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Sample records for hereditary hemolytic anaemia

  1. Recommendations regarding splenectomy in hereditary hemolytic anemias.

    Science.gov (United States)

    Iolascon, Achille; Andolfo, Immacolata; Barcellini, Wilma; Corcione, Francesco; Garçon, Loïc; De Franceschi, Lucia; Pignata, Claudio; Graziadei, Giovanna; Pospisilova, Dagmar; Rees, David C; de Montalembert, Mariane; Rivella, Stefano; Gambale, Antonella; Russo, Roberta; Ribeiro, Leticia; Vives-Corrons, Jules; Martinez, Patricia Aguilar; Kattamis, Antonis; Gulbis, Beatrice; Cappellini, Maria Domenica; Roberts, Irene; Tamary, Hannah

    2017-08-01

    Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. In light of the priorities identified by the European Hematology Association Roadmap we generated specific recommendations for each disorder, except thalassemia syndromes for which there are other, recent guidelines. Our recommendations are intended to enable clinicians to achieve better informed decisions on disease management by splenectomy, on the type of splenectomy and the possible consequences. As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. Copyright© 2017 Ferrata Storti Foundation.

  2. Recommendations regarding splenectomy in hereditary hemolytic anemias

    Science.gov (United States)

    Iolascon, Achille; Andolfo, Immacolata; Barcellini, Wilma; Corcione, Francesco; Garçon, Loïc; De Franceschi, Lucia; Pignata, Claudio; Graziadei, Giovanna; Pospisilova, Dagmar; Rees, David C.; de Montalembert, Mariane; Rivella, Stefano; Gambale, Antonella; Russo, Roberta; Ribeiro, Leticia; Vives-Corrons, Jules; Martinez, Patricia Aguilar; Kattamis, Antonis; Gulbis, Beatrice; Cappellini, Maria Domenica; Roberts, Irene; Tamary, Hannah

    2017-01-01

    Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications. In light of the priorities identified by the European Hematology Association Roadmap we generated specific recommendations for each disorder, except thalassemia syndromes for which there are other, recent guidelines. Our recommendations are intended to enable clinicians to achieve better informed decisions on disease management by splenectomy, on the type of splenectomy and the possible consequences. As no randomized clinical trials, case control or cohort studies regarding splenectomy in these disorders were found in the literature, recommendations for each disease were based on expert opinion and were subsequently critically revised and modified by the Splenectomy in Rare Anemias Study Group, which includes hematologists caring for both adults and children. PMID:28550188

  3. Red blood cell vesiculation in hereditary hemolytic anemia

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    Amr eAlaarg

    2013-12-01

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

  4. Red blood cell vesiculation in hereditary hemolytic anemia

    Science.gov (United States)

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

    2013-01-01

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

  5. Study of serum hepcidin in hereditary hemolytic anemias.

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    El Beshlawy, Amal; Alaraby, Ibrahim; Abdel Kader, Mohamed S E M; Ahmed, Dina H; Abdelrahman, Hossam E M

    2012-01-01

    The aim of this study was to assess the level of hepcidin in hereditary chronic hemolytic anemias and to correlate the serum hepcidin levels to the need for blood transfusions (frequency of blood transfusions and the serum ferritin level). Seventy pediatric patients with hereditary chronic hemolytic anemias, attending to hematology clinics of Cairo University and Misr University for Science and Technology (MUST) hospitals were the subjects of this study [53 patients with β-thalassemia major (β-TM), 10 patients with β-thalassemia intermedia (β-TI), four patients with congenital spherocytosis and three patients with sickle cell disease) (38 males and 32 females)]; their ages ranged from 1-14 years. Seventy normal children, age- and sex-matched, served as the control group. The results of this study revealed decreased hepcidin levels in patients (all types of congenital chronic hemolytic anemias) [mean ± SD (standard deviation) = 22.9 ± 6.0] compared to controls (mean ± SD = 132.4 ± 16.7) with highly significant statistical difference in between. Hepcidin levels were higher in β-TM patients (mean ± SD = 23.7 ± 6.2) than in β-TI patients (mean ± SD = 21.8 ± 4.0), the hepcidin to ferritin ratio was significantly less than one. In β-TM patients, the mean ± SD was 0.03 ± 0.004, and in β-TI patients the mean ± SD = 0.025 ± 0.002, with highly significant statistical difference with hepcidin-to-ferritin ratios in controls being mean ± SD = 2.3 ± 0.7. Hepcidin and hepcidin/ferritin ratios can be used as good markers of hemolytic anemia and iron overload as they have very high sensitivity (99.0 and 99.0%, respectively) and very high specificity (98.0 and 97.0%, respectively). Our findings highlight the potential usefulness of hepcidin measurement as a diagnostic tool. The use of hepcidin as an adjuvant therapy with iron chelators is important as it has a vital role in combating hemosidrosis.

  6. Coexistence of Gilbert syndrome with hereditary haemolytic anaemias.

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    Rawa, Katarzyna; Adamowicz-Salach, Anna; Matysiak, Michal; Trzemecka, Anna; Burzynska, Beata

    2012-07-01

    Gilbert syndrome is an inherited disease characterised by mild unconjugated hyperbilirubinaemia caused by mutations in UGT1A1 gene which lead to decreased activity of UDP-glucuronosyltransferase 1A1. The most frequent genetic defect is a homozygous TA dinucleotide insertion in the regulatory TATA box in the UGT1A1 gene promoter. 182 Polish healthy individuals and 256 patients with different types of hereditary haemolytic anaemias were examined for the A(TA)(n)TAA motif. PCR was performed using sense primer labelled by 6-Fam and capillary electrophoresis was carried out in an ABI 3730 DNA analyser. The frequency of the (TA)(7)/(TA)(7) genotype in the control group was estimated at 18.13%, (TA)(6)/(TA)(7) at 45.05% and (TA)(6)/(TA)(6) at 36.26%. There was a statistically significant difference in the (TA)(6)/(TA)(6) genotype distribution between healthy individuals and patients with glucose-6-phosphate dehydrogenase deficiency (p=0.041). Additionally, uncommon genotypes, (TA)(5)/(TA)(6), (TA)(5)/(TA)(7) and (TA)(7)/(TA)(8) of the promoter polymorphism, were discovered. Genotyping of the UGT1A1 gene showed distinct distribution of the common A(TA)(n)TAA polymorphism relative to other European populations. Because of a greater risk of hyperbilirubinaemia due to hereditary haemolytic anaemia, the diagnosis of Gilbert syndrome in this group of patients is very important.

  7. [New causes of microcytic anaemia: hereditary disorders of iron homeostasis].

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    van Rooijen, Karlijn L; Raymakers, Reinier A P; Cuijpers, Marloes L H; Brons, Paul P T; Janssen, Mirian C H; Swinkels, Dorine W

    2010-01-01

    Recently various new gene defects have been identified which explain some previously unknown causes of inherited microcytic anaemias. These defects are located in genes that encode for the cellular iron importing protein Divalent Metal Transporter 1 (DMT1), the iron exporting protein ferroportin, the mitochondrial enzyme glutaredoxin-5 and the hepatocyte membrane protein matriptase-2.

  8. Ultra-performance liquid chromatography-tandem mass spectrometry-based multiplex enzyme assay for six enzymes associated with hereditary hemolytic anemia.

    Science.gov (United States)

    Park, Chul Min; Lee, Kyunghoon; Jun, Sun-Hee; Song, Sang Hoon; Song, Junghan

    2017-08-15

    Deficiencies in erythrocyte metabolic enzymes are associated with hereditary hemolytic anemia. Here, we report the development of a novel multiplex enzyme assay for six major enzymes, namely glucose-6-phosphate dehydrogenase, pyruvate kinase, pyrimidine 5'-nucleotidase, hexokinase, triosephosphate isomerase, and adenosine deaminase, deficiencies in which are implicated in erythrocyte enzymopathies. To overcome the drawbacks of traditional spectrophotometric enzyme assays, the present assay was based on ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The products of the six enzymes were directly measured by using ion pairing UPLC-MS/MS, and the precision, linearity, ion suppression, optimal sample amounts, and incubation times were evaluated. Eighty-three normal individuals and 13 patients with suspected enzymopathy were analyzed. The UPLC running time was within 5min. No ion suppression was observed at the retention time for the products or internal standards. We selected an optimal dilution factor and incubation time for each enzyme system. The intra- and inter-assay imprecision values (CVs) were 2.5-12.1% and 2.9-14.3%, respectively. The linearity of each system was good, with R2 values >0.97. Patient samples showed consistently lower enzyme activities than those from normal individuals. The present ion paring UPLC-MS/MS assay enables facile and reproducible multiplex evaluation of the activity of enzymes implicated in enzymopathy-associated hemolytic anemia. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Intervention and Prevention of Hereditary Hemolytic Disorders in Two Ethnic Communities of Sundargarh District of Orissa, India: An Experience from KAP Studies

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    Balgir RS

    2010-10-01

    Full Text Available Hereditary hemolytic disorders are important public health challenges in India. They cause a high degree of morbidity, mortality and fetal wastage in vulnerable communities. Tradition-bound-psychosocial influences are detrimental to the process of prevention. This study was designed to create awareness, motivate, and sensitize two major vulnerable tribal communities: Bhuyan and Kharia for hemoglobin and allied hemolytic disorders in addition to imparting prospective and retrospective genetic/marriage counseling. Bhuyan and Kharia tribal people in Orissa live in clusters practicing inter-village tribal endogamy and clan exogamy. For the present study, random sampling procedure for the selection of whole village was followed. Imparting of education, motivation and sensitization for carrier detection were carried out through IEC materials, holding interactive meetings and discussions at district, block and village levels. Both prospective and retrospective intervention and genetic/marriage counseling was done through the local PHC doctor. The pre- and post-intervention knowledge, attitude and practice (KAP studies were conducted. Tribal people were not knowing the signs and symptoms of sickle cell disease (2.1% and beta-thalassemia (1.0%, but after IEC, their knowledge was considerably improved (67.8%, 56.4%, respectively. Sickle cell patient needs treatment (37.6% like folic acid, blood transfusion, etc. Beta-thalassemia is disease causes bloodlessness and is a transfusion dependent (73.2%. All patients of thalassemia major or sickle cell disease have carrier parents and carriers do not suffer from any clinical ailments. After intervention, it was known that G-6-PD is an enzyme, which helps in glucose metabolism of red cells (76.4% and its hereditary deficiency causes hemolytic anemia, jaundice and black urination (73.8% in malaria cases when anti-malarials are administered. Methodical and prudent intervention and preventive strategies found

  10. Intervention and prevention of hereditary hemolytic disorders in India: a case study of two ethnic communities of Sundargarh district in Orissa.

    Science.gov (United States)

    Balgir, R S

    2008-11-01

    This study was aimed at to sensitize, motivate, and screen two major vulnerable tribal communities--Bhuyan and Kharia, for hemoglobinopathies and allied hemolytic disorders, along with prospective and retrospective genetic/marriage counseling to the affected persons. For sustainability, imparting of relevant training to local paramedical staff, and to undertake periodic follow up for evaluation, intervention and clinical management through local PHCs/hospitals. Tribal people in Orissa live in clusters practicing inter-village marriages following tribal endogamy and clan exogamy. The random sampling procedure for the selection of whole village was followed. Population of each tribe was representative because incoming and outgoing married women represent other surrounding villages belonging to their community. The pre- and post-intervention knowledge, attitude and practice (KAP) studies were conducted. Sensitization, motivation and education for carrier detection were carried out through IEC materials, holding interactive meetings and discussions at district, block and village levels. Standard biochemical and hematological techniques were followed for analysis of blood samples. Relevant training to local health personnel was imparted. Both prospective and retrospective intervention and genetic/marriage counseling was done through local PHC doctor. Study revealed high occurrence of hemoglobinopathies in Bhuyan (9.8%) and Kharia (13.3%) tribes, including uncommon hemoglobin variants like hemoglobin D, E, beta-thalassemia, and hereditary persistence of fetal hemoglobin (HPFH). G-6-PD enzyme deficiency was high in Dhelki Kharia (30.7%) and in Dudh Kharia (19.2%), whereas, it was recorded to be 21.1%, 16.3% and 13.7% in Paraja, Paik and Paudi Bhuyan subtribes, respectively. Use of antimalarials was cautioned in these tribal communities. Due to low frequency of Rhesus (D) negative (0.2-1.2%), the Rhesus (D) incompatibility problem seemed to be absent. Impact of methodical

  11. Hemolytic anemia

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    Anemia - hemolytic ... bones that helps form all blood cells. Hemolytic anemia occurs when the bone marrow isn't making ... destroyed. There are several possible causes of hemolytic anemia. Red blood cells may be destroyed due to: ...

  12. Study of chronic hemolytic anaemia patients in Rio de Janeiro: prevalence of anti-human parvovirus B19 IgG antibodies and the developement aplastic crises

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    SANT'ANNA Anadayr L.M.

    2002-01-01

    Full Text Available The prevalence of anti-human parvovirus B19 IgG antibodies was determined in sera from 165 chronic hemolytic anemia patients, receiving medical care at Instituto Estadual de Hematologia (IEHE, Rio de Janeiro, during the year of 1994. This sample represents around 10% of the chronic hemolytic anemia patients attending at IEHE. Most of these patients (140 have sickle cell disease. Anti-B19 IgG antibodies were detected in 32.1% of patients. No statistically significant difference (p > 0.05 was seen between IgG antibody prevalence in male (27.8% and female (35.5% patients. Anti-B19 IgG antibodies were more frequent in older (37.6% than younger (28.2% than 20 years old patients, although this difference had no statistical significance (p > 0.05. Anti-B19 IgG antibody prevalence showed that 67.9% of patients enrolled in the study were susceptible to B19 acute infection. With the aim to detect acute B19 infection, patients follow up continued until February 1996. During this period four patients presented transient aplastic crisis due to human parvovirus B19 as confirmed by the detection of specific IgM antibodies. All four patients were younger than 20 years old, and 3 were younger than 10 years old. Three of them were sickle cell disease patients. Three of the four acute B19 infection occurred during 1994 springtime.

  13. Study of chronic hemolytic anaemia patients in Rio de Janeiro: prevalence of anti-human parvovirus B19 IgG antibodies and the development aplastic crises.

    Science.gov (United States)

    Sant'Anna, Anadayr L M; Garcia, Rita de Cássia N Cubel; Marzoche, Mônica; da Rocha, Heloisa Helena A Gallo; Paula, Maria Tereza M; Lobo, Clarisse C; Nascimento, Jussara P

    2002-01-01

    The prevalence of anti-human parvovirus B19 IgG antibodies was determined in sera from 165 chronic hemolytic anemia patients, receiving medical care at Instituto Estadual de Hematologia (IEHE), Rio de Janeiro, during the year of 1994. This sample represents around 10% of the chronic hemolytic anemia patients attending at IEHE. Most of these patients (140) have sickle cell disease. Anti-B19 IgG antibodies were detected in 32.1% of patients. No statistically significant difference (p > 0.05) was seen between IgG antibody prevalence in male (27.8%) and female (35.5%) patients. Anti-B19 IgG antibodies were more frequent in older (37.6%) than younger (28.2%) than 20 years old patients, although this difference had no statistical significance (p > 0.05). Anti-B19 IgG antibody prevalence showed that 67.9% of patients enrolled in the study were susceptible to B19 acute infection. With the aim to detect acute B19 infection, patients follow up continued until February 1996. During this period four patients presented transient aplastic crisis due to human parvovirus B19 as confirmed by the detection of specific IgM antibodies. All four patients were younger than 20 years old, and 3 were younger than 10 years old. Three of them were sickle cell disease patients. Three of the four acute B19 infection occurred during 1994 springtime.

  14. Hemolytic crisis

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    ... page: //medlineplus.gov/ency/article/003270.htm Hemolytic crisis To use the sharing features on this page, please enable JavaScript. Hemolytic crisis occurs when large numbers of red blood cells ...

  15. [Hemolytic anemias and vitamin B12 deficieny].

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    Dietzfelbinger, Hermann; Hubmann, Max

    2015-08-01

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

  16. Hereditary spherocytosis

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    Meenakshi Kalyan

    2014-01-01

    Full Text Available Hereditary spherocytosis (HS is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. In severe cases, the disorder may present in early childhood, but in some cases it may go unnoticed until later in adult life. We present a 32-year-old male who presented with anemia, jaundice, splenomegaly, and gallstones. Seven of his family members had similar illness in the past. The Mother died of similar illness at the age of 40. The Blood film showed spherocytosis and reticulocytosis. There was increased osmotic fragility and a negative direct coomb′s test. He was given folic acid supplements and was advised for splenectomy and cholecystectomy. This case is reported due to its rarity in Indian population.

  17. Hemolytic Anemia

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    ... levels of white blood cells and platelets. Other Causes of Damage to Red Blood Cells Certain infections and substances also can damage red blood cells and lead to hemolytic anemia. Examples include malaria and blackwater fever, tick-borne diseases, snake venom, ...

  18. Toxic hemolytic anemias.

    OpenAIRE

    ZEMANOVÁ, Vendula

    2014-01-01

    This thesis deals with toxic hemolytic anemias which are often unheeded. There are described laboratory signs of hemolytic anemias, their dividing into the various groups and it focuses mainly to toxic and drug-related hemolytic anemias and their causations.

  19. Hereditary spherocytosis. | Hassan | Annals of African Medicine

    African Journals Online (AJOL)

    Hereditary spherocytosis (HS) is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. Although a positive family history of spherocytosis increases the risk for this disorder, it may be sporadic in some cases. In severe cases the ...

  20. [Hemolytic-uremic syndrome].

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    Bláhová, K

    2004-07-01

    Hemolytic-uremic syndrome (HUS) is the most common cause of acute renal failure in children below 3 years of age. It is defined by a triad of symptoms which associates hemolytic anemia with fragmented erythrocytes, thrombocytopenia and acute renal failure. Three types of HUS can be distinguished: typical HUS, also called diarrhoea-associated (D+HUS), very rare atypical HUS (D-HUS) and secondary HUS (drug induced, C+HUS, in patients receiving marrow transplantation, etc.). The common event among these entities appears to be vascular endothelial cell injury, which induces mechanical destruction of erythrocytes, activation of platelet aggregation and local intravascular coagulation, especially in the renal microvasculature. D+HUS represents 90% of HUS in children. Evidence of exposure to verotoxin (VT), shiga toxin (ST) producing Escherichia coli (VTEC or STEC) has been demonstrated in many countries in about 85% of cases. Serotype O157:H7 is the most frequent. Early and accurate supportive treatment and early start of dialysis is the major importance and allows a current mortality rate below 5%-10%. Vital prognosis is compromized in cases with multivisceral involvement. After 15 years or more of apparent recovery, 20 to 60% of patients have residual renal symptoms, with up to 20% having chronic renal insufficiency (CRI) or end-stage renal disease (ESRD). Atypical HUS represents less than 10% of HUS in children. Some of these cases (familial) are associated with low C3 levels, hereditary deficiency of factor H or with mutations in factor H gene. The deficiency of von Willebrand factor cleaving protease, as reported in adults with thrombotic thrombocytopenic purpura (TTP), is not present in D+HUS.

  1. [Treatment and results of therapy in autoimmune hemolytic anemia].

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    Tasić, J; Macukanović, L; Pavlović, M; Koraćević, S; Govedarević, N; Kitić, Lj; Tijanić, I; Bakić, M

    1994-01-01

    Basic principles in the therapy of idiopathic autoimmune hemolytic anemia induced by warm antibody were glucocorticoides and splenectomy. Immunosupresive drugs, plasmaferesis and intravenous high doses gamma globulin therapy are also useful. In secundary autoimmune hemolytic anemia induced by warm antibody we treated basic illness. During the period of 1990-1992 we treated 21 patients with primary autoimmune hemolytic anemia and 6 patients with secondary /4 CLL and 2 Non-Hodgkin's lymphoma/. Complete remission we found as a normalisation of reticulocites and hemoglobin level respectively. Complete remission by corticoides we got in 14/21 patients, partial response in 2/21 respectively. Complete response by splenectomy we got in 2/3 splenoctomized patients (idiopathic type). For successful treatment secondary hemolytic anemias we treated primary diseases (CLL and malignant lymphoma) and we got in 4/6 patients complete remission. Our results were standard in both type of autoimmune hemolytic anaemias induced by warm antibody.

  2. Hereditary Pancreatitis

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    ... E-News Sign-Up Home Hereditary Pancreatitis Hereditary Pancreatitis Hereditary Pancreatitis (HP) is a rare genetic condition characterized by ... of pancreatic attacks, which can progress to chronic pancreatitis . Symptoms include abdominal pain, nausea, and vomiting. Onset ...

  3. Hereditary spectrin deficiency in Golden Retriever dogs

    NARCIS (Netherlands)

    Slappendel, Robbert J.; van Zwieten, Rob; van Leeuwen, Martin; Schneijdenberg, Chris T. W. M.

    2005-01-01

    Spectrin deficiency with increased erythrocyte osmotic fragility (OF) is a hallmark of hereditary spherocytosis, which is the most common congenital hemolytic anemia in humans of northern European ancestry. A radioimmunoassay revealed that erythrocyte spectrin concentration was 50-65% of normal in 5

  4. [Hemolytic anemias in adults].

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    Müller, A; Zimmermann, R; Krause, S W

    2011-11-01

    The erythrocyte lifespan in haemolytic anemia is shortened while erythropoesis is increased. Important labaratory findings are increased reticulocytes, LDH, indirect bilirubin and a decreased haptoglobin level. The most important diagnostic tool for further work up of hemolytic anemia is the direct antiglobulin test (DAT, Coombs test) to differentiate autoimmune hemolytic anemia (AIHA) from other causes. Another important group are fragmentation syndroms (hemolytic uremic syndrome and thrombotic thrombocytopenic purpura). In these forms of haemolytic anemia fragmented red blood cells can be found in the blood smear together with thrombocytopenia. A severe problem in paroxysmal nocturnal hematuria is the incidence of thrombosis. The following review describes the most important forms of hemolytic anemia in the adult and the diagnostic and therapeutic strategies. © Georg Thieme Verlag KG Stuttgart · New York.

  5. A long-term follow-up study of subtotal splenectomy in children with hereditary spherocytosis

    NARCIS (Netherlands)

    Rosman, Colin; Broens, P M A; Trzpis, M; Tamminga, R Y J

    2017-01-01

    BACKGROUND: Hereditary spherocytosis (HS) is a heterogeneous hemolytic anemia treated with splenectomy in patients suffering from severe or moderate disease. Total splenectomy, however, renders patients vulnerable to overwhelming postsplenectomy infection despite preventive measures. Although

  6. Hereditary Neuropathies

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    ... the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent ... the appearance of an inverted champagne glass) or scoliosis (curvature of the spine). The symptoms of hereditary neuropathies may be apparent ...

  7. Congenital Hemolytic Anemia.

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    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Extramedullary paraspinal hematopoiesis in hereditary spherocytosis

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    Gogia P

    2008-01-01

    Full Text Available Hereditary spherocytosis (HS is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production. The preferred sites of extramedullary hematopoietic involvement are the spleen, liver and lymph nodes; but in HS, the posterior paravertebral mediastinum is also commonly involved. We report a case of a 50-year-old male who presented to us in respiratory distress and with bilateral paravertebral posterior mediastinal masses, which on trucut biopsy were found to be extra-hematopoietic masses; and the patient was found to have hereditary spherocytosis.

  9. Impairment of bone health in pediatric patients with hemolytic anemia.

    Directory of Open Access Journals (Sweden)

    Michael M Schündeln

    Full Text Available 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.

  10. [Autoimmune hemolytic anemia in children].

