFF levels and four serological parameters: hemoglobine, percentage of reticulocyte, total serum bilirubin, and lactate dehydrogenase. Conclusions: AIHA patients present higher serum BAFF levels than healthy controls, especially for those of IgG(+)C3(+) DAT result. This might lead to a new approach of AIHA treatment.

  8. Mechanism of vaso-occlusion in sickle cell anemia

    NASA Astrophysics Data System (ADS)

    Lei, Huan; Karniadakis, George

    2012-11-01

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

  9. The fanconi anemia pathway limits human papillomavirus replication.

    PubMed

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

    2012-08-01

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

  10. Modularized functions of the Fanconi anemia core complex.

    PubMed

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

    2014-06-26

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

  11. Dysregulated Ca2+ homeostasis in Fanconi anemia cells.

    PubMed

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

    2015-01-01

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

  12. Pathogenesis of the Erythroid Failure in Diamond Blackfan Anemia

    PubMed Central

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

    2010-01-01

    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

  13. RPS19 mutations in patients with Diamond-Blackfan anemia.

    PubMed

    Campagnoli, Maria Francesca; Ramenghi, Ugo; Armiraglio, Marta; Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Avondo, Federica; Pavesi, Elisa; Fribourg, Sébastien; Gleizes, Pierre-Emmanuel; Loreni, Fabrizio; Dianzani, Irma

    2008-07-01

    Diamond-Blackfan anemia (DBA) is an inherited disease characterized by pure erythroid aplasia. Thirty percent (30%) of patients display malformations, especially of the hands, face, heart, and urogenital tract. DBA has an autosomal dominant pattern of inheritance. De novo mutations are common and familial cases display wide clinical heterogeneity. Twenty-five percent (25%) of patients carry a mutation in the ribosomal protein (RP) S19 gene, whereas mutations in RPS24, RPS17, RPL35A, RPL11, and RPL5 are rare. These genes encode for structural proteins of the ribosome. A link between ribosomal functions and erythroid aplasia is apparent in DBA, but its etiology is not clear. Most authors agree that a defect in protein synthesis in a rapidly proliferating tissue, such as the erythroid bone marrow, may explain the defective erythropoiesis. A total of 77 RPS19 mutations have been described. Most are whole gene deletions, translocations, or truncating mutations (nonsense or frameshift), suggesting that haploinsufficiency is the basis of DBA pathology. A total of 22 missense mutations have also been described and several works have provided in vitro functional data for the mutant proteins. This review looks at the data on all these mutations, proposes a functional classification, and describes six new mutations. It is shown that patients with RPS19 mutations display a poorer response to steroids and a worse long-term prognosis compared to other DBA patients. PMID:18412286

  14. Alternative donor hematopoietic cell transplantation for Fanconi anemia.

    PubMed

    MacMillan, Margaret L; DeFor, Todd E; Young, Jo-Anne H; Dusenbery, Kathryn E; Blazar, Bruce R; Slungaard, Arne; Zierhut, Heather; Weisdorf, Daniel J; Wagner, John E

    2015-06-11

    Historically, alternative donor hematopoietic cell transplantation (HCT) for Fanconi anemia (FA) patients resulted in excessive morbidity and mortality. To improve outcomes, we made sequential changes to the HCT conditioning regimen. A total of 130 FA patients (median age, 9.0 years; range, 1-48) underwent alternative donor HCT at the University of Minnesota between 1995 and 2012. All patients received cyclophosphamide (CY), single fraction total body irradiation (TBI), and antithymocyte globulin (ATG) with or without fludarabine (FLU), followed by T-cell-depleted bone marrow or unmanipulated umbilical cord blood transplantation. The addition of FLU enhanced engraftment 3-fold. The incidence of grades 2-4 acute and chronic graft-versus-host disease was 20% and 10%, respectively. Severe toxicity was highest in patients >10 years of age or those with a history of opportunistic infections or transfusions before HCT. Mortality was lowest in patients without a history of opportunistic infection or transfusions and who received conditioning with TBI 300 cGy, CY, FLU, and ATG. These patients had a probability of survival of 94% at 5 years. Alternative donor HCT is now associated with excellent survival for patients without prior opportunistic infections or transfusions and should be considered for all FA patients after the onset of marrow failure. These studies were registered at http://www.clinicaltrials.gov as NCT00005898, NCT00167206, and NCT00352976. PMID:25824692

  15. Current management of iron deficiency anemia in inflammatory bowel diseases: a practical guide.

    PubMed

    Gomollón, Fernando; Gisbert, Javier P

    2013-11-01

    Anemia and iron deficiency anemia are very common in inflammatory bowel disease (IBD). In most cases, anemia is a consequence of mixed pathogenesis; inflammation and iron deficiency being the most important factors. Iron status should be evaluated carefully, as ferritin is unreliable in the presence of inflammation. It is always necessary to control disease activity; however, supplementation is usually required to fully correct iron deficiencies. Oral iron, intravenous iron, erythropoietin, and blood transfusions can be used in different clinical scenarios. Oral iron may be used in mild cases if the disease has no clinical activity. Intravenous iron should be preferred where oral iron is poorly tolerated or where it has failed in moderate to severe anemia, and in combination with erythropoietin. Iron sucrose is very safe and effective, but not very convenient, as the total needed dose must be divided into several infusions. Ferric carboxymaltose is much more convenient, and has been shown to be more effective than iron sucrose in a large randomized trial. Iron isomaltose shows theoretical promise, but very limited data are available from IBD populations. Blood transfusion can be necessary, especially in acute life-threatening situations, but the trigger for indication should be in the low range. With the correct use of available resources, anemia and iron deficiency should be well controlled in practically all IBD patients. PMID:24114623