    Science.gov (United States)

    Becheur, M; Bouslama, B; Slama, H; Toumi, N E H

    2015-01-01

    Autoimmune hemolytic anemia is a rare condition in children which differs from the adult form. It is defined by immune-mediated destruction of red blood cells caused by autoantibodies. Characteristics of the autoantibodies are responsible for the various clinical entities. Classifications of autoimmune hemolytic anemia include warm autoimmune hemolytic anemia, cold autoimmune hemolytic anemia, and paroxysmal cold hemoglobinuria. For each classification, this review discusses the epidemiology, etiology, clinical presentation, laboratory evaluation, and treatment options. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.

    NARCIS (Netherlands)

    Darghouth, D.; Koehl, B.; Heilier, J.F.; Madalinski, G.; Bovee, P.H.; Bosman, G.J.C.G.M.; Delaunay, J.; Junot, C.; Romeo, P.H.

    2011-01-01

    Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this

  12. Drug-induced immune hemolytic anemia

    Science.gov (United States)

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

  13. Anaemia in the elderly.

    Science.gov (United States)

    Gómez Ramírez, Susana; Remacha Sevilla, Ángel Francisco; Muñoz Gómez, Manuel

    2017-12-07

    Anaemia is common in the elderly and is associated with an increased risk of physical, functional, and cognitive impairment, hospitalisation and mortality. Although it is unknown whether anaemia is a causal factor or a subrogated marker of worse health status, its correction can improve the patients' physical and functional capacity. Detection, classification, and treatment of anaemia should be a priority for the health system. The main causes of anaemia in the elderly are nutritional deficiencies and chronic disease, with or without kidney failure, although some cases are of indeterminate origin. Medical history and physical examination help to clarify its aetiology. A diagnostic algorithm based on data from the lab allows anaemia classification with a therapeutic orientation. Supplements of iron and maturation factors, as well as erythropoiesis-stimulating agents, constitute the mainstay of treatment, along with that of the underlying disease, whereas red blood cell transfusion should be reserved for severe cases. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  14. Anaemia in pregnancy.

    Science.gov (United States)

    Goonewardene, Malik; Shehata, Mishkat; Hamad, Asma

    2012-02-01

    Anaemia in pregnancy, defined as a haemoglobin concentration (Hb) anaemia in pregnancy, nutritional iron deficiency anaemia (IDA) being the commonest. Underlying inflammatory conditions, physiological haemodilution and several factors affecting Hb and iron status in pregnancy lead to difficulties in establishing a definitive diagnosis. IDA is associated with increased maternal and perinatal morbidity and mortality, and long-term adverse effects in the new born. Strategies to prevent anaemia in pregnancy and its adverse effects include treatment of underlying conditions, iron and folate supplementation given weekly for all menstruating women including adolescents and daily for women during pregnancy and the post partum period, and delayed clamping of the umbilical cord at delivery. Oral iron is preferable to intravenous therapy for treatment of IDA. B12 and folate deficiencies in pregnancy are rare and may be due to inadequate dietary intake with the latter being more common. These vitamins play an important role in embryo genesis and hence any relative deficiencies may result in congenital abnormalities. Finding the underlying cause are crucial to the management of these deficiencies. Haemolytic anaemias rare also rare in pregnancy, but may have life-threatening complications if the diagnosis is not made in good time and acted upon appropriately. Copyright © 2011 Elsevier Ltd. All rights reserved.

  15. Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register.

    Science.gov (United States)

    Hansen, Dennis Lund; Overgaard, Ulrik Malthe; Pedersen, Lars; Frederiksen, Henrik

    2016-01-01

    The nationwide public health registers in Denmark provide a unique opportunity for evaluation of disease-associated morbidity if the positive predictive values (PPVs) of the primary diagnosis are known. The aim of this study was to evaluate the predictive values of hemolytic anemias registered in the Danish National Patient Register. All patients with a first-ever diagnosis of hemolytic anemia from either specialist outpatient clinic contact or inpatient admission at Odense University Hospital from January 1994 through December 2011 were considered for inclusion. Patients with mechanical reason for hemolysis such as an artificial heart valve, and patients with vitamin-B12 or folic acid deficiency were excluded. We identified 412 eligible patients: 249 with a congenital hemolytic anemia diagnosis and 163 with acquired hemolytic anemia diagnosis. In all, hemolysis was confirmed in 359 patients, yielding an overall PPV of 87.1% (95% confidence interval [CI]: 83.5%-90.2%). A diagnosis could be established in 392 patients of whom 355 patients had a hemolytic diagnosis. Diagnosis was confirmed in 197 of the 249 patients with congenital hemolytic anemia, yielding a PPV of 79.1% (95% CI: 73.5%-84.0%). Diagnosis of acquired hemolytic anemia could be confirmed in 136 of the 163 patients, resulting in a PPV of 83.4% (95% CI: 76.8%-88.8%). For hemoglobinopathy PPV was 84.1% (95% CI: 77.4%-89.4%), for hereditary spherocytosis PPV was 80.6% (95% CI: 69.5%-88.9%), and for autoimmune hemolytic anemia PPV was 78.4% (95% CI: 70.4%-85.0%). The PPV of hemolytic anemias was moderately high. The PPVs were comparable in the three main categories of overall hemolysis, and congenital and acquired hemolytic anemia.

  16. Hereditary hyperbilirubinemias

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2014-01-01

    Full Text Available Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.

  17. Micronutrients and anaemia.

    Science.gov (United States)

    Jamil, Kazi M; Rahman, Ahmed Shafiqur; Bardhan, P K; Khan, Ashraful Islam; Chowdhury, Fahima; Sarker, Shafiqul Alam; Khan, Ali Miraj; Ahmed, Tahmeed

    2008-09-01

    Micronutrient deficiencies and anaemia remain as major health concerns for children in Bangladesh. Among the micronutrient interventions, supplementation with vitamin A to children aged less than five years has been the most successful, especially after distribution of vitamin A was combined with National Immunization Days. Although salt sold in Bangladesh is intended to contain iodine, much of the salt does not contain iodine, and iodine deficiency continues to be common. Anaemia similarly is common among all population groups and has shown no sign of improvement even when iron-supplementation programmes have been attempted. It appears that many other causes contribute to anaemia in addition to iron deficiency. Zinc deficiency is a key micronutrient deficiency and is covered in a separate paper because of its importance among new child-health interventions.

  18. A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51

    NARCIS (Netherlands)

    Ameziane, Najim; May, Patrick; Haitjema, Anneke; van de Vrugt, Henri J.; van Rossum-Fikkert, Sari E.; Ristic, Dejan; Williams, Gareth J.; Balk, Jesper; Rockx, Davy; Li, Hong; Rooimans, Martin A.; Oostra, Anneke B.; Velleuer, Eunike; Dietrich, Ralf; Bleijerveld, Onno B.; Maarten Altelaar, A. F.; Meijers-Heijboer, Hanne; Joenje, Hans; Glusman, Gustavo; Roach, Jared; Hood, Leroy; Galas, David; Wyman, Claire; Balling, Rudi; den Dunnen, Johan; de Winter, Johan P.; Kanaar, Roland; Gelinas, Richard; Dorsman, Josephine C.

    2015-01-01

    Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cross-linker-induced chromosomal instability in association with developmental abnormalities, bone marrow failure and a strong predisposition to cancer. A total of 17 FA disease genes have been reported, all of which act

  19. 60 - 63 Sani Anaemia

    African Journals Online (AJOL)

    DR. AMIN

    Research. 2(1): 39-42. Pawlowski, Z. S., Schad, G. A. and Stott, G. J. (1991):. Hookworm Infection and Anaemia. World. Health Organisation, Geneva, 5th Edition. Redmond, W. A. (2009): Kano “(City, Nigeria).” Microsoft® Encarta ® 2009 [DVD] Microsoft. Corporation. Usman, T. (1988): A Comparative Study of Prevalence.

  20. Anaemia (part 2)

    African Journals Online (AJOL)

    SA immigration laws. This led to an influx of visitors for business, leisure and employment purposes from various parts of the world. Consequently, healthcare workers are now exposed to inherited haemolytic conditions previously not highly prevalent in SA. Physiological states of anaemia,. e.g. pregnancy, are not included ...

  1. Hereditary angioedema

    DEFF Research Database (Denmark)

    Peterson, M P; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this re...... of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency....

  2. Anaemia In Pregnancy In Malawi- A Review

    African Journals Online (AJOL)

    World Health Organization further divide anaemia in pregnancy into: mild anaemia (haemoglobin 10–10.99/. dL), moderate anaemia (Hb 7.0-9.9g/dL) and severe anaemia (haemoglobin - 7g/dL)”. This is an arbitrary classification. The definition of severe anaemia in the published literature, however, varies and this may also.

  3. Hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Stephen A. Geller

    2015-03-01

    Full Text Available Hereditary hemochromatosis (HH is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This entity is associated with mutations of the HFE gene (located on the short arm of chromosome 6 at location 6p22.2; closely linked to the HLA-A3 locus, which encodes the HFE protein, a membrane protein thought to regulate iron absorption by affecting the interaction between transferrin receptor and transferrin.

  4. Hemolytic interactions of Dermatophilus congolensis.

    Science.gov (United States)

    Skalka, B; Pospísil, L

    1992-03-01

    The strains of Dermatophilus congolensis grew on blood agar with washed sheep erythrocytes with marked total hemolysis. In testing for hemolytic interactions they gave a significant synergistic effect of a characteristic shape with Rhodococcus equi and Streptococcus agalactiae, whereas with Staphylococcus aureus producing beta hemolysin and with Staphylococcus aureus producing delta hemolysin a simultaneous synergistic as well as antagonistic effect were observed. First of all a conspicuous inhibition of in the beta hemolysin zone began and then the hemolytic effect of D. congolensis was enhanced. A similar double reaction was also observed with Listeria ivanovii. With delta hemolysin there was an inhibition of the hemolytic effect of D. congolensis and at the same time a synergistic effect could be observed. Also D. congolensis gave a weak synergistic effect with Micrococcus lylae and Listeria monocytogenes, and a further weak antagonistic effect with alpha hemolysin of Staphylococcus aureus, Staphylococcus hyicus, Staphylococcus chromogenes and Micrococcus luteus. No interaction of D. congolensis was established with Corynebacterium pseudotuberculosis.

  5. Paravertebral Mass in a Patient with Hemolytic Anemia: Computed Tomographic Findings

    Directory of Open Access Journals (Sweden)

    Juliana França Carvalho

    2010-01-01

    Full Text Available Extramedullary hematopoiesis is characterized by the presence of hematopoietic tissue outside of the bone marrow and is typically associated with chronic hemolytic anemias. Intrathoracic extramedullary hematopoiesis is a rare and usually asymptomatic condition. The authors report a case of a 57-year-old man with intrathoracic extramedullary hematopoiesis and hereditary spherocytosis. Clinical and laboratory evaluation, together with radiological findings, are described. The diagnosis of the disease was confirmed by tissue biopsy.

  6. Paravertebral Mass in a Patient with Hemolytic Anemia: Computed Tomographic Findings

    Science.gov (United States)

    Carvalho, Juliana França; Marchiori, Edson; Zanetti, Gláucia; Mano, Claudia Mauro; Sarcinelli-Luz, Branca; Vianna, Flávia Gavinho; Assed, Carla; Santos, Isabella Guedes; Santos, Alair Augusto S. M. D.; Vianna, Alberto Domingues

    2010-01-01

    Extramedullary hematopoiesis is characterized by the presence of hematopoietic tissue outside of the bone marrow and is typically associated with chronic hemolytic anemias. Intrathoracic extramedullary hematopoiesis is a rare and usually asymptomatic condition. The authors report a case of a 57-year-old man with intrathoracic extramedullary hematopoiesis and hereditary spherocytosis. Clinical and laboratory evaluation, together with radiological findings, are described. The diagnosis of the disease was confirmed by tissue biopsy. PMID:20368781

  7. Anaemia – a pale ale?

    African Journals Online (AJOL)

    The word "anaemia" (also spelled anemia) is composed of two. Greek roots that together mean "without blood", but to use this literal translation as a definition would be a gross exaggeration. Still, the modern definition is simple: anaemia is any condition characterised by an abnormal decrease in the body's total red blood.

  8. Is Pancreatic Cancer Hereditary?

    Science.gov (United States)

    ... Board Patient Education / Basics of Pancreatic Cancer Is pancreatic cancer hereditary? Cancer of the pancreas is a genetic ... found in cigarette smoke. The genetics of hereditary pancreatic cancer is a focus of research at Johns Hopkins. ...

  9. Gilbert syndrome increasing unconjugated hyperbilirubinemia in a child with hereditary spherocytosis.

    Science.gov (United States)

    Kumar, Dipti; Parakh, Ankit; Sharma, Sunita

    2012-01-01

    Hemolytic anemia usually gives rise to only a modest elevation of serum bilirubin. Unconjugated hyperbilirubinemia of an extreme degree should raise suspicion of additional factors. We describe a 10-year-old child suffering from hereditary spherocytosis, who had unusually high levels of unconjugated serum bilirubin and was diagnosed to have Gilbert syndrome on the basis of genetic analysis.

  10. [Anaemia in chronic heart failure].

    Science.gov (United States)

    Hradec, J

    2010-08-01

    Anaemia is a relatively frequent co-morbidity of chronic heart as well as chronic renal failure. In both conditions, it represents a strong and independent predictor of increased morbidity and mortality. Aetiology of this anaemia is multi-factorial. A number of various factors play a role in its development, e.g. inadequate erythropoietin production in the kidneys, bone marrow inhibition, iron deficiency as well as haemodilution associated with fluid retention. Treatment strategies aim at two directions. One is the stimulation of erythropoiesis with recombinant human erythropoietin or its analogues such as darbepoetin alpha. The other involves iron substitution, administered preferably intravenously for improved efficacy and tolerability. Clinical studies evaluating treatment of anaemia in chronic heart failure with erythropoiesis-stimulating agents conducted so far were ofa small scale, were not controlled with placebo and usually assessed proxy parameters. Their results suggested that effective treatment of anaemia in patients with chronic heart failure improves exertion tolerance, clinical status (NYHA class) as well as the quality of life and reduces the need for blood transfusions. Recently completed TREAT study was the first large morbidity and mortality study evaluating treatment of anaemia with an erythropoietin analogue compared to placebo. On a sample of more than 4000 patients with diabetes mellitus, chronic renal failure and significant anaemia, this study has shown that effective treatment of anaemia with darbepoetin alpha did not affect at all the incidence of cardiovascular and renal events; on the other hand, it had lead to a nearly two-fold increase in the incidence of cerebrovascular events. Some doubts about the safety of treatment with erythropoiesis-stimulating agents have occurred in the past based on the studies of anaemia treatment in patients with cancer and renal diseases. An answer to the question whether the treatment of anaemia

  11. Hereditary stomatocytosis: First case report from Valley of Kashmir

    Directory of Open Access Journals (Sweden)

    Javid Rasool

    2015-01-01

    Full Text Available Stomatocytes are erythrocytes with a central slit or mouth-shaped (stoma area of central pallor when examined on dried smears. In wet preparations, they are uniconcave rather than biconcave, giving them a bowllike appearance. In vitro, stomatocytes are produced by drugs that intercalate into the inner half of the lipid bilayer, thereby expanding the inner lipid surface area relative to that of the outer half of the bilayer. Hereditary stomatocytosis (also known as hereditary hydrocytosis, or overhydrated stomatocytosis refers to a heterogeneous group of autosomal dominant hemolytic anemias caused by altered sodium permeability of the red cell membrane. We present the first case report of hereditary stomatocytosis in a 10-year-old male from the valley of Kashmir. Only eight families with this condition have been described worldwide.

  12. Role of Complement in Autoimmune Hemolytic Anemia

    OpenAIRE

    Berentsen, Sigbj?rn

    2015-01-01

    Summary The classification of autoimmune hemolytic anemias and the complement system are reviewed. In autoimmune hemolytic anemia of the warm antibody type, complement-mediated cell lysis is clinically relevant in a proportion of the patients but is hardly essential for hemolysis in most patients. Cold antibody-mediated autoimmune hemolytic anemias (primary cold agglutinin disease, secondary cold agglutinin syndrome and paroxysmal cold hemoglobinuria) are entirely complement-mediated disorder...

  13. Сlinical case of hemolytic anemia combined with secondary chronic pyelonephritis and intracellular infection in a 7-year-old child

    Directory of Open Access Journals (Sweden)

    I.G. Samoylenko

    2017-04-01

    Full Text Available Hemolytic anemias are group of diseases that are characterized by decreased lifetime of erythrocytes due to their accelerated destruction caused by membrane and enzymopathies of red blood cells, defects in globin synthesis or external factors such as intoxications and autoimmune processes. The most common hemolytic anemia in Europe is hereditary spherocytosis, which occurs in a ratio of 1 : 2000. Hereditary spherocytosis (Minkowski — Chauffard disease is hereditary microspherocytic hemolytic anemia, which occurs as a result of mutation, leading to the erythrocyte membrane defect. Clinical manifestations of Minkowski — Chauffard anemia may vary from asymptomatic to fulminant hemolytic anemia, but commonly this disease has a undulant course. In our clinical practice, we observed hereditary spherocytosis combined with secondary chronic pyelonephritis and chronic persistent intracellular infection in a 7-year-old girl. The patient complained of high fever, general fatigue and weakness, and pain in the lower extremities. Complete doubling of the left kidney and urethra was diagnosed in a patient (her father has the same congenital pathology, which was diagnosed after the birth of his daughter and refluxing megаureter of the lower half of left doubled kidney in the first year of her life. The girl underwent heminephroureterectomy on the left. Despite the surgical intervention, a secondary chronic pyelonephritis developed. Due to frequent anemia, patient was previously observed in the hematological department, but diagnosis of hemolytic anemia was not confirmed. Our clinical case shows that presence of concomitant diseases, especially chronic intracellular infection combined with pyelonephritis, can significantly complicate hemolytic anemia. Pale skin and mucous membranes are considered as a symptom of pyelonephritis, and ictericity is considered as a manifestation of liver damage with intracellular infection. As a result, more detailed

  14. [Hereditary ovarian cancer].

    Science.gov (United States)

    Zikán, M; Foretová, L; Cibula, D; Kotlas, J; Pohlreich, P

    2006-05-01

    This article reviews the topic of hereditary ovarian cancer, describes persons at risk of hereditary disposition to cancer and gives instructions for genetic counselling and molecular analysis, including contacts to specialized centres in the Czech Republic. Review. Institute of Biochemistry and Experimental Oncology, Charles University in Prague. Hereditary ovarian cancer occurs in three autosomal dominant syndromes: appropriate hereditary ovarian cancer (HOC), hereditary breast and ovarian cancer (HBOC) and hereditary non-poliposis colorectal cancer (HNPCC). Physician in practice or specialist at the clinic should focus interest on patients form families with frequent occurrence of breast and/or ovarian cancer, patients with early onset disease or tumour duplicity (breast and ovarian cancer). Hereditary disposition to ovarian (and breast) cancer could be assessed by molecular genetic analysis of two main susceptibility genes BRCA1 and BRCA2, or other genes in families with diverse tumours. Molecular genetic analysis should be in any cases indicated by experienced clinical genetic. In the Czech Republic, the consensus of genetic and clinical care of risk patients was published and specialized centres for families with hereditary predisposition were settled in Prague and Brno. Persons with hereditary susceptibility to cancer constitute noted group where painstaking dispensarisation and preventive care may prevent malignancy or detect it in the early stage.

  15. Is hidradenitis suppurativa associated with anaemia?

    DEFF Research Database (Denmark)

    Miller, I. M.; Johansen, M E; Mogensen, U. B.

    2016-01-01

    BACKGROUND: Chronic inflammatory diseases may be associated with anaemia of inflammation. Hidradenitis suppurativa is a chronic inflammatory dermatological disease associated with metabolic comorbidities, low quality of life and fatigue. Anaemia may cause fatigue, and it has been hypothesized...

  16. Haemoglobin and anaemia in the SMART study

    DEFF Research Database (Denmark)

    Mocroft, Amanda; Lifson, Alan R; Touloumi, Giota

    2011-01-01

    Data from randomized trials on the development of anaemia after interruption of therapy are not well-described.......Data from randomized trials on the development of anaemia after interruption of therapy are not well-described....

  17. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... named? Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Hereditary angioedema Health Topic: Vascular Diseases Genetic and Rare Diseases Information Center (1 link) Hereditary ...

  18. HEREDITARY BREAST CANCER

    Directory of Open Access Journals (Sweden)

    E. M. Bit-Sava

    2013-01-01

    Full Text Available Hereditary breast cancer occurs in 5–20 % of cases and it is associated with inherited mutations in particular genes, such as BRCA1 и BRCA2 in most cases. The CHEK2, PTEN, TP53, ATM, RAD51, BLM, PALB2, Nbs genes are associated with low and median risks ofdeveloping breast cancer. Molecular genetic studies identify germinal mutations underlying hereditary breast cancer. In most cases hereditary breast cancer refers to triple-negative phenotype, which is the most aggressive type of breast cancer, that does not express the genes for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 (HER2. The review presents the diagnostic and treatment methods of hereditary breast cancer. Clinical-morphological aspects allow the new diagnostic and treatment methods of hereditary breast cancer to be identified. Poly (ADP-ribose polymerase (PARP inhibitors demonstrate the potential for effective treatment of BRCA-associated breast cancer.

  19. Automated reticulocyte parameters for hereditary spherocytosis screening.

    Science.gov (United States)

    Lazarova, Elena; Pradier, Olivier; Cotton, Frédéric; Gulbis, Béatrice

    2014-11-01

    The laboratory diagnosis of hereditary spherocytosis (HS) is based on several screening and confirmatory tests; our algorithm includes clinical features, red blood cell morphology analysis and cryohaemolysis test, and, in case of positive screening, sodium dodecyl sulphate polyacrylamide gel electrophoresis as a diagnostic test. Using the UniCel DxH800 (Beckman Coulter) haematology analyser, we investigated automated reticulocyte parameters as HS screening tool, i.e. mean reticulocyte volume (MRV), immature reticulocyte fraction (IRF) and mean sphered cell volume (MSCV). A total of 410 samples were screened. Gel electrophoresis was applied to 159 samples that were positive for the screening tests. A total of 48 patients were diagnosed as HS, and seven were diagnosed as acquired autoimmune haemolytic anaemia (AIHA). Some other 31 anaemic conditions were also studied. From the receiver operating characteristic (ROC) curve analysis, both delta (mean cell volume (MCV)-MSCV) and MRV presented an area under the curve (AUC) of 0.98. At the diagnostic cut-off of 100 % sensitivity, MRV showed the best specificity of 88 % and a positive likelihood ratio of 8.7. The parameters IRF, MRV and MSCV discriminated HS not only from controls and other tested pathologies but also from AIHA contrary to the cryohaemolysis test. In conclusion, automated reticulocyte parameters might be helpful for haemolytic anaemia diagnostic orientation even for general laboratories. In combination with cryohaemolysis, they ensure an effective and time-saving screening for HS for more specialised laboratories.

  20. [Hereditary optic neuropathies].

    Science.gov (United States)

    Milea, D; Verny, C

    2012-10-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized. Copyright © 2012. Published by Elsevier Masson SAS.

  1. The burden and morhological types of anaemia among HIV infected ...

    African Journals Online (AJOL)

    Conclusions and recommendations: The finding suggests that anaemia is common among HIV children even in the era of HAART. Microcytic hypochromic anaemia was the commonest type of anaemia suggesting the role of iron deficiency or anaemia of chronic infection. Further studies on the aetiology of anaemia in HIV ...

  2. Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report.

    Science.gov (United States)

    Tateno, Yuki; Suzuki, Ryoji; Kitamura, Yukihiro

    2016-12-01

    Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when hemolysis is well compensated. Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild. A 42-year-old Asian woman presented to our clinic with a sudden onset of high fever with shaking chills and jaundice, suggesting septicemia; however, following detailed investigation, the patient was diagnosed with pyelonephritis and accelerated hemolysis of hereditary spherocytosis due to infection. It is important to note that transient anemia or jaundice can sometimes be the only initial presenting symptoms in cases of undiagnosed latent hereditary spherocytosis. This case also highlights the fact that physicians should consider concomitant hemolytic disease in patients in whom jaundice and infections that rarely cause jaundice coexist.

  3. Hemolytic anemia caused by chemicals and toxins

    Science.gov (United States)

    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, platinum salts, ...

  4. Role of Complement in Autoimmune Hemolytic Anemia.

    Science.gov (United States)

    Berentsen, Sigbjørn

    2015-09-01

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

  5. Learning about Hereditary Hemochromatosis

    Science.gov (United States)

    Skip to main content Learning About Hereditary Hemochromatosis Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research ...

  6. Hereditary fructose intolerance

    Science.gov (United States)

    Fructosemia; Fructose intolerance; Fructose aldolase B-deficiency; Fructose-1, 6-bisphosphate aldolase deficiency ... substances build up in the liver. Hereditary fructose intolerance is inherited, which means it can be passed ...

  7. Treatment of autoimmune hemolytic anemias

    Science.gov (United States)

    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

  8. Warm antibody autoimmune hemolytic anemia.

    Science.gov (United States)

    Kalfa, Theodosia A

    2016-12-02

    Autoimmune hemolytic anemia (AIHA) is a rare and heterogeneous disease that affects 1 to 3/100 000 patients per year. AIHA caused by warm autoantibodies (w-AIHA), ie, antibodies that react with their antigens on the red blood cell optimally at 37°C, is the most common type, comprising ∼70% to 80% of all adult cases and ∼50% of pediatric cases. About half of the w-AIHA cases are called primary because no specific etiology can be found, whereas the rest are secondary to other recognizable underlying disorders. This review will focus on the postulated immunopathogenetic mechanisms in idiopathic and secondary w-AIHA and report on the rare cases of direct antiglobulin test-negative AIHA, which are even more likely to be fatal because of inherent characteristics of the causative antibodies, as well as because of delays in diagnosis and initiation of appropriate treatment. Then, the characteristics of w-AIHA associated with genetically defined immune dysregulation disorders and special considerations on its management will be discussed. Finally, the standard treatment options and newer therapeutic approaches for this chronic autoimmune blood disorder will be reviewed. © 2016 by The American Society of Hematology. All rights reserved.

  9. Coeliac disease, anaemia and pregnancy.

    Science.gov (United States)

    Haslam, N; Lock, R J; Unsworth, D J

    2001-01-01

    We have investigated the prevalence of positive serology for coeliac disease in pregnant women, using the IgA anti-endomysium antibody test. Five of 216 pregnant women with a haemoglobin less than 11 g/dl were positive, compared to 0/350 with haemoglobin > or = 11 g/dl. Four of these five had low plasma ferritin levels, indicative of iron deficiency anaemia; the fifth was borderline normal. We found no association between positive coeliac disease serology and folate deficiency. None of thirty mothers of children born with neural tube defects were IgA anti-endomysium antibody positive. This study has identified a very high prevalence of occult coeliac disease in pregnancy and a strong association with anaemia. We advise that in cases with a haemoglobin of less than 11 g/dl in pregnancy, coeliac disease should be excluded.

  10. [Hereditary kidney diseases in children].

    Science.gov (United States)

    Zhang, Yan-qin; Ding, Jie; Wang, Fang; Zhang, Hong-wen

    2013-04-18

    About 10 to 15 percent of kidney diseases are inherited or related to genetic factors. While, hereditary kidney diseases have no specific clinical manifestations and react poorly to the therapy, as a result, about 30 percent of hospitalized children with chronic renal failure is due to hereditary kidney diseases in our country. Hereditary kidney diseases are related to many genes. Molecular genetic analysis plays an important role in the diagnosis and prenatal diagnosis of hereditary kidney diseases. Our group have made a series of research in hereditary kidney diseases for nearly 30 years. Here we review the research work and the main results in hereditary kidney diseases of our group.

  11. Unexplained childhood anaemia: idiopathic pulmonary hemosiderosis.

    Science.gov (United States)

    Siu, K K; Li, Rever; Lam, S Y

    2015-04-01

    This report demonstrates pulmonary haemorrhage as a differential cause of anaemia. Idiopathic pulmonary hemosiderosis is a rare disease in children; it is classically described as a triad of haemoptysis, pulmonary infiltrates on chest radiograph, and iron-deficiency anaemia. However, anaemia may be the only presenting feature of idiopathic pulmonary hemosiderosis in children due to occult pulmonary haemorrhage. In addition, the serum ferritin is falsely high in idiopathic pulmonary hemosiderosis which increases the diagnostic difficulty. We recommend that pulmonary haemorrhage be suspected in any child presenting with iron-deficiency anaemia and persistent bilateral pulmonary infiltrates.

  12. Hereditary cancer syndromes.

    Science.gov (United States)

    Rahner, Nils; Steinke, Verena

    2008-10-01

    Persons carrying mutations for hereditary cancer syndromes are at high risk for the development of tumors at an early age, as well as the synchronous or metachronous development of multiple tumors of the corresponding tumor spectrum. The genetic causes of many hereditary cancer syndromes have already been identified. About 5% of all cancers are part of a hereditary cancer syndrome. Selective literature review, including evidence-based guidelines and recommendations. Clinical criteria are currently available according to which many hereditary cancer syndromes can be diagnosed or suspected and which point the way to further molecular genetic analysis. A physician can easily determine whether these criteria are met by directed questioning about the patient's personal and family medical history. The identification of the causative germ line mutation in the family allows confirmation of the diagnosis in the affected individual and opens up the option of predictive testing in healthy relatives. Mutation carriers for hereditary cancer syndromes need long-term medical surveillance in a specialized center. It is important that these persons should be identified in the primary care setting and then referred for genetic counseling if molecular genetic testing is to be performed in a targeted, rational manner.

  13. Hereditary gastric cancer.

    Science.gov (United States)

    Oliveira, Carla; Seruca, Raquel; Carneiro, Fátima

    2009-01-01

    Gastric cancer is a heterogeneous and highly prevalent disease, being the fourth most common cancer and the second leading cause of cancer associated death worldwide. Most cases are sporadic and familial clustering is observed in about 10% of the cases. Hereditary gastric cancer accounts for a very low percentage of cases (1-3%) and a single hereditary syndrome - Hereditary Diffuse Gastric Cancer (HDGC) - has been characterised. Among families that fulfil the clinical criteria for HDGC, about 40% carry CDH1 germline mutations, the genetic cause of the others being unknown. The management options for CDH1 asymptomatic germline carriers are intensive endoscopic surveillance and prophylactic gastrectomy. In this chapter we review the pathophysiology and clinicopathological features of HDGC and discuss issues related with genetic testing and management of family members.

  14. [Hereditary systemic autoinflammatory diseases].

    Science.gov (United States)

    Aróstegui, Juan I

    2011-01-01

    Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in genes encoding for different proteins involved in the innate immune response and inflammation. Herein, we will introduce the reader to an updated review of the main clinical, physiopathological and therapeutic features of the different hereditary systemic autoinflammatory diseases. Copyright © 2010 Elsevier España, S.L. All rights reserved.

  15. Autoimmune Hemolytic Anemia Induced by Levofloxacin

    Directory of Open Access Journals (Sweden)

    Marwan Sheikh-Taha

    2014-01-01

    Full Text Available Drug-induced autoimmune hemolytic anemia is a rare condition. We report the case of a 32-year-old white female who presented to the emergency department with generalized fatigue, fever, and jaundice. The patient reported using levofloxacin few days prior to presentation for urinary tract infection. The patient had evidence of hemolytic anemia with a hemoglobin of 6.7 g/dL which dropped to 5 g/dL on day 2, the direct Coombs test was positive, indirect bilirubin was 5.5 mg/dL, and LDH was 1283 IU/L. Further testing ruled out autoimmune disease, lymphoma, and leukemia as etiologies for the patient’s hemolytic anemia. Levofloxacin was immediately stopped with a gradual hematologic recovery within few days.

  16. Anaemia in Apparently Healthy Adult Nigerians | Olayemi ...

    African Journals Online (AJOL)

    , who did not have symptoms or signs of anaemia. Methods: One hundred and seventy apparently ... Results: Mean PCV for males was 0.374± 0.032 and for females was 0.326± 0.036.The prevalence of anaemia in the study population was ...

  17. Anaemia among adults in Kassala, Eastern Sudan

    Directory of Open Access Journals (Sweden)

    Abdallah Tajeldin M

    2012-07-01

    Full Text Available Abstract Background The increased heterogeneity in the distribution of social and biological risk factors makes the epidemiology of anaemia a real challenge. A cross-sectional study was conducted at Kassala, Eastern Sudan during the period of January — March 2011 to investigate the prevalence and predictors of anaemia among adults (> 15 years old. Findings Out of 646, 234 (36.2% adults had anaemia; 68 (10.5%; 129 (20.0% and 37 (5.7% had mild, moderate and severe anaemia, respectively. In logistic regression analyses, age (OR = 1.0, CI = 0.9–1, P = 0.7, rural vs. urban residency (OR = 0.9, CI = 0.7–1.3, P = 0.9, female vs. male gender (OR = 0.8, CI = 0.6–1.1, P = 0.3, educational level ≥ secondary level vs. P = 0.8 and Hudandawa vs. non-Hudandawa ethnicity (OR = 0.8, CI = 0.6–1, P = 0.1 were not associated with anaemia. Conclusion There was a high prevalence of anaemia in this setting, anaemia affected adults regardless to their age, sex and educational level. Therefore, anaemia is needed to be screened for routinely and supplements have to be employed in this setting.

  18. Adolescent Patients with Sickle Cell Anaemia

    African Journals Online (AJOL)

    Background: Sickle cell anaemia (SCA) is associated with delayed sexual maturation. The. Body Mass Index (BMI) or ... Key Words : Sexual maturation, Puberty, Sickle cell anaemia, Body Mass Index, Sex Maturity Ratings. Introduction. SEXUAL ..... haematological, socio-economic, nutritional, medicare, infections, trace ...

  19. Current And Future Diagnostics Of Anaemia

    NARCIS (Netherlands)

    K. Stouten (Karlijn)

    2016-01-01

    markdownabstractAnaemia is often encountered in general practice but the prevalence of the different aetiology remains elusive. We analysed a large database of general practice patients newly diagnosed with anaemia, allowing for the detailed study of the prevalence of a wide range of causes and a

  20. Dietary recommendations in patients with deficiency anaemia

    Directory of Open Access Journals (Sweden)

    A. Santoyo-Sánchez

    2015-07-01

    Nutritionists should understand deficiency anaemia, and physicians, particularly general practitioners, should be aware of dietary requirements. In this article, therefore, both health care professionals have come together to briefly explain, with examples, the type of diet that should be recommended to patients with deficiency anaemia.

  1. Preoperative Anaemia and Blood Transfusion Requirements in ...

    African Journals Online (AJOL)

    Background: Anaemia prevalence among children in Nigeria is a serious morbidity although it's prevalence in Benin has not been determined in recent times. The purpose of this study was to determine the prevalence of preoperative anaemia, its' associated factors and blood transfusion requirements in children ...

  2. Expert services for rare anaemias across Europe

    Directory of Open Access Journals (Sweden)

    Beatrice Gulbis

    2013-03-01

    Full Text Available New challenges and priorities are given in the EU Health programme 2007-2013. The objectives of the programme are to improve citizens’ health security, to promote health to improve prosperity and solidarity, and to generate and disseminate health knowledge. If challenges and priorities have been defined globally for rare diseases by the European Commission, persons involved in rare anaemias have taken the opportunity to contribute to the empowerment of patients with rare anaemias. One of the ENERCA partners objectives was the mapping of existing centres that take care of patients with rare anaemias in Europe. Another goal was to obtain a directory of facilities available per centre for patients with rare anaemias. We thought that with those results it could realistically help to define a consensus regarding the criteria to be recognised as a centre of expertise for haemoglobinopathies and very rare anaemias.

  3. Managing hereditary ovarian cancer

    NARCIS (Netherlands)

    Mourits, M. J.; de Bock, G. H.

    2009-01-01

    In this review we present an overview of recent developments in the management of hereditary ovarian cancer. Until recently, intensive screening of the ovaries was recommended to mutation carriers and their first-degree female relatives. However, since screening is not effective in detecting

  4. Hereditary periodic fever syndromes

    NARCIS (Netherlands)

    McDermott, MF; Frenkel, J

    Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

  5. Hereditary Angioedema in Childhood

    DEFF Research Database (Denmark)

    Kjaer, Line; Bygum, Anette

    2012-01-01

    Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history of r...

  6. Coexistence of gilbert syndrome and hereditary spherocytosis in a child presenting with extreme jaundice.

    Science.gov (United States)

    Lee, Jae Hee; Moon, Kyung Rye

    2014-12-01

    Gilbert syndrome is the most common inherited disorder of bilirubin glucuronidation. It is characterized by intermittent episodes of jaundice in the absence of hepatocellular disease or hemolysis. Hereditary spherocytosis is the most common inherited hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. The patients have variable degrees of anemia, jaundice, and splenomegaly. Hereditary spherocytosis usually leads to mild-to-moderate elevation of serum bilirubin levels. Severe hyperbilirubinemia compared with the degree of hemolysis should be lead to suspicion of additional clinical conditions such as Gilbert syndrome or thalassemia. We present the case of a 12-year-old boy with extreme jaundice and nausea. The diagnosis of hereditary spherocytosis was confirmed by osmotic fragility test results and that of Gilbert syndrome by genetic analysis findings.

  7. Fatigue and acute/chronic anaemia.

    Science.gov (United States)

    Bager, Palle

    2014-04-01

    Fatigue in patients with gastrointestinal (GI) diseases can be caused by several conditions and anaemia is one of them. Anaemia can be caused by acute GI bleeding, or it can appear in relation to more chronic conditions: iron deficiency anaemia (IDA) and/or anaemia of chronic disease (ACD). Acute anaemia due to acute upper GI bleedings (AUGIB) is often treated with blood transfusions and/or oral iron supplementations. The need for blood transfusions prior to endoscopic intervention has been well described in guidelines. However, guidelines for the monitoring and treatment of anaemia in patients after nonvariceal AUGIB are generally lacking. A retrospective study showed that more than 80% of patients were discharged from hospital with anaemia and less than 20% of them were recommended iron supplementations. Chronic anaemia in inflammatory bowel diseases (IBD) is well known. Anaemia can be caused by deficiency conditions (iron, folic acid or vitamin B12); chronic bleeding; inflammation or medication (or a combination of these). Fatigue in IBD is found in 40% of IBD patients, even with disease in remission. The PhD dissertation is based on two studies. 1. A randomised placebo controlled trial where patients were allocated to iron supplementation (oral or intravenous) or placebo. Patients with nonvariceal AUGIB and anaemia were included in the study (N = 97). The primary follow-up time was 13 weeks, followed by additional three months follow-up. 2. A cross-sectional study including Scandinavian outpatients with IBD. Five hospitals in Denmark, Norway and Sweden included consecutively 5% of their cohort of patients with IBD (N = 429). The aims were: 1. To investigate the effect of iron supplementation in patients who had anaemia after endoscopic intervention for AUGIB. Furthermore, to investigate the health-related quality of life (HRQoL) and fatigue in these patients. 2. To determine the prevalence and type of anaemia, iron deficiency (ID) and fatigue in an unselected

  8. Hematological outcome in neonatal alloimmune hemolytic disease

    NARCIS (Netherlands)

    Rath, Mirjam Eva Aafke

    2013-01-01

    This thesis focuses on several aspects related to the hematological outcome of infants with hemolytic disease of the fetus and newborn (HDFN) due to red blood cell alloimmunization, including pathogenesis and management of the disease. The presence of leukocytopenie and thrombocytopenia support the

  9. Autoimmune hemolytic anemia in chronic mucocutaneous candidiasis.

    OpenAIRE

    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,...

  10. South american rattlesnake venom: its hemolytic power

    Directory of Open Access Journals (Sweden)

    Édimo Garcia de Lima

    1989-12-01

    Full Text Available The hemolytic power of rattlesnake venom (Crotalus durissus terrificus was Studied. A high percentage of sample with negative hemolytic power was detected when sheep red blood cells were used. A large number of venoms with hemolytic power, though with a low hemolysis percentage, were detected when liquid, recently extracted venom was used. When crystallized venom was used under the same experimental conditions, a higher percentage ofpositivityfor hemolysis was obtained. When the results obtained on agar plates were compared to those obtained in test tubes, a large number of animals with a higher percentage of hemolysis were detected, though this value was not proportional to the number of animals showing positive plate hemolysis. When the hemolytic power of these venoms was tested on human red blood cells, a large percentage of animals with venoms having a low hemolytic power was also detected. Hemolytic power was much greater when human red blood cells were tested with crystallized venom. The preparation of red blood cells also had an important effect and the use of red blood cells from defibrinated blood is recommended. We conclude that rattlesnake venom has hemolytic power that increases when the venom is crystallized. Red blood cells should be properly preparedfor the lysis reactions. We suggest that the lytic power of the venom is related to venom concentration and to the purity of its fractions.Foi estudado o poder hemolitico do veneno da cascavel (Crotalus durissus terrificus. Encontrou-se grande número de suas frações sem capacidade de hemolisar eritrócitos de carneiro. O veneno "in natura", recentemente extraído, e em estado líquido tem pouca atividade litica. A cristalização do veneno aumenta sua concentração e poder lítico. Os resultados de hemólise do sangue de carneiro obtidos em placas e tubos foram comparados evidenciando um grande número de animais com venenos com alto poder hemolítico. Os valores não foram

  11. Prevalence of anaemia among school adolescent girls.

    Directory of Open Access Journals (Sweden)

    Neha Goyal

    2015-09-01

    Full Text Available Background: Anaemia is a major public health problem especially among adolescent females and can result in diminished physical growth and cognitive development, performance in school and at work, and affects reproduction. Findings from NFHS-3 (2005-06 indicate that 56% of the adolescent girls in India are anaemic and, of these 17% suffer from moderate to severe anaemia. Aim & Objective: To find the prevalence of anaemia among adolescent girls in rural and urban schools of Haldwani. Materials and Methods: A cross-sectional study was carried out in rural as well as urban schools of Haldwani from October 2012 to March 2014 among 770 (443 rural and 327 urban adolescent girls selected by multistage random sampling, using predesigned and pretested questionnaire to collect relevant data, and estimating haemoglobin concentration using Haemoglobin Colour Scale. Data was analysed by using SPSS v 20. Results: 48.18% of adolescent girls were found to have anaemia. Prevalence of anaemia was 43.11% and 55.04% among rural and urban school girls respectively. Mean haemoglobin concentration of study subjects was 11.35g/dl. Prevalence of mild, moderate and severe anaemia among study population was 34.53%, 10.13% and 3.52% respectively. Conclusion: The present study revealed that half of the school going adolescent girls were suffering from anaemia in rural and urban areas of Haldwani

  12. Hereditary Renal Diseases.

    Science.gov (United States)

    Mehta, Lakshmi; Jim, Belinda

    2017-07-01

    Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. We provide the nephrologist with a general strategy to approach hereditary disorders, which includes a discussion of commonly used genetic tests, a guide to genetic counseling, and reproductive options such as prenatal diagnosis or pre-implantation genetic diagnosis for at-risk couples. Finally, we review pregnancy outcomes in certain renal diseases. Copyright © 2017 Elsevier Inc. All rights reserved.

  13. Hereditary breast cancer

    DEFF Research Database (Denmark)

    Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie

    2014-01-01

    Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight...... into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing...... on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial non-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well...

  14. Hereditary neuropathies: An update.

    Science.gov (United States)

    Stojkovic, T

    2016-12-01

    Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability. Moreover, atypical phenotypes are arising, overlapping with spastic paraplegia, hereditary sensory neuropathies or amyotrophic lateral sclerosis. The causative genes are involved in various biological processes such as myelin development and maintenance, biosynthesis and degradation of proteins, neuronal structural maintenance, axonal transport, endocytosis, membrane dynamics, ion-channel function and the mitochondrial network. An accurate genetic diagnosis is important for appropriate genetic counselling and treatment options. Therapeutic advances, particularly small interfering RNA therapy, are encouraging in hereditary transthyretin amyloid neuropathy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  15. Anaemia and IBD - an overlooked problem?

    DEFF Research Database (Denmark)

    Jakobsen, Dorrit; Bager, Palle

      Aim: To evaluate the process of introducing screening tools and treatment algorithms' for anaemia: detection, management and monitoring for IBD patients in an outpatient setting.   Background: Prevalence of anaemia among IBD patients have wide estimates (8,8 % - 73,7%). A reduced production...... due to iron deficiency can be treated with oral- or intravenous iron replacement. To systematize management of anaemia in IBD patients' different tools has been developed at Aarhus University Hospital since 2006.   Patients and Methods: Data related to 111 IBD-patients treated with intravenous iron......-physicians. The monitoring form include registration of vital signs, administration of intravenous iron, quality of life assessments (QoL), disease activity and scheduled blood samples monitoring status of the anaemia. The monitoring form was completed by IBD nurses.   Results: Results based on a sample of one third...

  16. [Revised practice guideline 'Anaemia in midwifery practice'

    NARCIS (Netherlands)

    Beentjes, M.; Jans, S.M.P.J.

    2012-01-01

    The practice guideline of the Royal Dutch Organization of Midwives 'Anaemia in primary care midwifery practice' published in 2000, has recently been revised. The revised guideline takes physiological haemodilution during pregnancy into consideration and provides gestation specific reference values

  17. HFE-Associated Hereditary Haemochromatosis

    OpenAIRE

    Eijkelkamp, Emmeke J; Yapp, Thomas R; Powell, Lawrie W

    2000-01-01

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism. Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis gene (HFE) in 1996 and two candidate mutations; the C282Y mutation has been shown to be responsible for the majority of the hereditary hemochromatosis cases worldwide. The gene discovery has led ...

  18. Cerebral microcirculation during experimental normovolaemic anaemia

    Directory of Open Access Journals (Sweden)

    Judith eBellapart

    2016-02-01

    Full Text Available Anaemia is accepted amongst critically ill patients as an alternative to elective blood transfusion. This practice has been extrapolated to head injury patients with only one study comparing the effects of mild anaemia on neurological outcome. There are no studies quantifying microcirculation during anaemia. Experimental studies suggest that anaemia leads to cerebral hypoxia and increased rates of infarction, but the lack of clinical equipoise when testing the cerebral effects of transfusion amongst critically injured patients, supports the need of experimental studies. The aim of this study was to quantify cerebral microcirculation and the potential presence of axonal damage in an experimental model exposed to normovolaemic anaemia, with the intention of describing possible limitations within management practices in critically ill patients. Under non-recovered anaesthesia, six Merino sheep were instrumented using an intracardiac transeptal catheter to inject coded microspheres into the left atrium to ensure systemic and non-chaotic distribution. Cytometric analyses quantified cerebral microcirculation at specific regions of the brain. Amyloid precursor protein staining was used as an indicator of axonal damage. Animals were exposed to normovolaemic anaemia by blood extractions from the indwelling arterial catheter with simultaneous fluid replacement through a venous central catheter. Simultaneous data recording from cerebral tissue oxygenation, intracranial pressure and cardiac output was monitored. A regression model was used to examine the effects of anaemia on microcirculation with a mixed model to control for repeated measures. Homogeneous and normal cerebral microcirculation with no evidence of axonal damage was present in all cerebral regions, with no temporal variability, concluding that acute normovolaemic anaemia does not result in short term effects on cerebral microcirculation in the ovine brain.