  16. Risk Factors for Anemia among Brazilian Infants from the 2006 National Demographic Health Survey

    PubMed Central

    Konstantyner, Tulio; Roma Oliveira, Thais Cláudia; de Aguiar Carrazedo Taddei, José Augusto

    2012-01-01

    Iron deficiency is an important public health problem. An understanding of anemia risk factors is essential to informed health policies. We performed a cross-sectional study of 1,382 infants from the 2006 Brazilian National Survey on Demography and the Health of Women and Children. Mild and moderate anemia was characterised by hemoglobin levels below 11.0 and 9.5?g/dL, respectively. Rates for mild and moderate anemia were 25.9% and 9.9%, respectively. The logistic model included three risk factors for mild anemia—urban residence area (OR = 2.5; P = 0.004), fever in the past 2 weeks (OR = 2.4; P < 0.001), and age less than 12 months (OR = 1.7; P = 0.024). Strategies to control infant anemia should include health promotion and nutritional education for families from all socioeconomic levels. Lifestyle quality improvement based on adequate food consumption must be achieved by communities in all macroregions, and especially in urban areas. PMID:22400108

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

    PubMed Central

    2012-01-01

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

  18. Successful Treatment of Severe Anemia using Erythropoietin in a Jehovah Witness with Non-Hodgkin Lymphoma

    PubMed Central

    Agapidou, Alexandra; Vakalopoulou, Sofia; Papadopoulou, Theodosia; Chadjiaggelidou, Christina; Garypidou, Vasileia

    2014-01-01

    Blood transfusion many times works in a life-saving way when a patient is facing a critical situation. However, some patients, such as Jehovah’s Witnesses, may refuse their administration because it opposes to their religion beliefs. Thus, clinicians are forced to respect patients’ preferences and seek other treatments in order to overcome the obstacle of the transfusion. In 1989, recombinant human erythropoietin (rHuEPO) was approved by the United States Food and Drug Administration (FDA) for the treatment of anemia associated with chronic renal failure. This is an amino acid glycol-protein that stimulates red blood cell production in the same manner as endogenous erythropoietin. Other treatment indications approved by the FDA include anemia due to chronic kidney disease, anemia secondary to zidovudine therapy in patients with human immunodeficiency virus infection, and anemia secondary to cancer chemotherapy. The drug also has been used for many off-label indications. Many Jehovah’s Witnesses have accepted rHuEPO as a treatment option to maintain and enhance erythropoiesis. This paper reports the case of a 57-year-old Jehovah’s Witness man, who was diagnosed with severe anemia due to aggressive non Hodgkin lymphoma and refused transfusion of blood; thanks to the treatment with rHuEPO he has managed to complete chemotherapy and has survived a life threatening situation. PMID:25568760

  19. Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients.

    PubMed

    van Zeeburg, Hester J T; Snijders, Peter J F; Wu, Thijs; Gluckman, Eliane; Soulier, Jean; Surralles, Jordi; Castella, Maria; van der Wal, Jacqueline E; Wennerberg, Johan; Califano, Joseph; Velleuer, Eunike; Dietrich, Ralf; Ebell, Wolfram; Bloemena, Elisabeth; Joenje, Hans; Leemans, C René; Brakenhoff, Ruud H

    2008-11-19

    Fanconi anemia is a recessively inherited disease that is characterized by congenital abnormalities, bone marrow failure, and a predisposition to develop cancer, particularly squamous cell carcinomas (SCCs) in the head and neck and anogenital regions. Previous studies of Fanconi anemia SCCs, mainly from US patients, revealed the presence of high-risk human papillomavirus (HPV) DNA in 21 (84%) of 25 tumors analyzed. We examined a panel of 21 SCCs mainly from European Fanconi anemia patients (n = 19 FA patients; 16 head and neck squamous cell carcinomas [HNSCCs], 2 esophageal SCCs, and 3 anogenital SCCs) for their clinical and molecular characteristics, including patterns of allelic loss, TP53 mutations, and the presence of HPV DNA by GP5+/6+ polymerase chain reaction. HPV DNA was detected in only two (10%) of 21 tumors (both anogenital SCCs) but in none of the 16 HNSCCs. Of the 18 tumors analyzed, 10 contained a TP53 mutation. The patterns of allelic loss were comparable to those generally found in sporadic SCCs. Our data show that HPV does not play a major role in squamous cell carcinogenesis in this cohort of Fanconi anemia patients and that the Fanconi anemia SCCs are genetically similar to sporadic SCCs despite having a different etiology. PMID:19001603

  20. Anemia and red blood cell transfusion in critically ill cardiac patients

    PubMed Central

    2014-01-01

    Anemia and red blood cell (RBC) transfusion occur frequently in hospitalized patients with cardiac disease. In this narrative review, we report the epidemiology of anemia and RBC transfusion in hospitalized adults and children (excluding premature neonates) with cardiac disease, and on the outcome of anemic and transfused cardiac patients. Both anemia and RBC transfusion are common in cardiac patients, and both are associated with mortality. RBC transfusion is the only way to rapidly treat severe anemia, but is not completely safe. In addition to hemoglobin (Hb) concentration, the determinant(s) that should drive a practitioner to prescribe a RBC transfusion to cardiac patients are currently unclear. In stable acyanotic cardiac patients, Hb level above 70 g/L in children and above 70 to 80 g/L in adults appears safe. In cyanotic children, Hb level above 90 g/L appears safe. The appropriate threshold Hb level for unstable cardiac patients and for children younger than 28 days is unknown. The optimal transfusion strategy in cardiac patients is not well characterized. The threshold at which the risk of anemia outweighs the risk of transfusion is not known. More studies are needed to determine when RBC transfusion is indicated in hospitalized patients with cardiac disease. PMID:25024880