  19. Genetics Home Reference: hereditary hyperekplexia

    Science.gov (United States)

    ... Neuromuscular Disorders Health Topic: Sudden Infant Death Syndrome Genetic and Rare Diseases Information Center (1 link) Hereditary hyperekplexia Additional NIH Resources (1 link) National Institute ...

  20. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Home Health Conditions Hereditary fructose intolerance Hereditary fructose intolerance Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Hereditary fructose intolerance is a condition that affects a person's ability ...

  1. Genetics Home Reference: hereditary diffuse gastric cancer

    Science.gov (United States)

    ... Health Conditions Hereditary diffuse gastric cancer Hereditary diffuse gastric cancer Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases ...

  2. Hemolytic uremic syndrome after bone marrow transplantation

    Energy Technology Data Exchange (ETDEWEB)

    Arai, Ayako; Sakamaki, Hisashi; Tanikawa, Shu [Tokyo Metropolitan Komagome Hospital (Japan)] [and others

    1998-06-01

    One hundred and thirteen patients who underwent autologous or allogeneic bone marrow transplantation (BMT) were investigated for the subsequent development of hemolytic uremic syndrome (HUS). HUS developed in seven patients (four males and three females, five acute lymphocytic leukemia (ALL), one acute myelogenous leukemia, one non-Hodgkin`s lymphoma) between 36-196 days after BMT. Four patients were recipients of autologous BMT and three were those of allogeneic BMT. Six patients were preconditioned with the regimens including fractionated total body irradiation (TBI). ALL and preconditioning regimen with TBI were suspected to be the risk factors for the development of HUS. Cyclosporin A (CSP) administration was discontinued in three patients who had been given CSP for graft-versus-host disease prophylaxis. Predonisolone was given to the three patients and plasma exchange was performed in one patient. Both hemolytic anemia and thrombocytopenia were resolved in virtually all patients, while creatinine elevation has persisted along with hypertension in one patient. (author)

  3. Hemolytic uremic syndrome and Clostridium difficile colitis

    Directory of Open Access Journals (Sweden)

    Maryam Keshtkar-Jahromi

    2012-10-01

    Full Text Available Hemolytic uremic syndrome (HUS can be associated with different infectious etiologies, but the relationship between pseudomembranous colitis and HUS was first described in the 1970s in some childhood patients. There is very limited published literature on Clostridium difficile-associated HUS. We report a case of C. difficile-related HUS in an adult patient and provide a review of the literature.

  4. HEMOLYTIC ANEMIA IMUNNE-MEDIATED IN DOGS

    Directory of Open Access Journals (Sweden)

    R. C. Castilho

    2016-11-01

    Full Text Available Due to the reduction in the number of red blood cells, caused by the immune system, the immune-mediated hemolytic anemia (IMHA is the most common disease among the hemolytic anemias and occurs more frequently in dogs (Nelson & Couto, 2010, wherein the most affected breeds are Cocker Spaniel, Poodle, Doberman and Collie (ETTINGER; FELDMAN 2004; THRALL et al 2007.. There is no pathognomonic sign for the diagnosis of the immune-mediated hemolytic anemia; however, laboratory findings show regenerative anemia, spherocytosis, positive results in Coombs' test and rarely, monocytes with hemosiderin or erythrocytes phagocytosis, but even with these findings, the primary and secondary IMHA can not be differentiate from each other. Differentiation can only be achieved when there is a deep investigation into the cause of the anemia. The IMHA therapeutics starts with the support treatment and follows with an immunosuppressive therapy. In relation to IMHA Mortality rates, the numbers range from 25% to 50% (Thrall, 2007, or above 70% (CARR; Panciera; Kidd, 2002.

  5. Incidence and patterns of hemolytic anemia in acute dapsone overdose.

    Science.gov (United States)

    Cha, Yong Sung; Kim, Hyun; Kim, Juwon; Kim, Oh Hyun; Kim, Hyung Il; Cha, KyoungChul; Lee, Kang Hyun; Hwang, Sung Oh

    2016-03-01

    Hemolytic anemia is one of the complications related to the chronic consumption of dapsone. However, in acute dapsone overdose, there have been few case reports regarding hemolytic anemia. Herein, we reported the prevalence and patterns of hemolytic anemia in acute dapsone overdose, and compared clinical features including mortality in the non-hemolytic anemia and the hemolytic anemia groups. We conducted a retrospective review of 43 consecutive acute dapsone overdose cases that were diagnosed and treated at the emergency department of the Wonju Severance Christian Hospital between January 2006 and January 2014. There were 13 male patients (30.2%) and the ages of all patients ranged from 18 to 93 years with a median of 67 years. The ingested dose varied from a minimum of two 100-mg tablet to a maximum of twenty five 100-mg tablets. All patients had methemoglobinemia irrespective of the presence of hemolytic anemia. Among 43 patients, 30 patients (69.8%) were shown to have hemolytic anemia and hemolytic anemia developed the day after admission and persisted for more than 6 days after admission. Even though mortality rate was not significantly higher in the hemolytic anemia group, the hemolytic anemia group had significantly longer total admission and intensive care unit admission stays than the non-hemolytic group. A significant proportion of the patients with acute dapsone overdose is associated with occurrence of hemolytic anemia. Hemolytic anemia may be developed the day after admission and persisted for more than 6 days after admission. Therefore, monitoring of serum hemoglobin level is necessary. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Iron Refractory Iron Deficiency Anaemia: A Rare Cause of Iron Deficiency Anaemia

    LENUS (Irish Health Repository)

    McGrath, T

    2018-01-01

    We describe the case of a 17-month-old boy with a hypochromic microcytic anaemia, refractory to oral iron treatment. After exclusion of dietary and gastrointestinal causes of iron deficiency, a genetic cause for iron deficiency was confirmed by finding two mutations in the TMPRSS6 gene, consistent with a diagnosis of iron-refractory iron deficiency anaemia (IRIDA).

  7. Loss of Dynamin 2 GTPase function results in microcytic anaemia.

    Science.gov (United States)

    Brown, Fiona C; Collett, Michael; Tremblay, Cedric S; Rank, Gerhard; De Camilli, Pietro; Booth, Carmen J; Bitoun, Marc; Robinson, Phillip J; Kile, Benjamin T; Jane, Stephen M; Curtis, David J

    2017-08-01

    In a dominant mouse ethylnitrosurea mutagenesis screen for genes regulating erythropoiesis, we identified a pedigree with a novel microcytic hypochromia caused by a V235G missense mutation in Dynamin 2 (Dnm2). Mutations in Dnm2, a GTPase, are highly disease-specific and have been implicated in four forms of human diseases: centronuclear myopathy, Charcot-Marie Tooth neuropathy and, more recently, T-cell leukaemia and Hereditary Spastic Paraplegia, but red cell abnormalities have not been reported to date. The V235G mutation lies within a crucial GTP nucleotide-binding pocket of Dnm2, and resulted in defective GTPase activity and incompatibility with life in the homozygous state. Dnm2 is an essential mediator of clathrin-mediated endocytosis, which is required for the uptake of transferrin (Tf) into red cells for incorporation of haem. Accordingly, we observed significantly reduced Tf uptake by Dnm2(+/V235G) cells, which led to impaired endosome formation. Despite these deficiencies, surprisingly all iron studies were unchanged, suggesting an unexplained alternative mechanism underlies microcytic anaemia in Dnm2(+/V235G) mice. This study provides the first in vivo evidence for the requirements of Dnm2 in normal erythropoiesis. © 2017 John Wiley & Sons Ltd.

  8. Blood transfusion for the treatment of acute anaemia in inflammatory bowel disease and other digestive diseases

    Science.gov (United States)

    García-Erce, José Antonio; Gomollón, Fernando; Muñoz, Manuel

    2009-01-01

    Allogeneic blood transfusion (ABT) is frequently used as the first therapeutic option for the treatment of acute anaemia in patients with inflammatory bowel disease (IBD), especially when it developed due to gastrointestinal or perioperative blood loss, but is not risk-free. Adverse effects of ABT include, but are not limited to, acute hemolytic reaction (wrong blood or wrong patient), febrile non-hemolytic transfusional reaction, bacterial contamination, transfusion-related acute lung injury, transfusion associated circulatory overload, transfusion-related immuno-modulation, and transmission of almost all infectious diseases (bacteria, virus, protozoa and prion), which might result in increased risk of morbidity and mortality. Unfortunately, the main physiological goal of ABT, i.e. to increase oxygen consumption by the hypoxic tissues, has not been well documented. In contrast, the ABT is usually misused only to increase the haemoglobin level within a fixed protocol [mostly two by two packed red blood cell (PRC) units] independently of the patient’s tolerance to normovolemic anaemia or his clinical response to the transfusion of PRC units according to a “one-by-one” administration schedule. Evidence-based clinical guidelines may promote best transfusion practices by implementing restrictive transfusion protocols, thus reducing variability and minimizing the avoidable risks of transfusion, and the use of autologous blood and pharmacologic alternatives. In this regard, preoperative autologous blood donation (PABD) consistently diminished the frequency of ABT, although its contribution to ABT avoidance is reduced when performed under a transfusion protocol. In addition, interpretation of utility of PABD in surgical IBD patients is hampered by scarcity of published data. However, the role of autologous red blood cells as drug carriers is promising. Finally, it must be stressed that a combination of methods used within well-constructed protocols will offer better

  9. Clinical Outcomes of Splenectomy in Children: Report of the Splenectomy in Congenital Hemolytic Anemia (SICHA) Registry

    Science.gov (United States)

    Rice, Henry E; Englum, Brian R; Rothman, Jennifer; Leonard, Sarah; Reiter, Audra; Thornburg, Courtney; Brindle, Mary; Wright, Nicola; Heeney, Matthew M; Smithers, Charles; Brown, Rebeccah L; Kalfa, Theodosia; Langer, Jacob C; Cada, Michaela; Oldham, Keith T; Scott, J Paul; St. Peter, Shawn; Sharma, Mukta; Davidoff, Andrew M.; Nottage, Kerri; Bernabe, Kathryn; Wilson, David B; Dutta, Sanjeev; Glader, Bertil; Crary, Shelley E; Dassinger, Melvin S; Dunbar, Levette; Islam, Saleem; Kumar, Manjusha; Rescorla, Fred; Bruch, Steve; Campbell, Andrew; Austin, Mary; Sidonio, Robert; Blakely, Martin L

    2014-01-01

    The outcomes of children with congenital hemolytic anemia (CHA) undergoing total splenectomy (TS) or partial splenectomy (PS) remain unclear. In this study, we collected data from 100 children with CHA who underwent TS or PS from 2005–2013 at 16 sites in the Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium using a patient registry. We analyzed demographics and baseline clinical status, operative details, and outcomes at 4, 24, and 52 weeks after surgery. Results were summarized as hematologic outcomes, short-term adverse events (AEs) (≤ 30 days after surgery), and long-term AEs (31–365 days after surgery). For children with hereditary spherocytosis, after surgery there was an increase in hemoglobin (baseline 10.1 ± 1.8 gm/dl, 52 week 12.8 ± 1.6 gm/dl; mean ± SD), decrease in reticulocyte and bilirubin as well as control of symptoms. Children with sickle cell disease had control of clinical symptoms after surgery, but had no change in hematologic parameters. There was an 11% rate of short-term AEs and 11% rate of long-term AEs. As we accumulate more subjects and longer follow-up, use of a patient registry should enhance our capacity for clinical trials and engage all stakeholders in the decision-making process. PMID:25382665

  10. Canine hereditary ataxia.

    Science.gov (United States)

    Urkasemsin, Ganokon; Olby, Natasha J

    2014-11-01

    The hereditary ataxias are a group of neurodegenerative diseases that cause a progressive (or episodic) cerebellar ataxia. A large number of different disorders have been described in different breeds of purebred dog, and in some instances, more than one disorder occurs in a single breed, creating a confusing clinical picture. The mutations associated with these disorders are being described at a rapid rate, potentially changing our ability to prevent, diagnose, and treat affected dogs. A breed-related neurodegenerative process should be suspected in any pure bred dog with slowly progressive, symmetric signs of ataxia. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Hereditary angioedema in women

    Directory of Open Access Journals (Sweden)

    Bouillet Laurence

    2010-07-01

    Full Text Available Abstract Women with hereditary angioedema (HAE are more likely to be symptomatic that men. Hormonal factors (puberty, contraception, pregnancy,.... play a significant role in the precipitation or worsening of the condition in women. So, combined contraceptive pills are not indicated and progestogen pill must be preferred. During pregnancy, attack rate can increase (38-48% of women. C1Inhibitor concentrate and tranexamic acid can be used during pregnancy. Attenuated androgens for long term prophylaxis are effective but side effects appear more often in female patients. These side effects are dose dependant and can be attenuated by titrating the dose down the lowest effective level.

  12. HFE-associated hereditary hemochromatosis

    NARCIS (Netherlands)

    Eijkelkamp, EJ; Yapp, TR; Powell, LW

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis

  13. EAMJ Oct Hereditary.indd

    African Journals Online (AJOL)

    HEREDITARY GINGIVAL FIBROMATOSIS: REPORT OF FAMILY CASE SERIES. E. G. WAGAIYU, R. N. NG'ANG'A and A. M. KEMOLI. SUMMARY. Hereditary gingival hyperplasia (HGF) is a rare condition characterised by hyperplastic, dense fibrous connective tissue with acanthotic gingival epithelium. A family presented.

  14. Hemolytic Uremic Syndrome Associated with Pneumococcal Pneumonia. A Case Report

    OpenAIRE

    Ariel Efrén Uriarte Méndez; Andrés Prieto Apesteguía; Jesús Vila Díaz; Jorge Luis Capote Padrón; Kendrie Villavicencio Cardoso; Alnilam Fernández González

    2013-01-01

    Hemolytic uremic syndrome is a condition characterized by hemolytic microangiopathic anemia, thrombocytopenia and acute renal failure. In its classic form it is associated with diarrhea and it has a good prognosis. When there is an invasive pneumococcal disease as underlying condition, it has a mortality rate of 25%, and half of the surviving cases develop end-stage renal disease (ESRD). We present the case of a 17-month-old child with hemolytic uremic syndrome secondary to pneumonia with emp...

  15. Alpha thalassemia among sickle cell anaemia patients in Kampala ...

    African Journals Online (AJOL)

    thalassaemia is known to modulate sickle cell anaemia, its magnitude and significance in Uganda have hitherto not been described. Objectives: To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago ...

  16. Sickle cell anaemia and the NBT test

    Science.gov (United States)

    Walters, Thomas R.; Reddy, B. Narasimha

    1974-01-01

    Patients with sickle cell anaemia have an increased susceptibility to bacterial infections Previous reports of false-negative nitro blue tetrazolium (NBT) tests in the presence of bacteria infection and of a faulty phagocytic response following stimulation in vitro have suggested the possibility of polymorphonuclear dysfunction in certain patients with sickle cell anaemia. In the present study an unstimulated, histochemical NBT technique was used to evaluate the test in patients with sickle cell anaemia. There was a significant difference between the results in the group of patients with infection (mean NBT-positive cells 42·7%) compared to those without infection (mean 9·4%). There was no significant correlation between the total white blood cell count, absolute number of polymorphonuclear cells, and infectious complications. These findings indicate an appropriate polymorphonuclear cell response, as evaluated by the NBT test, in patients with sickle cell anaemia and bacterial infection. The NBT test may be used as an additional parameter in the differentiation of those patients with sickle cell anaemia with bacterial infection. PMID:4426971

  17. Diagnosis and classification of autoimmune hemolytic anemia.

    Science.gov (United States)

    Bass, Garrett F; Tuscano, Emily T; Tuscano, Joseph M

    2014-01-01

    Uncompensated autoantibody-mediated red blood cell (RBC) consumption is the hallmark of autoimmune hemolytic anemia (AIHA). Classification of AIHA is pathophysiologically based and divides AIHA into warm, mixed or cold-reactive subtypes. This thermal-based classification is based on the optimal autoantibody-RBC reactivity temperatures. AIHA is further subcategorized into idiopathic and secondary with the later being associated with a number of underlying infectious, neoplastic and autoimmune disorders. In most cases AIHA is confirmed by a positive direct antiglobulin test (DAT). The standard therapeutic approaches to treatment of AIHA include corticosteroids, splenectomy, immunosuppressive agents and monoclonal antibodies. Published by Elsevier B.V.

  18. Anaemia in patients with rheumatoid arthritis at the Kenyatta ...

    African Journals Online (AJOL)

    Background: Anaemia is the commonest extra articular manifestation of Rheumatoid Arthritis (RA). Anaemia is an independent predictor of morbidity and mortality in the population. When RA is complicated by anaemia it is associated with a more severe disease and significant reduction in the quality of life in the affected ...

  19. Anaemia among patients with congestive cardiac failure in Uganda ...

    African Journals Online (AJOL)

    Background. Anaemia increases morbidity and mortality in patients with congestive cardiac failure (CCF). Few studies have examined the prevalence of anaemia and its impact among patients with CCF in sub-Saharan Africa. We assessed the prevalence of anaemia and its influence on treatment outcome in patients with ...

  20. Prevalence and predictors of anaemia among patients presenting ...

    African Journals Online (AJOL)

    Background: Anaemia is a common complication that contributes to the burden of kidney diseases. Anaemia confers significant risk of cardiovascular disease and contributes to decreased quality of life. While the primary cause of anaemia is the inadequate production of erythropoietin by the kidneys to support ...

  1. Iron deficiency anaemia among apparently healthy pre-school ...

    African Journals Online (AJOL)

    Conclusion: The overall prevalence of iron deficiency anaemia among study subjects was 10.11%. Iron deficiency anaemia was more common in children aged two years and below. Weight-for-age and weight-for-height Z scores below minus two standard scores were strongly associated with iron deficiency anaemia.

  2. Leishmaniasis presenting as severe anaemia in an adult female ...

    African Journals Online (AJOL)

    Visceral leishmaniasis is a rare cause of anaemia. We report a case of visceral leishmaniasis presenting as severe anaemia and pyrexia of unknown origin in an adult female Nigerian. The objective was to highlight the importance of exhaustive investigations in the diagnosis of anaemia and pyrexia of unknown origin in our ...

  3. Maternal knowledge and practices related to anaemia and iron ...

    African Journals Online (AJOL)

    Anaemia is a leading cause of maternal morbidity, mortality and poor birth outcomes in developing countries. In Malawi, education on anaemia and provision of prophylaxis iron supplements during pregnancy are key strategies that are used to reduce the high prevalence of anaemia in this population. Therefore, as part of

  4. Anaemia in Pregnancy in Abia State University Teaching Hospital, Aba

    African Journals Online (AJOL)

    A prospective study of incidence of anaemia in pregnancy at Abia state University Teaching Hospital, Aba was conducted over a six-month period spanning from 31st January 2000 to 31st July 2000. The incidence of anaemia in pregnancy was 29%. The vast majority (97.6%) had mild anaemia. The result showed that most ...

  5. Anaemia among pregnant women in northern Tanzania: prevalence ...

    African Journals Online (AJOL)

    Control of maternal anaemia may be one important strategy to prevent LBW in this setting. Measures to prevent malaria and to control anaemia among all pregnant women irrespective of HIV status, should be strengthened. Outside of the health sector broader approaches for anaemia prevention targeting women of lower ...

  6. Anaemia among HIV infected children attending care and treatment ...

    African Journals Online (AJOL)

    Introduction: Anaemia is common among HIV infected patients; causes of anaemia in these patients are multifactorial. Anemia is noted as one of important predictors of outcome in HIV infected patients. Tis study was carried out to determine the prevalence of anaemia among HIV infected children attending HIV clinic at ...

  7. Fasciculations in human hereditary disease.

    Science.gov (United States)

    Finsterer, Josef; Aliyev, Rahim

    2015-06-01

    Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fasciculations occur in hereditary and non-hereditary diseases. Among the hereditary diseases, fasciculations are most frequently reported in familial amyotrophic lateral sclerosis (FALS), and spinal muscular atrophy (SMA). Among the non-hereditary diseases, fasciculations occur most frequently in peripheral nerve hyperexcitability syndromes (Isaac's syndrome, voltage-gated potassium channelopathy, cramp fasciculation syndrome, Morvan syndrome). If the cause of fasciculations remains unknown, they are called benign. Systematically reviewing the literature about fasciculations in hereditary disease shows that fasciculations can be a phenotypic feature in bulbospinal muscular atrophy (BSMA), GM2-gangliosidosis, triple-A syndrome, or hereditary neuropathy. Additionally, fasciculations have been reported in familial amyloidosis, spinocerebellar ataxias, Huntington's disease, Rett syndrome, central nervous system disease due to L1-cell adhesion molecule (L1CAM) mutations, Fabry's disease, or Gerstmann-Sträussler disease. Rarely, fasciculations may be a phenotypic feature in patients with mitochondrial disorders or other myopathies. Fasciculations are part of the phenotype in much more genetic disorders than commonly assumed. Fasciculations not only occur in motor neuron disease, but also in hereditary neuropathy, spinocerebellar ataxia, GM2-gangliosidosis, Huntington's disease, Rett syndrome, Fabry's disease, Gerstmann-Sträussler disease, mitochondrial disorders, or muscular dystrophies.

  8. Hereditary pancreatitis for the endoscopist

    Science.gov (United States)

    Patel, Milan R.; Eppolito, Amanda L.

    2013-01-01

    Hereditary pancreatitis shares a majority of clinical and morphologic features with chronic alcoholic pancreatitis, but may present at an earlier age. The term hereditary pancreatitis has primarily been associated with mutations in the serine protease 1 gene (PRSS1) which encodes for cationic trypsinogen. PRSS1 mutations account for approximately 68–81% of hereditary pancreatitis. Mutations in other genes, primarily serine protease inhibitor Kazal type 1 (SPINK1) and the cystic fibrosis transmembrane conductance regulator (CFTR) are also associated with hereditary pancreatitis. While chronic alcoholic pancreatitis may develop in the fourth or fifth decades, patients with hereditary pancreatitis may develop symptoms in the first or second decades of life. Hereditary pancreatitis is diagnosed either by detecting a causative gene mutation or by the presence of chronic pancreatitis in two first-degree or three second-degree relatives, in two or more generations, without precipitating factors and with a negative workup for known causes. Patients with hereditary pancreatitis may have recurrent acute pancreatitis and may develop pancreatic exocrine and endocrine insufficiency. Hereditary pancreatitis may involve premature trypsinogen activation or decreased control of trypsin. Recurrent inflammation can lead to acute pancreatitis and subsequently to chronic pancreatitis with parenchymal calcification. There is a markedly increased risk of pancreatic carcinoma compared with the general population. Patients are often referred for evaluation of pancreatitis, biliary or pancreatic ductal dilatation, jaundice, biliary obstruction, pancreatic duct stone or stricture, pancreatic pseudocysts, and for evaluation for malignancy. Medical treatment includes pancreatic enzyme supplementation, nutritional supplementation, diabetes management, and palliation of pain. Patients should avoid tobacco use and alcohol exposure. Hereditary pancreatitis is reviewed and recommendations for

  9. [Hereditary and familial colorectal cancer].

    Science.gov (United States)

    Balaguer, Francesc

    2014-09-01

    Up to 5% of all colorectal cancer cases are caused by a known hereditary syndrome. These hereditary types often need a higher degree of clinical suspicion to be diagnosed and require specific and specialized management. In addition, diagnosing hereditary colorectal cancer has significant consequences not only for the patient, for whom there are effective preventative measures, but also for their families, who could be carriers of the condition. The most significant advances in the field of colorectal cancer have come from the diagnosis and characterization of these syndromes. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  10. Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report.

    Science.gov (United States)

    Korkmaz, Uğur; Duman, Ali Erkan; Oğütmen Koç, Deniz; Gürbüz, Yeşim; Dındar, Gökhan; Ensaroğlu, Fatih; Sener, Selçuk Yusuf; Sentürk, Omer; Hülagü, Sadettin

    2011-08-01

    Dubin-Johnson syndrome is a chronic, benign, intermittent jaundice, mostly of conjugated hyperbilirubinemia. The level of bilirubin is not expected to be more than 20 mg/dl in this syndrome. In this article, we report a patient who was evaluated for hyperbilirubinemia and liver function test abnormalities and diagnosed with Dubin-Johnson syndrome coexisting with hereditary spherocytosis. We suggest that other diseases should be investigated if patients with Dubin-Johnson syndrome present with severe hyperbilirubinemia. Dubin-Johnson syndrome accompanied by hemolytic diseases might also have high coproporphyrin levels (as in Rotor's syndrome) than expected in pure Dubin-Johnson syndrome.

  11. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

    2001-12-01

    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  12. Hereditary colorectal cancer diagnostics

    DEFF Research Database (Denmark)

    Klarskov, Louise; Holck, Susanne; Bernstein, Inge

    2012-01-01

    BackgroundThe hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease......-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid...... in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain.Objective and methodsTo perform a detailed morphological evaluation of HNPCC-associated colorectal cancers and demonstrate significant differences between tumours associated with FCCTX...

  13. Hereditary Fructose Intolerance

    Directory of Open Access Journals (Sweden)

    N.V. Nagornaya

    2014-06-01

    Full Text Available Hereditary fructose intolerance, the prevalence of which is 1 : 20,000 population, is diagnosed much less frequently than is found in child and adult populations. Presented pathology is caused by a deficiency in ferment aldolase B and block of fructose transformation in the gastrointestinal tract with the accumulation of unprocessed fructose in the intestine, manifesting by characteristic symptom and numerous biochemical changes in the body. The disease is asymptomatic until a person begins to use fructose, sucrose or sorbitol. This article describes the fructose metabolism, genetic aspects of the discussing disease, the diversity of its clinical manifestations. The authors presented modern diagnostic criteria and international approaches to diet therapy.

  14. Autoimmune hemolytic anemia: transfusion challenges and solutions

    Directory of Open Access Journals (Sweden)

    Barros MM

    2017-03-01

    Full Text Available Melca M O Barros, Dante M Langhi Jr, José O Bordin Department of Clinical and Experimental Oncology, Universidade Federal de São Paulo, São Paulo, Brazil Abstract: Autoimmune hemolytic anemia (AIHA is defined as the increased destruction of red blood cells (RBCs in the presence of anti-RBC autoantibodies and/or complement. Classification of AIHA is based on the optimal auto-RBC antibody reactivity temperatures and includes warm, cold-reactive, mixed AIHA, and drug-induced AIHA subtypes. AIHA is a rare disease, and recommendations for transfusion are based mainly on results from retrospective data and relatively small cohort studies, including heterogeneous patient samples or single case reports. In this article, we will review the challenges and solutions to safely transfuse AIHA patients. We will reflect on the indication for transfusion in AIHA and the difficulty in the accomplishment of immunohematological procedures for the selection of the safest and most compatible RBC units. Keywords: hemolytic anemia, RBC autoantibodies, autoimmunity, hemolysis, direct ­antiglobulin test

  15. Immunotherapy Treatments of Warm Autoimmune Hemolytic Anemia

    Directory of Open Access Journals (Sweden)

    Bainan Liu

    2013-01-01

    Full Text Available Warm autoimmune hemolytic anemia (WAIHA is one of four clinical types of autoimmune hemolytic anemia (AIHA, with the characteristics of autoantibodies maximally active at body temperature. It produces a variable anemia—sometimes mild and sometimes severe. With respect to the absence or presence of an underlying condition, WAIHA is either idiopathic (primary or secondary, which determines the treatment strategies in practice. Conventional treatments include immune suppression with corticosteroids and, in some cases, splenectomy. In recent years, the number of clinical studies with monoclonal antibodies and immunosuppressants in the treatment of WAIHA increased as the knowledge of autoimmunity mechanisms extended. This thread of developing new tools of treating WAIHA is well exemplified with the success in using anti-CD20 monoclonal antibody, Rituximab. Following this success, other treatment methods based on the immune mechanisms of WAIHA have emerged. We reviewed these newly developed immunotherapy treatments here in order to provide the clinicians with more options in selecting the best therapy for patients with WAIHA, hoping to stimulate researchers to find more novel immunotherapy strategies.

  16. Hemolytic anemia caused by kinking of dacron grafts implanted in ...

    African Journals Online (AJOL)

    Background: Hemolytic anemia caused by a kinked Dacron graft is a rare complication after repair of acute aortic dissection. We present a case of hemolytic anemia due to kinking of previously implanted Dacron graft for ascending aorta dissection treated by surgery and replaced with new Dacron. Case Details: We report a ...

  17. High dose intravenous immunoglobulin in Rh and ABO hemolytic ...

    African Journals Online (AJOL)

    Ehab

    INTRODUCTION. Hemolytic disease of the newborn (HDN) due to red cell alloimmunisation is an important cause of hyperbilirubinemia with significant morbidity in the neonatal period.1,2. Hemolytic disease of the newborn has unfortunately continued to contribute to perinatal and neonatal morbidity and mortality in.

  18. Hereditary iron and copper deposition

    DEFF Research Database (Denmark)

    Aaseth, Jan; Flaten, Trond Peder; Andersen, Ole

    2007-01-01

    Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5%, about...

  19. A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis

    Science.gov (United States)

    Iolascon, Achille; De Falco, Luigia; Borgese, Franck; Esposito, Maria Rosaria; Avvisati, Rosa Anna; Izzo, Pietro; Piscopo, Carmelo; Guizouarn, Helene; Biondani, Andrea; Pantaleo, Antonella; De Franceschi, Lucia

    2009-01-01

    Background Stomatocytoses are a group of inherited autosomal dominant hemolytic anemias and include overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis, hereditary cryohydrocytosis and familial pseudohyperkalemia. Design and Methods We report a novel variant of hereditary stomatocytosis due to a de novo band 3 mutation (p. G796R-band3 CEINGE) associated with a dyserythropoietic phenotype. Band 3 genomic analysis, measurement at of hematologic parameters and red cell indices and morphological analysis of bone marrow were carried out. We then evaluated the red cell membrane permeability and ion transport systems by functional studies of the patient’s erythrocytes and Xenopus oocytes transfected with mutated band 3. We analyzed the red cell membrane tyrosine phosphorylation profile and the membrane association of the tyrosine kinases Syk and Lyn from the Src-family-kinase group, since the activity of the membrane cation transport pathways is related to cyclic phosphorylation-dephosphorylation events. Results The patient showed mild hemolytic anemia with circulating stomatocytes together with signs of dyserythropoiesis. Her red cells displayed increased Na+ content with decreased K+content and abnormal membrane cation transport activities. Functional characterization of band 3 CEINGE in Xenopus oocytes showed that the mutated band 3 is converted from being an anion exchanger (Cl−, HCO3−) to being a cation pathway for Na+ and K+. Increased tyrosine phosphorylation of some red cell membrane proteins was observed in diseased erythrocytes. Syk and Lyn membrane association was increased in the patient’s red cells compared to in normal controls, indicating perturbation of phospho-signaling pathways involved in cell volume regulation events. Conclusions Band 3 CEINGE alters function from that of anion exchange to cation transport, affects the membrane tyrosine phosphorylation profile, in particular of band 3 and stomatin, and its presence

  20. WITH CHRONIC ANAEMIA: A CASE REPORT

    African Journals Online (AJOL)

    he developed chronic anaemia and cardiac ... manifestation of intussusception in adult. CASE REPORT. A 45 year old man presented with recurrent central abdominal pain and swelling of 2 years duration. The pain ... Correspondences to: Dr. M. M. Dauda, Department of Surgery, A. B. U. Teaching Hospital, Zaria,. Nigeria ...

  1. prevalence of parasitaemia, anaemia and treatment outcomes

    African Journals Online (AJOL)

    User

    anaemia among school children is high and warrants investment to reduce these levels. These findings could be a reflection of the ... 2012 Kwame Nkrumah University of Science and Technology (KNUST). Journal of Science and Technology, ... when children are of school-going age can boost attendance and educational ...

  2. Anaemia in Apparently Healthy Adult Nigerians | Olayemi ...

    African Journals Online (AJOL)

    Background: There is a direct relationship between health and social position, especially between anaemia, level of education and social development. I t has been reported that apparently healthy, fully ambulatory individuals could have low haematocrit. In the recent past, there have been attempts at correlating the ...

  3. Demographic and Sociocultural Characteristics of Sickle Anaemia ...

    African Journals Online (AJOL)

    Significantly highernumber of people fromlowest socioeconomic class practice scarification (p=0.0001). Demographic and sociocultural factors do not appear to influence the prevalence of HBsAg among childrenwith SCAinEnugu,Nigeria. Sickle cell anaemia; Hepatitis B surface antigenaemia, Demographic, Sociocultural ...

  4. Factors associated with anaemia status and haemoglobin ...

    African Journals Online (AJOL)

    The data presented here includes anthropometry, malaria parasitism, concentrations of haemoglobin (Hb) and serum transferrin receptor (STfR), and ... These results shed light on the specific causes of anaemia in the Zambian context, and illustrate the importance of improving dietary quality, specifically the intake of iron, ...

  5. Nitrate induced anaemia in home dialysis patients

    Energy Technology Data Exchange (ETDEWEB)

    Salvadori, M.; Martinelli, F.; Comparini, L.; Bandini, S.; Sodi, A.

    1985-01-01

    Many home dialysis patients in Florence and the surrounding area suddenly showed an unusual anaemia. All used a softener for water treatment. They demonstrated methaemoglobinaemia, Heinz bodies and reduction in plasma haptoglobin indicating Hb oxidation. Tap water analysis showed excessive nitrates. The substitution of the softeners with deionisers solved this important and unusual clinical problem.

  6. Anaemia in Yankassa Rams Infected with Trypanosoma ...

    African Journals Online (AJOL)

    One of the most consistent features of trypanosomiasis in any parasite host. The main objective of this study was to therefore evaluate the bone marrow responses to anaemia, generated in Yankassa rams infected with three most common trypanosomes species (T. congolense, T. vivax and T. brucei), affecting Nigerian ...

  7. Osteopoikilosis associated with keloids formation, rheumatoid arthritis, myasthenia, Graves` disease and megaloblastic anaemia

    Directory of Open Access Journals (Sweden)

    Irena Zimmermann-Górska

    2014-06-01

    Full Text Available Osteopoikilosis is an uncommon hereditary dysplasia of skeleton characterized by small sclerotic foci clustered mainly in periarticular osseus regions. The radiographic pattern is pathognomonic. The disease can be a result of the loss-of-function mutations in LEMD3 – the gene responsible for bone density which can influence also on the expression of transforming growth factor β1 (TGF-β1 signalling. TGF-β1 is a key mediator of fibrosis and a modulator of immune responses. Patients with osteopoikilosis demonstrate a higher incidence of keloid formation and autoimmune diseases. In the presented case osteopoikilosis was associated with keloids formation and autoimmune diseases: rheumatoid arthritis, myasthenia, Graves’ disease and megaloblastic anaemia.

  8. Hemolytic-Uremic Syndrome in childhood.

    Science.gov (United States)

    Vaisbich, Maria Helena

    2014-01-01

    There is a group of diseases that may manifest with thrombotic microangiopathy and present clinical overlap. Among these we emphasize the thrombotic thrombocytopenic purpura and Hemolytic Uremic Syndrome, and the latter can occur by the action of toxins, systemic diseases, overactivation of the alternative complement system pathway, which can occur due to changes in regulatory proteins (atypical HUS) and finally, idiopathic. You must carry out a series of tests to differentiate them. aHUS is a diagnosis of exclusion of other causes of MAT. The treatment of aHUS with plasma therapy, results in most cases with good shortterm response, especially hematological; however, it is a progressive and devastating disease and can lead to death and terminal chronic renal disease. Treatment with plasma displays great recurrence of long-term disease and renal insufficiency. Eculizumab, a monoclonal antibody anti-C5, has been associated with hematological remission, benefits on renal function and no need of plasma therapy.

  9. Hereditary Renal Cancer Syndromes

    Science.gov (United States)

    Haas, Naomi B.

    2013-01-01

    Inherited susceptibility to kidney cancer is a fascinating and complex topic. Our knowledge about types of genetic syndromes associated with an increased risk of disease is continually expanding. Currently, there are 10 syndromes associated with an increased risk of all types of renal cancer, which are reviewed herein. Clear cell renal cancer is associated with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome and mutations in BAP1, as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D). Type 1 papillary renal cancers arise in conjunction with germline mutations in MET and type 2 as part of Hereditary Leiomyomatosis and Renal Cell Cancer (FH mutations). Chromophone and oncocytic renal cancers are predominantly associated with Birt Hogg Dubé syndrome. Angiomyolipomas are commonly and their malignant counterpart epitheliod angiomyolipomas rarely are found in patients with Tuberous Sclerosis Complex. The targeted therapeutic options for the renal cancer associated with these diseases are just starting to expand, and are an area of active clinical research. PMID:24359990

  10. The role of complement activation in thrombosis and hemolytic anemias.

    Science.gov (United States)

    Chapin, John; Terry, Hunter S; Kleinert, Dorothy; Laurence, Jeffrey

    2016-04-01

    The objective of this study was to describe complement activation in hemostatic and pathologic states of coagulation and in the acquired and congenital hemolytic anemias. We review published and emerging data on the involvement of the classic, alternative and lectin-based complement pathways in coagulation and the hemolytic anemias. The alternative pathway in particular is always "on," at low levels, and is particularly sensitive to hyper-activation in a variety of physiologic and pathologic states including infection, autoimmune disorders, thrombosis and pregnancy, requiring tight control predicated on a variety of soluble and membrane bound regulatory proteins. In acquired hemolytic anemias such as paroxysmal nocturnal hemoglobinuria (PNH) and cold agglutinin disease (CAD), the complement system directly induces red blood cell injury, resulting in intravascular and extravascular hemolysis. In congenital hemolytic anemias such as sickle cell disease and β-thalassemia, the complement system may also contribute to thrombosis and vascular disease. Complement activation may also lead to a storage lesion in red blood cells prior to transfusion. Complement pathways are activated in hemolytic anemias and are closely linked with thrombosis. In acquired disorders such as PNH and possibly CAD, inhibition of the alternative complement pathway improves clinical outcomes and reduces thrombosis risk. Whether complement inhibition has a similar role in congenital hemolytic anemias apart from the atypical hemolytic-uremic (aHUS)-type thrombotic microangiopathies remains to be determined. Copyright © 2016 Elsevier Ltd. All rights reserved.

  11. Hereditary spherocytosis and elliptocytosis associated with prosthetic heart valve replacement: rheological study of erythrocyte modifications.

    Science.gov (United States)

    Caprari, Patrizia; Tarzia, Anna; Mojoli, Giorgio; Cianciulli, Paolo; Mannella, Emilio; Martorana, Maria Cristina

    2009-04-01

    The implantation of a prosthetic heart valve (HVP) in patients with hereditary spherocytosis (HS) and hereditary elliptocytosis (HE) is rare, and the changes in the structure and deformability of erythrocytes that follow implantation in these patients have been poorly described. In the present study, the erythrocytes in HS and HE patients with mechanical HVP were compared to the erythrocytes in patients with only congenital membrane defects, in terms of biochemical modifications and rheological behaviour. Integral and cytoskeletal erythrocyte membrane proteins were studied, and blood viscosity (shear rate/shear stress ratio), aggregation ratio [eta(1 s(-1))/eta(200 s(-1))], and red cell visco-elasticity were determined. Valve replacement with a mechanical prosthesis worsened anaemia and resulted in a change in haemolysis, from sub-clinical to evident. The rheological investigation of erythrocytes from HS patients confirmed the characteristic increased viscosity and aggregation ratio and the decreased deformability. The rheological behaviour of erythrocytes from patients with HVP showed a decrease in viscosity and an increase in elastic modulus. In these patients, the prosthesis seems to have induced traumatic damage to the erythrocyte membrane, leading to fragmentation and lysis, which in turn modified rheological parameters. The biochemical and rheological investigation allowed us to understand the clinical and haematological pictures of the patients and to describe the role played by different factors in haemolytic anaemia.

  12. [Ataxias and hereditary spastic paraplegias].

    Science.gov (United States)

    Schüle, R; Schöls, L

    2017-07-01

    Hereditary ataxias and spastic paraplegias are genetic disorders with age-dependent nearly complete penetrance. The mostly monogenetic etiology allows one to establish the diagnosis, study pathogenesis and to develop new causative therapeutic approaches for these diseases. Both the causative genes as well as the clinical presentation overlap considerably between hereditary ataxias and spastic paraplegias. This strongly argues towards a united classification for these two groups of diseases. Next generation sequencing technologies have greatly expanded the number of genes known to be causative for hereditary ataxias and spastic paraplegias and allow simultaneous time- and cost-effective diagnostic testing of > 200 genes. However, repeat expansions and large genomic deletions must be considered separately. Here, we suggest a pragmatic algorithm for genetic testing in hereditary ataxias and spastic paraplegias that we have developed in our specialized outpatient clinics. Detailed phenotyping remains crucial to interpret the multitude of genetic variants discovered by high throughput sequencing techniques. Despite recent technical advances, a substantial proportion of ataxia and spastic paraplegia families are still without a molecular diagnosis. Beside new and so far undetected ataxia and spasticity genes, unusual mutation types including noncoding variants and polygenic inheritance patterns may contribute. Because of these clinical, genetic, and technological challenges, patients with hereditary ataxias and spastic paraplegias should be referred to specialized centers offering research and clinical studies. This will also help to recruit representative patient cohorts for upcoming interventional trials.

  13. Hereditary pancreatitis: current perspectives

    Directory of Open Access Journals (Sweden)

    Raphael KL

    2016-07-01

    Full Text Available Kara L Raphael, Field F Willingham Division of Digestive Diseases, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA Abstract: Hereditary pancreatitis (HP is a rare cause of acute, recurrent acute, and chronic pancreatitis. It may present similarly to other causes of acute and chronic pancreatitis, and often there has been a protracted evaluation prior to the diagnosis of HP. Since it was first described in 1952, multiple genetic defects that affect the action of digestive enzymes in the pancreas have been implicated. The most common mutations involve the PRSS1, CFTR, SPINK1, and CTRC genes. New mutations in these genes and previously unrecognized mutations in other genes are being discovered due to the increasing use of next-generation genomic sequencing. While the inheritance pathways of these genetic mutations may be variable and complex, sometimes involving coinheritance of other mutations, the clinical presentation of patients tends to be similar. Interactions with environmental triggers often play a role. Patients tend to present at an early age (prior to the second decade of life and have a significantly increased risk for the development of pancreatic adenocarcinoma. Patients with HP may develop sequelae of chronic pancreatitis such as strictures and fluid collections as well as exocrine and endocrine insufficiency. Management of patients with HP involves avoidance of environmental triggers, surveillance for pancreatic adenocarcinoma, medical therapy for endocrine and exocrine insufficiency, pain management, and endoscopic or surgical treatment for complications. Care for affected patients should be individualized, with an emphasis on early diagnosis and multidisciplinary involvement to develop a comprehensive treatment strategy. Keywords: pancreatic cancer, chronic pancreatitis, idiopathic pancreatitis, pancreatitis, familial pancreatitis, genetic mutations

  14. Dialysis anaemia caused by subacute zinc toxicity.

    Science.gov (United States)

    Petrie, J J; Row, P G

    1977-06-04

    Nine out of ten patients dialysed in a satellite dialysis unit became severely anaemic over a 2-month period. The onset of anaemia coincided with the installation of a new galvanised-iron water softener in the dialysate water-supply system. An activated carbon filter was installed and haemoglobin levels returned towards previous values. Two patients on home dialysis showed similar falls in haemoglobin after the installation of galvanised iron piping in their dialysate water-supply systems; these problems also resolved after carbon filtration of the dialysis water. It is suggested that elution of zinc from galvanised iron can cause anaemia in dialysis patients. Carbon filtration removes of 95-99% of the zinc eluted.

  15. Hemolytic-uremic syndrome associated with emphysematous cholecystitis.

    Science.gov (United States)

    Babott, D; Brozinsky, S; Esseesse, I; Suster, B

    1980-03-01

    A 34-year old man presented with jaundice, nausea and vomiting. He had previously been in good health but was a chronic drug abuser and regularly consumed large amounts of wine. Emphysematous cholecystitis was diagnosed by abdominal radiography. Examination of the peripheral blood smear, blood count and serum chemistries revealed a microangiopathic hemolytic anemia, thrombocytopenia and renal insufficiency. He was treated with antibiotics and intravenous fluids and had clinical, hematologic and biochemical improvement over the course of the next four weeks. At surgery, a chronically inflamed gallbladder, containing multiple stones, was resected. There was no evidence of vasculitis. Although emphysematous cholecystitis associated with hemolytic-uremic syndrome is most unusual, other diseases of infectious etiology have been reported in association with the hemolytic-uremic syndrome. The possible etiologic role of endotoxin is discussed, as are the importance of recognizing the hemolytic-uremic syndrome in patients with underlying or concurrent bacterial infections and the problem of management in such a case.

  16. Musculoskeletal disorders in sickle cell anaemia--unusual associations.

    Science.gov (United States)

    Umesh, Soumya; Ajit, Nisha Elizabeth; Shobha, Vineeta; Nazuralla, Syed; Ross, Cecil; Choudhury, Ratnamala

    2014-01-01

    Sickle cell anaemia coexisting with gout is a rare clinical association, as is gout and eosinophilia. This report records the second case of chronic tophaceous deposits in Sickle cell anaemia. The patient also had eosinophilia in association with gout. Skeletal fluorosis was an incidental finding in this patient. Treatment with packed cell transfusions, hydroxyurea and colchicine lead to the resolution of anaemia and symptoms of acute gout.

  17. Epidemiology of anaemia necesitating bone marrow aspiration cytology in Jos

    OpenAIRE

    O J Egesie; D E Joseph; U G Egesie; O J Ewuga

    2009-01-01

    Objective: The study aims at investigating, identifying and classifying the various causes of anaemia necessitating bone marrow aspiration cytology in our enviromnent. Methodology:A retrospective review of all bone marrow aspiration cytology reports of patients referred to Haematology and Blood Transfusion department of the Jos University Teaching Hospital between January 1st 2005 and December 31st 2008 on account of anaemia was carried out. Results: The commonest cause of anaemia was...

  18. Prevalence and aetiology of anaemia in lymphoid malignancies.

    Science.gov (United States)

    Ghosh, J; Singh, R K Bikramjit; Saxena, R; Gupta, R; Vivekanandan, S; Sreenivas, V; Raina, V; Sharma, A; Kumar, L

    2013-01-01

    We prospectively studied the prevalence, type and causes of anaemia in newly diagnosed patients with lymphoid malignancies. Between January 2007 and June 2008, a total of 316 newly diagnosed, consecutive patients (aged 15 years or above) of Hodgkin lymphoma, non-Hodgkin lymphoma and chronic lymphocytic leukaemia with anaemia (haemoglobin anaemia. Hodgkin lymphoma, non-Hodgkin lymphoma and chronic lymphocytic leukaemia were the diagnoses in 81 (25.8%), 203 (64.7%) and 30 (9.6%) patients, respectively. Anaemia was present in 134 patients (42.4%). Anaemia of chronic disease was present in 33/46 (71.7%) and iron deficiency in 18/46 (39.1%) patients. Vitamin B12 and/or folate deficiency was detected in 10/46 (21.7%) patients (B12 deficiency alone in 7, folate deficiency alone in 1 and combined B12 and folate deficiency in 2). Autoimmune haemolytic anaemia was detected in 5/46 (10.9%) although direct Coombs test was positive in 17/46 (37%) patients. Among patients with Hodgkin lymphoma and non-Hodgkin lymphoma, anaemia due to bone marrow involvement was present in 16/40 (40%). In most patients with bone marrow involvement, anaemia was due to other causes. In only 3 patients, anaemia was attributable to bone marrow involvement alone. Anaemia was multifactorial in 18/46 (39.1%) patients. Nutritional deficiency alone or in combination was present in 22/46 (47.8%) patients. Anaemia is common in lymphoid malignancies at initial presentation. Besides managing anaemia of chronic disease and bone marrow involvement, nutritional and autoimmune causes should be ruled out. Copyright 2013, NMJI.

  19. Pathology of hereditary breast cancer

    OpenAIRE

    van der Groep, Petra; van der Wall, Elsken; van Diest, Paul J.

    2011-01-01

    Background Hereditary breast cancer runs in families where several members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 accounting for about 5% of all breast cancers. Other genes that include CHEK2, PTEN, TP53, ATM, STK11/LKB1, CDH1, NBS1, RAD50, BRIP1 and PALB2 have been described to be high or moderate penetrance breast cancer susceptibility genes, all contributing to the hereditary breast cancer spe...

  20. Carboplatin Induced Fatal Autoimmune Hemolytic Anemia: First Reported Case

    OpenAIRE

    Dacha, Sunil; Reddivari, Anil K; Latta, Shadi; Devidi, Manjari; Iroegbu, Nkemakolam

    2010-01-01

    Carboplatin is an alkylating anti-neoplastic drug used in various cancers especially ovarian cancer, germ cell tumors, endometrial cancer besides others. We present a case of acute autoimmune hemolytic anemia during Carboplatin infusion in a patient previously exposed to the drug, resulting in the death of the patient. Published reports of Carboplatin induced autoimmune hemolytic anemia suggest these are usually nonfatal and improve after discontinuation of the drug. Fatal autoimmune hemolysi...

  1. Advanced Prostate Cancer Presenting as Hemolytic Uremic Syndrome

    OpenAIRE

    Ramos, R.; Lopes, F.; Rodrigues, T.; Rolim, N.; Rodrigues, I.; Monteiro, H.

    2013-01-01

    Introduction. Hemolytic uremic syndrome (HUS) is characterized by endothelial dysfunction, consumption thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. HUS generally has a dismal prognosis, except when associated with gastroenteritis caused by verotoxin-producing bacteria. Cancer associated HUS is uncommon, and there are only scarce reports on prostate cancer presenting with HUS. Case Presentation. A 72-year-old man presented to the emergency department with oligu...

  2. Immune hemolytic anemia--selected topics.

    Science.gov (United States)

    Hoffman, Philip C

    2009-01-01

    Autoimmune hemolytic anemia (AIHA) is most often idiopathic. However, in recent years, AIHA has been noted with increased incidence in patients receiving purine nucleoside analogues for hematologic malignancies; it has also been described as a complication of blood transfusion in patients who have also had alloimmunization. As the technology of hematopoietic stem cell transplantation has become more widespread, immune hemolysis in the recipients of ABO-mismatched products has become better recognized. The syndrome is caused by passenger lymphocytes transferred from the donor and, although transient, can be quite severe. A similar syndrome has been observed in recipients of solid organ transplants when there is ABO-incompatibility between donor and recipient. Venous thromboembolism is a little-recognized, though likely common, complication of AIHA, and may in some instances be related to coexistent antiphospholipid antibodies. While AIHA is a well-documented complication of malignant lymphoproliferative disorders, lymphoproliferative disorders may also paradoxically appear as a consequence of AIHA. A number of newer options are available for treatment of AIHA in patients refractory to corticosteroids and splenectomy. Newer immunosuppressives such as mycophenolate mofetil may have a role in such cases. Considerable experience has been accumulating in the last few years with monoclonal antibody therapy, mainly rituximab, in difficult AIHA cases; it appears to be a safe and effective option.

  3. Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome

    OpenAIRE

    Chang, Hye Jin; Kim, Hwa Young; Choi, Jae Hong; Choi, Hyun Jin; Ko, Jae Sung; Ha, Il Soo; Cheong, Hae Il; Choi, Yong; Kang, Hee Gyung

    2014-01-01

    Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who undergo chronic renal replacement therapy. Escherichia coli serotype O157:H7 is the predominant bacterial strain identified in patients with HUS; more than 100 types of Shiga toxin-producing enterohemorrhagic E. coli (EHEC) subtypes have also been isolated. The typical HUS manifestations are microangiopathic hemolytic anemia, thrombocyto...

  4. Immunophenotyping of hereditary breast cancer

    NARCIS (Netherlands)

    van der Groep, P.|info:eu-repo/dai/nl/304810789

    2009-01-01

    Hereditary breast cancer runs in families where several family members in different generations are affected. Most of these breast cancers are caused by mutations in the high penetrance genes BRCA1 and BRCA2 which account for about 5% of all breast cancers. However, mutations in BRCA1 and BRCA2 may

  5. Drug therapy for hereditary cancers

    Directory of Open Access Journals (Sweden)

    Imyanitov Evgeny N

    2011-08-01

    Full Text Available Abstract Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose polymerase (PARP. Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC. Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC patients; studies involving non-selected (i.e., both sporadic and hereditary CRC with high-level microsatellite instability (MSI-H suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP. Hereditary medullary thyroid cancers (MTC have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.

  6. Genetics Home Reference: hereditary hemochromatosis

    Science.gov (United States)

    ... several genes, including HAMP , HFE , HFE2 , SLC40A1 , and TFR2 , can cause hereditary hemochromatosis . Type 1 hemochromatosis results ... the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in ...

  7. Genetics of Hereditary Angioedema Revisited.

    Science.gov (United States)

    Germenis, Anastasios E; Speletas, Matthaios

    2016-10-01

    Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.

  8. Autoimmune hemolytic anemia: From lab to bedside

    Directory of Open Access Journals (Sweden)

    R K Chaudhary

    2014-01-01

    Full Text Available 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.

  9. Laparoscopic splenectomy for hereditary spherocytosis-preliminary report.

    Science.gov (United States)

    Rogulski, Robert; Adamowicz-Salach, Anna; Matysiak, Michał; Piotrowski, Dariusz; Gogolewski, Michał; Piotrowska, Anna; Roik, Danuta; Kamiński, Andrzej

    2016-06-01

    Splenectomy is considered standard surgical therapy in hereditary spherocytosis. The procedure is indicated in patients with severe anemia, recurrent hemolytic, and aplastic crises. The aim of the study was to assess treatment outcomes in patients with hereditary spherocytosis who underwent total or partial laparoscopic splenectomy. Fifteen patients aged 4-17 yr underwent laparoscopic splenectomy from 2009 to 2012. Partial and total splenectomies were performed (five and 10 children, respectively). Hematologic parameters, liver function tests, and splenic volume before and after the surgery were analyzed retrospectively. Total follow-up was 1-30 months. Hospitalization and operating time were similar in both groups. In partial splenectomy group, branches of splenic arteries gave better blood supply than short gastric vessels. In both groups, hematologic parameters were improved. Postoperative markedly elevated platelet count was maintained up to 6 months, and after that, platelet count gradually decreased to normal values. Bilirubin level was decreased in early postoperative period; however, it increased later to achieve levels lower than in preoperative period. No severe general infections were observed in both groups. Laboratory parameters (hemoglobin and bilirubin concentrations and RBC) after the surgery improved in all patients, and the effect was maintained during 12 months of follow-up. Platelet count increased significantly after the surgery and was maintained at high levels during the next 6 months. However, it returned to preoperative levels within a year after the surgery. Our study showed that partial splenectomy was not inferior to total splenectomy. However, full assessment requires longer follow-up and larger group of patients. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Malaria, anaemia and antimalarial drug resistance in African children

    NARCIS (Netherlands)

    Obonyo, C.O.

    2006-01-01

    Malaria-associated anaemia is a potentially preventable cause of severe morbidity and mortality in children < 5years of age, in areas of high malaria transmission in sub-Saharan Africa. In a cross-sectional study of 3586 children, 80% were anaemic (haemoglobin [Hb]<11g/dL) and 3% had severe anaemia

  11. CORRECTION OF ANAEMIA WITH ERYTHROPOIETIN IN CKD/ESRD PATIENTS

    OpenAIRE

    Madhukar,; Shyamal; Rashmi; Anitha; Bhattacharjee; Anjaiah; Abdul; Kunal,

    2015-01-01

    Chronic kidney disease ( CKD) is characterized by gradual and permanent loss of kidney function. One of the most common complications of CKD is Anaemia . 1,3 Anaemia often appears earlier in course of CKD and worsens with disease progression. 1,2 Erythropoietin is a hormone synthesized in the kidney is deficient in the majority of ...

  12. prevalence of anaemia in patients attending an outpatient clinic

    African Journals Online (AJOL)

    present in this population even during the low malaria season. Only 5% of patients were positive for Plasmodium fakiparum malaria. Peripheral blood film examination suggested iron deficiency as the major cause of anaemia. Conclusions: Further studies to define the underlying causes of anaemia and to develop.

  13. Significance of platelet activation in sickle cell anaemia | Ibanga ...

    African Journals Online (AJOL)

    Background: There is increasing evidence suggesting the contribution of platelets in the vaso-occlusive phenomena found in sickle cell anaemia. This study is aimed at using simple, inexpensive parameters to determine the role of platelets in the steady state and vaso-occlusive crisis state of Nigerian sickle cell anaemia ...

  14. Sociodemographic factors in anaemia in pregnancy in south ...

    African Journals Online (AJOL)

    Background: Anaemia in pregnancy persists, especially in third world countries where poor diet, low levels of literacy, infections, infestations and cultural practices predispose pregnant women to being anaemic. The aim of this study was to determine the prevalence of anaemia in pregnancy and to identify the possible ...

  15. Ameliorative effects of Cnidoscolus aconitifolius on anaemia and ...

    African Journals Online (AJOL)

    This study was designed to evaluate the ameliorative effect of dietary supplementation of Cnidoscolus aconitifolius leaf on anaemia and changes in erythrocyte osmotic fragility in protein energy malnourished rats. Protein energy malnutrition has been associated with anaemia and changes in osmotic fragility, deformability ...

  16. Pattern and outcome of Anaemia in Children Managed at the ...

    African Journals Online (AJOL)

    period under study were analysed out of which 152 of them had anaemia due to various conditions; giving a prevalence of 5.5%. Of those with ... Emphasis should be given to efforts that would prevent severe anaemia, such as prompt and appropriate treatment of malaria with artemisinin-based combination therapies and ...

  17. Alpha thalassemia among sickle cell anaemia patients in Kampala ...

    African Journals Online (AJOL)

    Objectives: To determine the prevalence of α+thalassaemia among sickle cell anaemia patients in Mulago Hospital and to describe the ... Concurrent alpha thalassemia might be a protective trait against significant hepatomegaly in sickle cell anaemia patients more than 60 ..... Pediatric Hematology and Oncology. 2002 ...

  18. Correlates and management of anaemia of chronic kidney disease ...

    African Journals Online (AJOL)

    Background: Anaemia is a common complication of chronic kidney disease. There is paucity of published local and regional data regarding its associated factors and management. Objective: To assess the correlates and management of anaemia in chronic kidney disease. Design: Cross sectional descriptive study

  19. Serum ferritin levels in children with malaria anaemia in Ibadan

    African Journals Online (AJOL)

    Dr. J. T. Ekanem

    manifestation of acute severe malaria in southwestern Nigeria is anaemia. Pathogenic mechanisms such as haemolysis, impaired erythropoiesis6, and possibly iron sequestration and iron deficiency7 could contribute to the anaemia, and serum ferritin levels have been shown to increase with increasing malaria density8,9.

  20. Prevalence of anaemia and parasitic infections among underfive ...

    African Journals Online (AJOL)

    Abstract: A study was conducted to determine the prevalence of anaemia and parasitic infections among <5 years old children of the pastoral community in ... lactating women (Stoltzfus et al., 2000). The most common cause of anaemia is a ..... A., (1999) Treatment of iron deficiency with a combined supplementation of iron, ...

  1. Iron deficiency anaemia among apparently healthy pre-school ...

    African Journals Online (AJOL)

    Abstract. Background: Iron deficiency, and specifically iron deficiency anaemia, remains one of the most severe and important nu- tritional deficiencies in the world today. Objective: To estimate the prevalence and associated factors for iron deficiency anaemia among pre-school children in. Lagos. Methodology: The study ...

  2. Prevalence of iron deficiency anaemia in anaemic under-5 children ...

    African Journals Online (AJOL)

    Background: Iron deficiency anaemia has been described as the commonest type of nutritional anaemia in infancy and childhood. The associated adverse health sequelae include permanent behavioural and cognitive impairments. Early detection and prompt treatment are necessary to prevent these complications. Aim: To ...

  3. Prevalence of anaemia among Quranic school (Khalawi) students ...

    African Journals Online (AJOL)

    ... students (93.4%) stool examination was negative , while 11 students (6.6%) had intestinal worms (Enterobius vermicularis). Conclusion: majority of the study participants had iron deficiency anaemia, followed by haemolytic, macrocytic and sickle cell anaemia. This might have negative health and educational implications.

  4. Anaemia in pregnant women in eastern Caprivi, Namibia | Thomson ...

    African Journals Online (AJOL)

    Anaemia in pregnant women in eastern Caprivi, Namibia. Julia Thomson. Abstract. Objective. To describe the prevalence, character and possible aetiology of anaemia in the study region. Design. A cross-sectional study involving a lifestyle and dietary questionnaire, a clinical examination and an analysis of blood and stool ...

  5. Anaemia and its associated factors among pregnant women in Koko ...

    African Journals Online (AJOL)

    Background: Anaemia in pregnancy remains a common problem affecting women in northern Nigeria. It is associated with several adverse consequences. Objective: The aim of this study was to determine the prevalence of anaemia and its associated factors among pregnant women in Koko/Besse local government area of ...

  6. Relationship between vitamin A status and anaemia among school ...

    African Journals Online (AJOL)

    Background: Anaemia and vitamin A deficiency are two major public health problems affecting many developing countries world-wide. Vitamin A deficiency, in addition to other health problems, can contribute to anaemia. Therefore, the objective of this study is to determine the relationship between vitamin A status and ...

  7. Role of cytokines in Trypanosoma brucei-induced anaemia: A ...

    African Journals Online (AJOL)

    the blood-brain barrier. The subspecies Trypanosoma brucei rhodesiense in eastern and southern Africa generally causes a more acute form of ... The persistence of anaemia beyond the initial wave of parasitaemia (after which low numbers of parasites are in circulation) indicates that anaemia may be directly induced.

  8. Cytogenetic profile of aplastic anaemia in Indian children

    Directory of Open Access Journals (Sweden)

    Vineeta Gupta

    2013-01-01

    Interpretation & conclusions: Five (11.9% patients with acquired aplastic anaemia had chromosomal abnormalities. Trisomy was found to be the commonest abnormality. Cytogenetic abnormalities may be significant in acquired aplastic anaemia although further studies on a large sample are required to confirm the findings.

  9. Anaemia in pregnant women in eastern Caprivi, Namibia

    African Journals Online (AJOL)

    Anaemia in pregnant women in eastern Caprivi,. Namibia. Julia Thomson. Objective. To describe the prevalence, character and possible aetiology of anaemia in the study region. Design. A cross-sectional study involving a lifestyle and dietary questionnaire, a clinical examination and an analysis of blood and stool samples.

  10. Prevalence of Anaemia Among Human Immunodeficiency Virus (HIV)

    African Journals Online (AJOL)

    Background: Anaemia is the most commonly encountered haematological abnormality in human immunodeficiency virus (HIV) positive patients with estimates climbing as high as 95% depending on clinical settings. The twin effects of HIV infection and anaemia in pregnancy is associated with adverse maternal and ...

  11. ORIGINAL ARTICLES Anaemia among clinically well under-fives ...

    African Journals Online (AJOL)

    This study has several limitations. The lack of red blood cell (RBC) indices prevents further classification of anaemia, which could have helped in finding an aetiology. The original study did not include this because of uncertainty regarding laboratory facilities, cost, and a lack of understanding of the region's anaemia burden.

  12. Anaemia prevalence and nutrient intake among women in peri ...

    African Journals Online (AJOL)

    Anaemia was classified based on recommended cut-offs. Chi-square analysis was used as a test of independence between anaemia and age groups. Linear regression was used to determine predictors of haemoglobin concentration. The mean age of the women was 29 ± 8 years. The mean total caloric intake was 2315 ...

  13. Risk factors for anaemia among HIV infected children attending care ...

    African Journals Online (AJOL)

    There is paucity of data describing the risk factors for anaemia among HIV infected children in Tanzania. This cross sectional study was carried out to determine the contributing factors for anaemia among HIV-infected children attending Muhimbili National Hospital in Dar es Salaam. Both univariate and multivariate logistic ...

  14. Anaemia in HIV infected Nigerian children on HAART | Sadoh ...

    African Journals Online (AJOL)

    Background: Most studies evaluating anaemia and associated factors in HIV infected children have been done on those that are HAART naïve. This study evaluated anaemia among Nigerian children on HAART. Methodology: This cross-sectional study estimated Packed Cell Volume (PCV) in 155 HIV infected children ...

  15. Predictors of mortality in Gambian children with severe malaria anaemia

    NARCIS (Netherlands)

    Bojang, K. A.; van Hensbroek, M. B.; Palmer, A.; Banya, W. A.; Jaffar, S.; Greenwood, B. M.

    1997-01-01

    Severe malaria anaemia is a frequent cause of admission to hospital in tropical Africa and about 10% of children with this condition die. To determine ways in which mortality might be reduced we have studied risk factors for a fatal outcome in 173 children with severe malaria anaemia who were

  16. Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia.

    Science.gov (United States)

    Englum, Brian R; Rothman, Jennifer; Leonard, Sarah; Reiter, Audra; Thornburg, Courtney; Brindle, Mary; Wright, Nicola; Heeney, Matthew M; Jason Smithers, C; Brown, Rebeccah L; Kalfa, Theodosia; Langer, Jacob C; Cada, Michaela; Oldham, Keith T; Scott, J Paul; St Peter, Shawn D; Sharma, Mukta; Davidoff, Andrew M; Nottage, Kerri; Bernabe, Kathryn; Wilson, David B; Dutta, Sanjeev; Glader, Bertil; Crary, Shelley E; Dassinger, Melvin S; Dunbar, Levette; Islam, Saleem; Kumar, Manjusha; Rescorla, Fred; Bruch, Steve; Campbell, Andrew; Austin, Mary; Sidonio, Robert; Blakely, Martin L; Rice, Henry E

    2016-01-01

    The purpose of this study was to define the hematologic response to total splenectomy (TS) or partial splenectomy (PS) in children with hereditary spherocytosis (HS) or sickle cell disease (SCD). The Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium registry collected hematologic outcomes of children with CHA undergoing TS or PS to 1 year after surgery. Using random effects mixed modeling, we evaluated the association of operative type with change in hemoglobin, reticulocyte counts, and bilirubin. We also compared laparoscopic to open splenectomy. The analysis included 130 children, with 62.3% (n=81) undergoing TS. For children with HS, all hematologic measures improved after TS, including a 4.1g/dl increase in hemoglobin. Hematologic parameters also improved after PS, although the response was less robust (hemoglobin increase 2.4 g/dl, p<0.001). For children with SCD, there was no change in hemoglobin. Laparoscopy was not associated with differences in hematologic outcomes compared to open. TS and laparoscopy were associated with shorter length of stay. Children with HS have an excellent hematologic response after TS or PS, although the hematologic response is more robust following TS. Children with SCD have smaller changes in their hematologic parameters. These data offer guidance to families and clinicians considering TS or PS. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Hematologic outcomes after total splenectomy and partial splenectomy for congenital hemolytic anemia☆☆☆

    Science.gov (United States)

    Englum, Brian R.; Rothman, Jennifer; Leonard, Sarah; Reiter, Audra; Thornburg, Courtney; Brindle, Mary; Wright, Nicola; Heeney, Matthew M.; Smithers, C. Jason; Brown, Rebeccah L.; Kalfa, Theodosia; Langer, Jacob C.; Cada, Michaela; Oldham, Keith T.; Scott, J. Paul; St Peter, Shawn D; Sharma, Mukta; Davidoff, Andrew M.; Nottage, Kerri; Bernabe, Kathryn; Wilson, David B.; Dutta, Sanjeev; Glader, Bertil; Crary, Shelley E.; Dassinger, Melvin S.; Dunbar, Levette; Islam, Saleem; Kumar, Manjusha; Rescorla, Fred; Bruch, Steve; Campbell, Andrew; Austin, Mary; Sidonio, Robert; Blakely, Martin L.; Rice, Henry E.

    2016-01-01

    Purpose The purpose of this study was to define the hematologic response to total splenectomy (TS) or partial splenectomy (PS) in children with hereditary spherocytosis (HS) or sickle cell disease (SCD). Methods The Splenectomy in Congenital Hemolytic Anemia (SICHA) consortium registry collected hematologic outcomes of children with CHA undergoing TS or PS to 1 year after surgery. Using random effects mixed modeling, we evaluated the association of operative type with change in hemoglobin, reticulocyte counts, and bilirubin. We also compared laparoscopic to open splenectomy. Results The analysis included 130 children, with 62.3% (n = 81) undergoing TS. For children with HS, all hematologic measures improved after TS, including a 4.1 g/dl increase in hemoglobin. Hematologic parameters also improved after PS, although the response was less robust (hemoglobin increase 2.4 g/dl, p < 0.001). For children with SCD, there was no change in hemoglobin. Laparoscopy was not associated with differences in hematologic outcomes compared to open. TS and laparoscopy were associated with shorter length of stay. Conclusion Children with HS have an excellent hematologic response after TS or PS, although the hematologic response is more robust following TS. Children with SCD have smaller changes in their hematologic parameters. These data offer guidance to families and clinicians considering TS or PS. PMID:26613837

  18. Life-threatening autoimmune hemolytic anemia and idiopathic thrombocytopenic purpura: successful seletive splenic artery embolization

    Directory of Open Access Journals (Sweden)

    matteo molica

    2016-04-01

    Full Text Available Selective splenic artery embolization (SSAE is a nonsurgical intervention characterized by the transcatheter occlusion of the splenic artery and/or its branch vessels using metallic coils or other embolic devices. It has been applied for the management of splenic trauma, hypersplenism with portal hypertension, hereditary spherocytosis, thalassemia and splenic hemangioma. We hereby describe a case of a patient affected by idiopathic thrombocytopenic purpura (ITP and warm auto-immune hemolytic anemia (AIHA both resistant to immunosuppressive and biological therapies, not eligible for a surgical intervention because of her critical conditions. She underwent SSAE and achieved a hematologic complete response within a few days without complications. SSAE is a minimally invasive procedure to date not considered a standard option in the management of AIHA and ITP. However, following the progressive improvement of the techniques, its indications have been extended, with a reduction in morbidity and mortality compared to splenectomy in patients with critical clinical conditions. SSAE was a lifesaving therapeutic approach for our patient and it may represent a real alternative for the treatment of resistant AIHA and ITP patients not eligible for splenectomy.

  19. Is Penicillium citrinum implicated in sago hemolytic disease?

    Science.gov (United States)

    Atagazli, Latifeh; Greenhill, Andrew R; Melrose, Wayne; Pue, Aisak G; Warner, Jeffrey M

    2010-05-01

    Sago hemolytic disease (SHD) is an acute hemolytic syndrome affecting rural Papua New Guineans who depend on the starch of Metroxylon sagu as a staple carbohydrate. It is a suspected mycotoxicosis associated with fungal succession in stored and perhaps poorly fermented sago. Despite a mortality rate of approximately 25%, little is know about the disease. Recent studies have identified Penicillium citrinum as a possible candidate in the etiology of SHD. This is based on the frequency of isolation from sago starch and the hemolytic nature of the organism as demonstrated when cultured on sheep and human blood agar. A highly non-polar lipophilic P. citrinum fraction from C18 solid phase extraction demonstrated high hemolytic activity in a semi-quantitative assay using both mouse and human erythrocytes. When the red cell membrane proteins were subjected to sodium dodecyl-sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) separation, cleavage of protein band 3 and spectrin was demonstrated. This breach of major structural red cell proteins is consistent with the severe hemolysis found in vivo. Our findings warrant further investigation into the hemolytic activity of P. citrinum and its role as the etiological agent of SHD.

  20. How I treat autoimmune hemolytic anemias in adults.

    Science.gov (United States)

    Lechner, Klaus; Jäger, Ulrich

    2010-09-16

    Autoimmune hemolytic anemia is a heterogeneous disease with respect to the type of the antibody involved and the absence or presence of an underlying condition. Treatment decisions should be based on careful diagnostic evaluation. Primary warm antibody autoimmune hemolytic anemias respond well to steroids, but most patients remain steroid-dependent, and many require second-line treatment. Currently, splenectomy can be regarded as the most effective and best-evaluated second-line therapy, but there are still only limited data on long-term efficacy and adverse effects. The monoclonal anti-CD20 antibody rituximab is another second-line therapy with documented short-term efficacy, but there is limited information on long-term efficacy and side effects. The efficacy of immunosuppressants is poorly evaluated. Primary cold antibody autoimmune hemolytic anemias respond well to rituximab but are resistant to steroids and splenectomy. The most common causes of secondary autoimmune hemolytic anemias are malignancies, immune diseases, or drugs. They may be treated in a way similar to primary autoimmune hemolytic anemias, by immunosuppressants or by treatment of the underlying disease.

  1. Iron in haemoglobinopathies and rare anaemias

    Directory of Open Access Journals (Sweden)

    John Porter

    2014-12-01

    Full Text Available Iron overload in haemoglobinopathies and rare anaemias may develop from increased iron absorption secondary to hepcidin suppression, and/or from repeated blood transfusions. While the accumulation of body iron load from blood transfusion is inevitable and predictable from the variable rates of transfusion in the different conditions, there are some important differences in the distribution of iron overload and its consequences between these. Transfusion-dependent thalassaemia (TDT is the best described condition in which transfusional overload occurs. Initially iron loads into macrophages, subsquently hepatocytes, and then the endocrine system including the anterior pituiatry and finally the myocardium. The propensity to extrahepatic iron spread increases with rapid transfusion and with inadequate chelation therapy but there is considerable interpatient and interpopulation variability in this tendency. The conduits though which iron is delivered to tissues is through non transferrin iron species (NTBI which are taken into liver, endocrine tissues and myocardium through L-type calcium channells and possibly through other channells. Recent work by the MSCIO group1 suggests that levels of NTBI are determined by three mechanisms: i increasing with iron overload; ii increasing with ineffective erythropoieis; iii and decreasing when level of transferrin iron utilisation is high. In TDT all three mechanisms increase NTBI levels because transferrin iron utilisation is suppressed by hypertransfusion. It is hypothesized that the transfusion regimen and target mean Hb may have a key impact on NTBI levels because high transfusion regimes may suppress the ‘sink’ effect of the erythron though decreased clearance of transferrin iron. In sickle cell disease (SCD without blood transfusion the anaemia results mainly from haemolysis rather than from ineffective erythropoiesis.2 Thus there is a tendency to iron depletion because of urinary iron loss from

  2. Anaemia: the neglected female health problem in developing countries.

    Science.gov (United States)

    Nazir, Ghazala; Naz, Saima; Ali, Shafqut; Aziz, Shaheen; Malik, Shakeel Ahmad; Qari, Iftikhar Hossain; Irum, Samia

    2011-01-01

    Anaemia is arguably the biggest female health problems in developing countries. The world is still to fully fathom the extent and gravity of the problem. This problem aggravates particularly during and after pregnancies due to increased nutritional demands and inadequate iron supply and is therefore more widespread in parous segments of female population. Objective of this study was to determine prevalence of anaemia in apparently healthy parous female population of Abbottabad and investigate underlying causes. This descriptive, cross-sectional study was conducted from October 2001 to March 2011 in Abbottabad. Women reporting for various surgical procedures were investigated for anaemia by obtaining history through a structured performa, specifically designed to identify the underlying causes. Sixteen thousand women of childbearing age (20-40 years) were included in the study; 14,800 with history of at least one pregnancy and remaining with no previous pregnancy. Haemoglobin (Hb) was measured using haematology analyser Sysmex (KX21). Of the screened women, 60% were found anaemic (Hb Anaemia was related to socio-demographic and obstetric history characteristics. The prevalence of anaemia was significantly lower in women who used iron supplements during their pregnancies. Lactating mothers not making up for the iron deficiencies during pregnancies usually carried their anaemia postpartum and beyond. Lower gaps between pregnancies also contributed significantly to the problem. Prevalence and severity of anaemia in reproductive age females reporting to surgical units were found to be exceptionally high. Frequency of anaemia in the parous females of relatively affluent city of Abbotabad indicates that anaemia may be on the rise in developing countries. Addressing pregnancy related anaemia and nutritional deficiencies through intake of supplements on regular basis in women before and between pregnancies is essential.

  3. Anaemia and severe malarial anaemia burden in febrile Gabonese children: a nine-year health facility based survey.

    Science.gov (United States)

    Bouyou-Akotet, Marielle Karine; Mawili Mboumba, Denise Patricia; Kendjo, Eric; Mbadinga, Fanckie; Obiang-Bekale, Nestor; Mouidi, Pacome; Kombila, Maryvonne

    2013-12-15

    Anaemia remains a major cause of poor health in children and pregnant women living in sub-Saharan Africa. Malaria is one of the main causes of anaemia in endemic countries. At the time of decreasing Plasmodium falciparum infection prevalence among children, it was essential to analyze the evolution of anaemia and severe malarial anaemia (SMA), the most frequent clinical manifestation of severe malaria, in Gabon. Yearly recorded haemoglobin levels of febrile children aged below11 years, who benefitted from microscopic malaria diagnosis, were retrospectively analyzed to determine the evolution of anaemia and SMA prevalence throughout a nine-year period between 2000 and 2008. Anaemia prevalence remained high both in P. falciparum-infected children (between 87.6% and 90.7%) and in uninfected children (between 73.5% and 82.6%). Although the risk of developing severe anaemia ranged between 1.9 [0.9-3.8] in 2000 and 3.0 [1.3-6.5] in 2007, SMA prevalence did not significantly change during the study period, varying from 6.0% to 8.0%. From 2001, the frequency of SMA was comparable between children younger than five years of age and children older than five years of age. The decreasing malaria prevalence previously observed in Gabon between 2000 and 2008 was not associated with a significant reduction of anaemia and SMA burden among children. Furthermore, other factors such as nutritional deficiencies, which may not be negligible, must be investigated in this vulnerable population.

  4. Syringomyelia in hereditary multiple exostosis.

    Science.gov (United States)

    Legare, Janet M; Modaff, Peggy; Iskandar, Bermans J; Pauli, Richard M

    2016-11-01

    We describe five children with Hereditary Multiple Exostosis (HME) who also had syringomyelia. Of these, four had a tethered cord/fibrolipoma. No spinal osteochondromas were found in these patients. All had antecedent neurological signs or symptoms that prompted spinal imaging with MRI. Of all patients with HME seen in the Midwest Regional Bone Dysplasia Clinic from 1982 to present, 44% (17/39) of patients had signs or symptoms concerning for possible cord-related neurological findings. However, only 10 of 39 had spinal imaging. Assuming that all individuals with syringomyelia were identified, then 5/39 (13%) were in that way affected. This, of course, is a minimal estimate given that many were not imaged. The incidence of syringomyelia appears to be increased in this population, and seems to be unrelated to spinal osteochondromas. A low threshold for obtaining spinal MRI in patients with Hereditary Multiple Exostosis seems rational. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. New treatments of hereditary blindness

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Rosenberg, Thomas; Larsen, Michael

    2013-01-01

    Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life and a structura......Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life...... and a structurally intact retinal tissue to adult life with a complete loss of photoreceptors. It must be assumed that some of the trials will succeed in producing new therapies and action must be taken to refine and accelerate diagnostics and to preserve therapeutic potential in blind people....

  6. Hereditary aspects of prostate cancer.

    OpenAIRE

    McLellan, D. L.; Norman, R. W.

    1995-01-01

    OBJECTIVE: To review current literature on the hereditary aspects of prostate cancer and to evaluate the importance of family history in history taking and screening for prostate cancer. DATA SOURCES: MEDLINE was searched for articles in English or French published between Jan. 1, 1956, and Oct. 31, 1994, with the use of MeSH headings "prostatic neoplasms," "genetics" and "chromosomes." Additional references were selected from the bibliographies of articles found during the search. STUDY SELE...

  7. [Hereditary carcinoma: pathogenesis and diagnosis].

    Science.gov (United States)

    Jungck, M

    2000-01-01

    Effective prevention of cancer in patients with a hereditary disposition to malignant tumours was made possible by intensive prevention programs and molecular diagnosis. Taken hereditary non-polyposis colorectal cancer (HNPCC) as an example this article deals with the pathogenesis and molecular diagnosis in hereditary dispositions to cancer. HNPCC is inherited in an autosomal-dominant fashion and caused by germline mutations in genes responsible for detection an removal of DNA-basepair-mismatches (DNA-mismatch-repair-genes). The error rate in DNA replication is reduced thousandfold by these genes. A defective DNA-mismatch-repair results in tumours if the increased mutation rate causes alterations of tumour-suppressor- or oncogenes. HNPCC patients develop colorectal cancer but also tumours of the renal pelvis, the ureter, the small bowel, the endometrium and less often in other organs. The clinical presentation of these tumours may be characteristic, the clinical diagnosis may be guided by different clinical criteria catalogues. The suspicion is proven by the identification of a germline mutation in DNA-mismatch-repair-genes. This laborious diagnostic procedure is often preceded by prescreening procedures as the detection of microsatellite instability or immunohistochemical tests. Once the germline mutation is identified in a affected family member, the first degree relatives may be tested for this mutation. If they have inherited the mutation, they harbour a extremely high risk for developing cancer and therefore may be included in prevention programs. This so called predictive testing must be preceded by genetic counseling.

  8. ABO incompatibility hemolytic disease following exchange transfusion 96 newborn

    Directory of Open Access Journals (Sweden)

    Khatami S.F

    2007-09-01

    Full Text Available Background: ABO incompatibility hemolytic disease of the newborn is a common cause of clinical jaundice and causes two-thirds of the hemolytic disease in newborns. This study was undertaken to determine the frequency of ABO incompatibility hemolytic disease and its complications in newborns undergoing exchange transfusion.Methods: This prospective and descriptive study was performed in jaundiced newborn infants during a three-year period. Inclusion criteria were: maternal blood type O, newborn blood type A or B, rising indirect hyperbilirubinemia in the first two days of life, positive immunohematologic test for newborns and exchange transfusion. Exclusion criteria were: incomplete information, other accompanying diseases that induce hyperbilirubinemia. All newborn infants received phototherapy before and after exchange transfusion. We did not use intravenous immunoglobulin, hemoxygenase inhibitor drugs and blood products before exchange transfusion.Results: Double-volume exchange transfusion via umbilical cord catheter was performed in 96 patients, 19 (20% of whom suffered from ABO incompatibility. Of these 19 newborns, two-thirds (13 were preterm infants. The minimum level of serum bilirubin was 10 mg/dl and the maximum serum bilirubin level was 35 mg/dl. In six patients (32% serum bilirubin levels were >25mg/dl. The most common blood group was type A for newborns. Immunohematologic tests were positive in 84% of the mothers. ABO incompatibility hemolytic disease was the fourth and second most common reasons for blood exchange transfusion in preterm and term infants, respectively. Laboratory complications were more common than clinical complications. The etiology of 48% of the alloimmunization and 42% of the hemolytic disease in these newborns was ABO incompatibility.Conclusions: Mothers with blood group O and newborns with blood group A or B with positive immunohematologic tests in first hours of life are at high risk for hemolytic disease

  9. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does how...... of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting....

  10. Oncologic Management of Hereditary Colorectal Cancer

    OpenAIRE

    Yacoub, George; Nagalla, Srikanth; Aklilu, Mebea

    2012-01-01

    Colorectal cancer (CRC) is the second most common cancer in females and the third most common cancer diagnosed in males. Familial CRC comprises ~20 to 30% of all CRC cases. Lynch syndrome (LS), previously called hereditary nonpolyposis CRC (HNPCC), is the most common of the hereditary CRC syndromes. In this review, the oncological management of hereditary colorectal cancer from the medical oncologist perspective is discussed with special emphasis on Lynch syndrome. Lynch syndrome is character...

  11. SUCCESSFUL TREATMENT FOR ATYPICAL HEMOLYTIC UREMIC SYNDROME IN A PUERPERA

    Directory of Open Access Journals (Sweden)

    O. N. Ulitkina

    2015-01-01

    Full Text Available Objective: to show the problems of differential diagnosis and treatment of atypical hemolytic-uremic syndrome in a 23-year-old patient.Results. Eculizumab (Soliris, (Alexon Pharmaceuticals Inc., USA that is a glycosylated humanized monoclonal antibody to immunoglobulins (IgG2/4k is shown to be effective in treating this disease.Conclusion. Atypical hemolytical-uremic syndrome in pregnancy is a disease, whose treatment difficulties are largely associated with the problem of differential diagnosis with thrombotic thrombocytopenic purpura and man-ifestations of multiple organ dysfunction. The treatment for this disease gives a key role to Eculizumab.

  12. Genetics Home Reference: hereditary multiple osteochondromas

    Science.gov (United States)

    ... Health Topic: Benign Tumors Health Topic: Bone Diseases Genetic and Rare Diseases Information Center (1 link) Hereditary multiple osteochondromas Educational Resources (6 links) Cleveland Clinic: ...

  13. Genetics Home Reference: hereditary hemorrhagic telangiectasia

    Science.gov (United States)

    ... Osler-Weber-Rendu syndrome Health Topic: Arteriovenous Malformations Genetic and Rare Diseases Information Center (1 link) Hereditary hemorrhagic telangiectasia Additional NIH Resources (1 link) National ...

  14. SEOM clinical guidelines for hereditary cancer.

    Science.gov (United States)

    Graña, Begoña; Lastra, Enrique; Llort, Gemma; Brunet, Joan; Isla, Dolores

    2011-08-01

    Research in genetics has facilitated the identification of highly penetrant genes responsible for a large number of diseases. In the oncology field, genetic counselling and gene testing are focused on the two most common syndromes in familial cancer: hereditary breast and ovarian cancer syndrome (HBOC) and hereditary non-polyposis colorectal cancer or Lynch syndrome (LS). The objective of this guideline in hereditary cancer is to summarise the current state of knowledge and make recommendations in the areas of diagnosis, prevention and treatment of hereditary cancer.

  15. CLINICAL PROFILE OF ANAEMIA IN A TERTIARY CARE HOSPITAL

    Directory of Open Access Journals (Sweden)

    Ather Akhtar

    2016-04-01

    Full Text Available BACKGROUND Anaemia causes a reduction in the oxygen carrying capacity of the blood resulting in tissue hypoxia. Cardiac output at rest is not usually increased in most chronic anaemia until haemoglobin levels fall below 7 g/dL, but abnormal rise in output with exercise may occur with levels as high as 10 g/dL. The increase in cardiac output has been observed to correlate well with the degree of anaemia. Other compensatory mechanisms to chronic anaemia available to the body include decreased circulation time and increased tissue oxygen uptake. The latter is facilitated by a shift to the right of the oxygen haemoglobin dissociation curve. Cardiomegaly may also be as a result of the increased workload on the heart from the increased viscosity of blood in anaemia patients. Anaemia in the elderly is an extremely common problem that is associated with increased mortality and poorer health-related quality of life, regardless of the underlying cause of the low haemoglobin. A study of anaemia in elderly patients found a wide variation in prevalence, ranging from 2.9% to 61% in men and 3.3% to 41% in women. Higher rates were found in hospitalised patients than in community dwellers. It is easy to overlook anaemia in the elderly, since such symptoms as fatigue, weakness, or shortness of breath may be attributed to the ageing process itself. Our objective is to show the prevalence of anaemia even in a tertiary health care centre. METHODS One hundred patients were identified who were admitted in the Department of Medicine, Deccan College of Medical Sciences. Among the 100 patients, 38 were male and 62 were female. The study was conducted from Jan 2014 To Jan 2015. Patients having haemoglobin less than 10 g% in the medical wards were enrolled in the study. RESULTS Among the 100 patients, 38 were male and 62 were female. The average haemoglobin was 6.4 g%, the lowest being 2.8 g%. Peripheral blood smear showed hypochromic picture in 58, macrocytic picture in

  16. Prolactinoma presenting as chronic anaemia with osteoporosis: a case report

    Directory of Open Access Journals (Sweden)

    Hanley John P

    2010-02-01

    Full Text Available Abstract Introduction Unexplained anaemia is a rare mode of presentation for prolactinoma. We describe a case of a man, with chronic anaemia ascribed to old age. Six years later, he was evaluated and diagnosed with a prolactinoma and resultant osteoporosis. Prolactinoma in old people may present insidiously with chronic anaemia and osteoporosis with or without sexual dysfunction. Case presentation We describe the case of a 70-year-old Caucasian man who presented with mild anaemia and tiredness. His anaemia was investigated and ascribed to senescence. Endocrine causes were not considered or tested for. Six years later, he was again referred. Reassessment and direct questioning revealed long-standing sexual dysfunction. It was also discovered that our patient had fractured his radius twice, with minor trauma, during the preceding year. His serum prolactin was massively increased and a magnetic resonance imaging (MRI scan of the head demonstrated a pituitary mass consistent with a prolactinoma. Dual X-ray absorptiometry revealed osteoporosis. Treatment of the prolactinoma led to a reduction in his serum prolactin with a rise in his haemoglobin to normal levels. This suggested that the prolactinoma was present during the initial presentation and was the cause of his anaemia. Conclusion This case highlights the importance of fully evaluating and investigating unexplained anaemia in older people and that endocrine causes should be considered. Osteoporosis also requires evaluation with secondary causes considered.

  17. Anaemia prevalence may be reduced among countries that fortify flour.

    Science.gov (United States)

    Barkley, Jonathan S; Wheeler, Kathleen S; Pachón, Helena

    2015-07-01

    The effectiveness of flour fortification in reducing anaemia prevalence is equivocal. The goal was to utilise the existing national-level data to assess whether anaemia in non-pregnant women was reduced after countries began fortifying wheat flour, alone or in combination with maize flour, with at least Fe, folic acid, vitamin A or vitamin B12. Nationally representative anaemia data were identified through Demographic and Health Survey reports, the WHO Vitamin and Mineral Nutrition Information System database and other national-level nutrition surveys. Countries with at least two anaemia surveys were considered for inclusion. Within countries, surveys were excluded if altitude was not consistently adjusted for, or if the blood-draw site (e.g. capillary or venous) or Hb quantification method (e.g. HemoCue or Cyanmethaemoglobin) differed. Anaemia prevalence was modelled for countries that had pre- and post-fortification data (n 12) and for countries that never fortified flour (n 20) using logistic regression models that controlled for time effects, human development index (HDI) and endemic malaria. After adjusting for HDI and malaria, each year of fortification was associated with a 2.4% reduction in the odds of anaemia prevalence (PR 0.976, 95% CI 0.975, 0.978). Among countries that never fortified, no reduction in the odds of anaemia prevalence over time was observed (PR 0.999, 95% CI 0.997, 1.002). Among both fortification and non-fortification countries, HDI and malaria were significantly associated with anaemia (P,0.001). Although this type of evidence precludes a definitive conclusion, results suggest that after controlling for time effects, HDI and endemic malaria, anaemia prevalence has decreased significantly in countries that fortify flour with micronutrients, while remaining unchanged in countries that do not.

  18. Role of detection of microsatellite instability in Chinese with hereditary nonpolyposis colorectal cancer or ordinary hereditary colorectal cancer

    OpenAIRE

    Liu, Wen-Zhi; Jin, Feng; ZHANG, ZHEN-HAI; Wang, Shu-Bao

    2006-01-01

    AIM: To detect microsatellite instability (MSI) in patients with hereditary nonpolyposis colorectal cancer or ordinary hereditary colorectal cancer and to provide criteria for screening the kindreds with hereditary nonpolyposis colorectal cancer at molecular level.

  19. [Severe macrocytic anaemia and secondary hyperparathyroidism in a vegan].

    Science.gov (United States)

    Førland, Elizabeth Siren Bjerga; Lindberg, Mats Jacob Hermansson

    2015-08-10

    Nutritional deficiency anaemia in vegans is common and usually due to lack of vitamin B12, as this vitamin is found almost exclusively in animal-based food products. In this case report we present a 39-year-old male vegan with severe macrocytic anaemia due to vitamin B12 deficiency as well as secondary hyperparathyroidism due to severe vitamin D deficiency. We want to emphasize the importance of a detailed nutritional history for patients with anaemia, and the need for vitamin B12 and vitamin D supplements for people who comply with a vegan diet.

  20. Hemolytic uremic Syndrome.Presentation of case | Sanchez ...

    African Journals Online (AJOL)

    Journal of the Eritrean Medical Association. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 2, No 1 (2007) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Hemolytic uremic Syndrome.Presentation of ...

  1. Hemolytic anemia after atrioventricular septal defect repair without synthetic material.

    Science.gov (United States)

    Tsang, J C; Shum-Tim, D; Tchervenkov, C I; Jutras, L; Sinclair, B

    1999-11-01

    We report a rare case of severe hemolytic anemia following repair of a congenital heart defect without the use of prosthetic material. A review of the literature, diagnosis, and management are described. Although this is an unusual complication following congenital heart surgery, a high index of suspicion must be maintained and a possible mechanical cause should be sought and corrected.

  2. Hodgkin’s lymphoma presenting as autoimmune hemolytic anemia

    Directory of Open Access Journals (Sweden)

    Sohaila Fatima

    2017-01-01

    Full Text Available Hodgkin’s lymphoma is a B-cell neoplasm, which usually presents with painless lymphadenopathy. Its presentation with autoimmune hemolytic anemia (AIHA is rare, although the association of AIHA with other lymphoproliferative disorders is well known. Here, we report a case of a patient with warm AIHA who presented in a critical condition to hospital and was diagnosed with HL.

  3. Antimicrobial, hemolytic and thrombolytic activities of some new N ...

    African Journals Online (AJOL)

    Keywords: Piper nigrum, Piperine, Propanamide, Hemolytic, Thrombolytic, Black pepper. Tropical Journal of Pharmaceutical Research is indexed by ... Piper nigrum L. belongs to the family Piperaceae and has multiple uses in the food .... rifampicin, and antifungal activity against. Aspergillus niger (locally isolated), with the.

  4. Autoimmune mechanisms in pernicious anaemia & thyroid disease.

    Science.gov (United States)

    Osborne, David; Sobczyńska-Malefora, Agata

    2015-09-01

    Pernicious anaemia (PA) and some types of thyroid disease result from autoimmune processes. The autoimmune mechanisms in these conditions have not been fully elucidated. This review discusses the autoimmune mechanisms involved in PA and how these affect diagnosis and disease progression. In addition to gastric antibodies, antibodies to the vitamin B12 binding protein transcobalamin which can result in high serum B12 levels are also addressed with regard to how they affect clinical practice. The role of autoimmune susceptibility is investigated by comparing PA to one of its most common comorbidities, autoimmune thyroid disease (AITD). Thyroid disease (although not exclusively AITD) and B12 deficiency are both also implicated in the pathology of hyperhomocysteinemia, an elevated homocysteine in plasma. Since hyperhomocysteinemia is a risk factor for cardiovascular occlusive disease, this review also addresses how thyroid disease in particular leads to changes in homocysteine levels. Copyright © 2015 Elsevier B.V. All rights reserved.

  5. [Hereditary breast and ovarian cancer].

    Science.gov (United States)

    Lax, S F

    2017-05-01

    Hereditary breast and ovarian carcinomas are frequently caused by germline mutations of the BRCA1 and BRCA2 genes (BRCA1/2 syndromes) and are often less associated with other hereditary syndromes such as Li-Fraumeni and Peutz-Jeghers. The BRCA1/2 proteins have a special role in DNA repair. Therefore, loss of function due to mutation causes an accumulation of mutations in other genes and subsequent tumorigenesis at an early age. BRCA1/2 mutations are irregularly distributed over the length of the genes without hot spots, although special mutations are known. Breast and ovarian cancer occur far more frequently in women with BRCA1/2 germline mutations compared with the general population. Breast cancer occurs increasingly from the age of 30, ovarian cancer in BRCA1 syndrome from the age of 40 and BRCA2 from the age of 50. Suspicion of a BRCA syndrome should be prompted in the case of clustering of breast cancer in 1st degree relatives, in particular at a young age, if breast and ovarian cancer have occurred, and if cases of male breast cancer are known. Breast carcinomas with medullary differentiation seem to predominate in BRCA syndromes, but other carcinoma types may also occur. BRCA germline mutations seem to occur frequently in triple-negative breast carcinomas, whereas an association with ductal carcinoma in situ (DCIS) is rare. Ovarian carcinomas in BRCA syndromes are usually high-grade serous, mucinous carcinomas and borderline tumors are unusual. Pathology plays a special role within the multidisciplinary team in the recognition of patients with hereditary cancer syndromes.

  6. Hereditary breast and ovarian cancer

    DEFF Research Database (Denmark)

    Nielsen, Finn Cilius; Hansen, Thomas van Overeem; Sørensen, Claus Storgaard

    2016-01-01

    Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among...... of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making....... affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing...

  7. Hereditary & familial colorectal cancer : Identification, characteristics, surveillance

    NARCIS (Netherlands)

    Kallenberg, F.G.J.

    2017-01-01

    Of all colorectal cancer (CRC) cases, 15-20% is related to familial or hereditary factors. Diagnosing familial and hereditary CRC syndromes is important for several reasons. One of these is that surveillance colonoscopies can reduce CRC incidence and mortality importantly. A complete family history

  8. Hereditary cerebral small vessel disease and stroke

    DEFF Research Database (Denmark)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup

    2017-01-01

    Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this system...

  9. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria...

  10. Anaemia impedes functional mobility after hip fracture surgery

    DEFF Research Database (Denmark)

    Foss, N.B.; Kristensen, M.T.; Kehlet, H.

    2008-01-01

    BACKGROUND: the impact of anaemia on the outcome after a hip fracture surgery is controversial, but anaemia can potentially decrease the physical performance and thereby impede post-operative rehabilitation. We therefore conducted a prospective study to establish whether anaemia affected functional...... mobility in the early post-operative phase after a hip fracture surgery. PATIENTS AND METHODS: four hundred and eighty seven consecutive hip fracture patients, treated according to a well-defined multimodal rehabilitation programme with a uniform, liberal transfusion threshold, were studied. Hb...... mobility in the early post-operative phase after a hip fracture surgery and is an independent risk factor for patients not being able to walk post-operatively. The potential for a liberal transfusion policy to improve the rehabilitation potential in hip fracture patients with anaemia should be investigated...

  11. IS OBESITY ASSOCIATED WITH ANAEMIA IN KIDNEY TRANSPLANT RECIPIENTS

    Directory of Open Access Journals (Sweden)

    Winnie Chan

    2012-06-01

    This study demonstrated that overall adiposity correlates positively with inflammation but this is not applicable to indices of visceral fat. However, no correlation was established between obesity and anaemia in this study.

  12. Treatment for women with postpartum iron deficiency anaemia

    DEFF Research Database (Denmark)

    Markova, Veronika; Norgaard, Astrid; Jørgensen, Karsten Juhl

    2015-01-01

    BACKGROUND: Postpartum iron deficiency anaemia is caused by bleeding or inadequate dietary iron intake/uptake. This condition is defined by iron deficiency accompanied by a lower than normal blood haemoglobin concentration, although this can be affected by factors other than anaemia and must...... and harms of the available treatment modalities for women with postpartum iron deficiency anaemia. SEARCH METHODS: The Cochrane Pregnancy and Childbirth Group's Trials Register (9 April 2015); the WHO International Clinical Trials Registry Portal (ICTRP), and the Latin-American and Caribbean Health Sciences...... for postpartum iron deficiency anaemia, including trials described in abstracts only. Cluster-randomised trials were eligible for inclusion. We included both open-label trials and blinded trials, regardless of who was blinded. The participants were women with a postpartum haemoglobin of 120 g per litre (g...

  13. THE IMMUNOLOGICAL CHARACTERISTIC OF RA PATIENTS WITH ANAEMIA

    Directory of Open Access Journals (Sweden)

    A. E. Sizikov

    2014-07-01

    Full Text Available Abstract. The aim of the investigation was to study the immunological characteristics of RA patients with anaemia. Clinical and laboratory data including the percentage of the main lymphocyte subclasses, phagocyte and DTH-effector activity, serum concentration of immunoglobulins, the percentage of cells producing IFNγ and/or IL-4 and percent of monocytes producing TNF. We revealed some significant clinical, laboratory and immunological differences between RA patients and healthy donors and between patients with and without anaemia. Our data demonstrate RA anemic patients to have more severe disorders than patients without anaemia. We also revealed some significant immunological differences between RA patients and healthy donors and between patients with and without anaemia, including percent of cells producing IFNγ and/or IL-4. Our data permit to conclude that RA patients have many different immunological disturbances, more severe in anaemic patients.

  14. Investigation of manganese homeostasis in dogs with anaemia and ...

    African Journals Online (AJOL)

    Investigation of manganese homeostasis in dogs with anaemia and chronic enteropathy. Marisa da Fonseca Ferreira, Arielle Elizabeth Ann Aylor, Richard John Mellanby, Susan Mary Campbell, Adam George Gow ...

  15. The molecular classification of hereditary endocrine diseases.

    Science.gov (United States)

    Ye, Lei; Ning, Guang

    2015-12-01

    Hereditary endocrine diseases are an important group of diseases with great heterogeneity. The current classification for hereditary endocrine disease is mostly based upon anatomy, which is helpful for pathophysiological interpretation, but does not address the pathogenic variability associated with different underlying genetic causes. Identification of an endocrinopathy-associated genetic alteration provides evidence for differential diagnosis, discovery of non-classical disease, and the potential for earlier diagnosis and targeted therapy. Molecular diagnosis should be routinely applied when managing patients with suspicion of hereditary disease. To enhance the accurate diagnosis and treatment of patients with hereditary endocrine diseases, we propose categorization of endocrine diseases into three groups based upon the function of the mutant gene: cell differentiation, hormone synthesis and action, and tumorigenesis. Each category was further grouped according to the specific gene function. We believe that this format would facilitate practice of precision medicine in the field of hereditary endocrine diseases.

  16. prevalence and risk factors of nutritional anaemia among

    African Journals Online (AJOL)

    Win7Ent

    2013-06-03

    Jun 3, 2013 ... from a diet deficient in folate, protein, copper, cobalt, zinc, vitamins A, E, B2, B6, B12 and ascorbic acid [8, .... RESULTS. There was a high prevalence (45.9%) of mild to moderate anaemia among all the girls. (Table 1). There were more cases of mild (37.6%) than moderate (8.3%) anaemia and no cases of ...

  17. Association of anaemia with micronutrient (iron, folate and Vitamin ...

    African Journals Online (AJOL)

    The frequency of anaemia was 79.4%. This is much higher than the WHO prevalence of 67.6% in Africa for anaemia to be taken as a disease of public health importance. The proportion of iron deficiency was 41.0%, folate deficiency was 8.6% and vitamin B12 deficiency was 3.4% of 290 recruited patients. Around 16% ...

  18. Role of cytokines in Trypanosoma brucei-induced anaemia: A ...

    African Journals Online (AJOL)

    Publications on the cytokines studied in trypanosomiasis-associated anaemia ordered by year. Publication. Infecting trypanosome. Clinical sample. Cytokines. Other factors associated with anaemia. Magez et al. 1999. T.b.b AnTat1.1E. Blood from TNF-α -/-. TNF-α. -. Namangala et al. 2001. T.b.b AnTat1.1E. T.b.b PLC-/-.

  19. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.

    Science.gov (United States)

    Russo, Roberta; Andolfo, Immacolata; Manna, Francesco; Gambale, Antonella; Marra, Roberta; Rosato, Barbara Eleni; Caforio, Paola; Pinto, Valeria; Pignataro, Piero; Radhakrishnan, Kottayam; Unal, Sule; Tomaiuolo, Giovanna; Forni, Gian Luca; Iolascon, Achille

    2018-02-03

    Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively. Seventy-four probands from 62 unrelated families were investigated. Our study includes the most comprehensive gene set for these anemias and the largest cohort of patients described so far. We obtained an overall diagnostic yield of 64.9%. Despite 54.2% of cases showed conclusive diagnosis fitting well to the clinical suspicion, the multi-gene analysis modified the original clinical diagnosis in 45.8% of patients (nonmatched phenotype-genotype). Of note, 81.8% of nonmatched patients were clinically suspected to suffer from CDA. Particularly, 45.5% of the probands originally classified as CDA exhibited a conclusive diagnosis of chronic anemia due to enzymatic defects, mainly due to mutations in PKLR gene. Interestingly, we also identified a syndromic CDA patient with mild anemia and epilepsy, showing a homozygous mutation in CAD gene, recently associated to early infantile epileptic encephalopathy-50 and CDA-like anemia. Finally, we described a patient showing marked iron overload due to the coinheritance of PIEZO1 and SEC23B mutations, demonstrating that the multi-gene approach is valuable not only for achieving a correct and definitive diagnosis, but also for guiding treatment. © 2018 Wiley Periodicals, Inc.

  20. CLINICAL PROFILE AND COMMON CAUSES OF HAEMOLYTIC ANAEMIA IN A TERTIARY CARE HOSPITAL, NORTHERN KERALA

    Directory of Open Access Journals (Sweden)

    Jog Antony

    2016-09-01

    Full Text Available BACKGROUND Haemolytic anaemia is a well-recognised clinical problem. This study looks into the clinical profile of haemolytic anaemia and also attempts to find out the common underlying causative disease. It also tries to group the patients according to the clinical manifestations and underlying causes. MATERIALS AND METHODS This is a hospital-based observational study conducted in a tertiary care centre in Northern Kerala. Forty-four adult patients with clinical manifestations and laboratory evidence of haemolytic anaemia were identified and studied for a period of one year. RESULTS Maximum number of cases were seen in the age group of 20-40 years. The overall male-female ratio was 1.1:1. The most common presenting symptoms were features of anaemia like breathlessness, easy fatigability, headache and tiredness. Family history of anaemia was present in 34.1%. The most common signs observed were pallor and jaundice. The most common causes were autoimmune haemolytic anaemia and sickle cell anaemia. CONCLUSION Haemolytic anaemia mostly affects individuals in their 3rd and 4th decade. There is no significant difference in gender distribution of haemolytic anaemia. Haemolytic anaemia most commonly presents with symptoms of anaemia and jaundice. Commonest causes of haemolytic anaemia are autoimmune haemolytic anaemia and sickle cell anaemia.

  1. Propolis influence on erythrocyte membrane disorder (hereditary spherocytosis): a first approach.

    Science.gov (United States)

    Moreira, Leandro L; Dias, Teresa; Dias, Luís G; Rogão, Mónica; Da Silva, José P; Estevinho, Letícia M

    2011-02-01

    Propolis is a resinous substance collected from plants by bees. Its composition depends on the vegetation, the season, and the source area. It usually contains many chemical compounds such as polyphenols, steroids and amino acids. The hereditary spherocytosis (HS) is a type of anaemia characterized by microcytic and hyperchromic red cells, spherical in shape and without central pallor. Clinically, subjects present from asymptomatic conditions to severe haemolytic anaemia. In this study it was evaluated the effect of two propolis extracts in the osmotic fragility of HS patient red blood cell (RBC) membrane. It was found that propolis decreases the erythrocytes membrane fragility, being the effect of Bornes propolis more pronounced than Fundão propolis'. This effect was related with the higher phenolic content of the former propolis. The results obtained in vitro suggest that the membrane fragility increases under oxidative stress conditions for the patient RBC's and the protection effect of propolis is due to its antioxidant properties. These results open doors for future investigations in order to elucidate the mechanisms, identify the main compounds involved in this fragility protection of the erythrocyte membrane. This is the first work reporting an evaluation of the propolis effect in a blood disease. Copyright © 2010 Elsevier Ltd. All rights reserved.

  2. Intraclutch variation in avian eggshell pigmentation: the anaemia hypothesis.

    Science.gov (United States)

    De Coster, Greet; De Neve, Liesbeth; Lens, Luc

    2012-10-01

    Many passerine species lay eggs that are speckled with dark protoporphyrin pigmentation. Because protoporphyrin is mainly derived from the blood, we here formulate and test a new hypothesis that links an increase in anaemia along the laying sequence to within-clutch variation in egg pigmentation. More intense pigmentation is expected if pigments accumulate during enhanced red blood cell production in response to anaemia. Reduced pigmentation is expected if pigments are derived from the degradation of red blood cells that circulate in smaller numbers due to blood loss. To test this hypothesis, we manipulated anaemia in great tit (Parus major) females by infesting the nests with hen fleas (Ceratophyllus gallinae) prior to egg laying. Polychromatophil (i.e., immature red blood cells) percentage, as a measure of blood cell production, was positively correlated with parasite load confirming that female great tits experienced stronger anaemia when infested with haematophagous parasites during egg laying. We found a positive relationship between spot darkness and laying order that weakened under high parasite load. This result suggests that anaemia in females due to blood-sucking parasites led to diminished protoporphyrin from disintegrated red blood cells and hence a decreased deposition of protoporphyrin. However, the overall increase in pigment darkness along the laying sequence suggests that pigments also accumulate by enhanced red blood cell production caused by anaemia due to egg production itself.

  3. MATERNAL ANAEMIA AND NEWBORN MORBIDITY IN A TERTIARY HOSPITAL

    Directory of Open Access Journals (Sweden)

    Garuda Rama

    2017-02-01

    Full Text Available BACKGROUND Anaemia is the commonest nutritional deficiency disorder in the world and in India prevalence in pregnancy is 50-80%. It is a risk factor for preterm delivery, low birth weight, stillbirth and foetal anaemia. The aim of the study is to find out correlation between maternal and cord haemoglobin and birth weight of newborn. MATERIALS AND METHODS Prospective observational study of 150 pregnant women delivering in KIMS from December 2014 to June 2016 for antenatal and newborn haemoglobin and newborn weight. RESULTS Of 150 mothers, 89.33% are anaemic (24% mild, 44% moderate and 21.3% severe. The incidence of low birth weight and low cord haemoglobin varied directly with severity of anaemia. Out of 150 babies, 119 (79.3% of babies had anaemia in our study. The mean haemoglobin among babies was 12.9 g/dL with a S.D. of 2.01. CONCLUSION A significant positive correlation with maternal haemoglobin and newborn weight and cord haemoglobin. RecommendationAntenatal prophylaxis with iron and folic acid to prevent anaemia and incidence of low birth weight and infantile anaemia.

  4. Changes in the hemolytic activity of Candida species by common electrolytes.

    Science.gov (United States)

    Wan, Lei; Luo, Gang; Lu, Haibin; Xuan, Dongying; Cao, Hong; Zhang, Jincai

    2015-08-22

    Hemolysins are crucial virulence factors which help pathogens to survive and persist in the host. This study investigated whether common electrolytes will affect the hemolysins of Candida species. The hemolysins from 25 Candida isolates were investigated using a plate specially designed for Candida species in the presence of three electrolytes, CaCl2, NaCl and KCl, at different concentrations. The hemolytic activity was determined after 48 h and the hemolytic index was calculated. All three electrolytes caused a decrease in the hemolytic activity. Significant differences existed between varying concentrations of NaCl, while no significant differences existed for the CaCl2 and KCl groups. Additionally, the peripheral hemolytic index was highly correlated with the hemolytic index (r = 0.656, p electrolytes reduce hemolysis by Candida species and a correlation exists between the peripheral hemolytic index and the translucent hemolytic index.

  5. The influence of vitamin A status on iron-deficiency anaemia in anaemic adolescent schoolgirls in Myanmar.

    Science.gov (United States)

    Htet, Min Kyaw; Fahmida, Umi; Dillon, Drupadi; Akib, Arwin; Utomo, Budi; Thurnham, David I

    2014-10-01

    The present study was conducted to investigate reasons for the high prevalence of anaemia among adolescent schoolgirls and to elucidate the role of vitamin A in contributing to Fe-deficiency anaemia (IDA). Among 1269 schoolgirls who were previously screened for anaemia (Hb anaemia (30·4%) was IDA. Prevalence of low vitamin A status (serum retinol anaemia in the present population. The role of vitamin A as well as other micronutrients should be taken into account in addressing the problem of anaemia.

  6. Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.

    Science.gov (United States)

    Ben Ameur, Salma; Aloulou, Hajer; Nasrallah, Fehmi; Kamoun, Thouraya; Kaabachi, Naziha; Hachicha, Mongia

    2015-02-01

    Glutathione synthetase deficiency (GSSD) is a rare disorder of glutathione metabolism with varying clinical severity. Patients may present with hemolytic anemia alone or together with acidosis and central nervous system impairment. Diagnosis is made by clinical presentation and detection of elevated concentrations of 5-oxoproline in urine and low glutathione synthetase activity in erythrocytes or cultured skin fibroblasts. The prognosis seems to depend on early diagnosis and treatment. We report a 4 months old Tunisian male infant who presented with severe metabolic acidosis with high anion gap and hemolytic anemia. High level of 5-oxoproline was detected in her urine and diagnosis of GSSD was made. Treatment consists of the correction of acidosis, blood transfusion, and supplementation with antioxidants. He died of severe metabolic acidosis and sepsis at the age of 15 months.

  7. Evaluation of anticonvulsant, antimicrobial and hemolytic activity of Aitchisonia rosea

    Directory of Open Access Journals (Sweden)

    Shahid Rasool

    2015-12-01

    Full Text Available The purpose of this study was to evaluate the anticonvulsant, antimicrobial and hemolytic effect of Aitchisonia rosea. The anticonvulsant effect was studied at doses 400 and 800 mg/kg against pentylenetetrazole, strychnine and picrotoxin-induced seizures in albino mice. The antimicrobial assay was conducted by disc diffusion method and minimum inhibitory concentration. Hemolytic effect was analyzed by reported method. Phenolic compounds present in the n-butanol fraction of the plant were estimated by HPLC. The plant showed maximum response against drug-induced convulsions and provided protection to animals at both doses. It also showed maximum zone of inhibition and highly significant MIC against all bacterial and fungal strains. The plant protected the RBCs from hemolysis. The highest amount of phenolics found was caffeic acid (7.5 ± 0.04.

  8. [Occurrence and drug-resistance of beta-hemolytic streptococci].

    Science.gov (United States)

    Mikołajczyk, Dorota; Budzyńska, Anna; Kaczmarek, Agnieszka; Gospodarek, Eugenia

    2007-01-01

    The aim of this study was the analysis of drug-resistance and frequency appearance of beta-hemolytic streptococci strains which were isolated in 2003-2005 in the University Hospital at the L. Rydygier Collegium Medicum in Bydgoszcz University of Nicolaus Copernicus in Toruń. Among investigeted beta-hemolytic streptococci the most frequency isolated species was S. agalactiae. All isolates examined in our study were susceptible to penicillin, the higest rate of resistance was found for tetracycline. The rates of resistence to macrolide-lincosamide-streptogramin B (phenotyp MLS(B)) were as follows: S. agalactiae (18.7%), S. pyogenes (10.1%), group G streptococci (10.6%) and group C streptococci (8.0%). In our study we presented also a special case patient from which in investigeted period S. agalactiae was isolated twenty eight times. For ten chromosomal DNA isolated from this patient three different PFGE profiles were obtained.

  9. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does...... however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...

  10. Hereditary colorectal cancer syndromes and genetic testing.

    Science.gov (United States)

    Macaron, Carole; Leach, Brandie H; Burke, Carol A

    2015-01-01

    Colorectal cancer (CRC) is a leading cause of cancer and cancer deaths in the Western world. Approximately 5-10% of CRC are hereditary, due to a defined genetic cause. Individuals and families affected with a hereditary CRC syndrome exhibit benign and malignant extra-intestinal tumors, require aggressive cancer screening and benefit from management by a multi-disciplinary team of professionals. The clinical manifestations, genetic causes and current management of patients with hereditary colon cancer syndrome is provided. © 2014 Wiley Periodicals, Inc.

  11. Nutritional anaemia dysregulates endocrine control of fetal growth.

    Science.gov (United States)

    Mahajan, S; Aalinkeel, R; Shah, P; Singh, S; Gupta, N; Kochupillai, N

    2008-08-01

    Severe anaemia is associated with increased low birth weight and Barker's hypothesis of 'fetal origins' proposes that a nutritional insult during critical periods of development results in adaptations that predispose individuals to adult onset diseases. We hypothesize that endocrine alterations may occur in the maternal-fetal milieu as a consequence of nutritional anaemia during pregnancy. We examined the quantitative variations in hormonal profiles in paired maternal and cord blood samples obtained from mothers and their neonates who were classified based on maternal anaemia status. Our results show that: (1) 74.6 % of the mothers enrolled in the study were anaemic, of which 85.2 % had moderate anaemia and 14.7 % had severe anaemia; (2) anthropometric parameters measured in the mothers indicate that severely anaemic mothers had a significantly low pre- and post-pregnancy weight, a significantly decreased maternal fundal height and abdominal circumference; (3) anthropometric measures in the neonates born to severely anaemic mothers show a significant reduction in ponderal index, birth weight and placental weight; (4) significant increase in both maternal, fetal insulin-like growth factor 1, ferritin levels and increased maternal erythropoietin levels were observed with an increase in severity of anaemia; (5) decreased T3 and increased prolactin levels were observed in the maternal blood of severely anaemic mothers as compared with the control group. An insight into the endocrine modulation to overcome a growth disadvantage due to nutritional anaemia in pregnancy may lead to a better understanding of fetal adaptations invoked when the maternal-placental nutrient supply fails to meet the fetal nutrient demand.

  12. In vitro assessment of recombinant, mutant immunoglobulin G anti-D devoid of hemolytic activity for treatment of ongoing hemolytic disease of the fetus and newborn

    DEFF Research Database (Denmark)

    Nielsen, Leif K; Green, Trine H; Sandlie, Inger

    2008-01-01

    A specific treatment for ongoing hemolytic disease of the fetus and newborn (HDFN) due to anti-D would be very attractive. One approach could be administration to the mother of nonhemolytic anti-D, which by crossing the placenta can block the binding of hemolytic maternal anti-D....

  13. Follow-up of Thalidomide treatment in patients with Hereditary Haemorrhagic Telangiectasia.

    Science.gov (United States)

    Hosman, A; Westermann, C J J; Snijder, R; Disch, F; Mummery, C L; Mager, J J

    2015-12-01

    Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to weak-walled vessels. Haemorrhage in lungs or brain can be fatal but patients suffer most from chronic and prolonged nosebleeds (epistaxis), the frequency and intensity of which increases with age. Several years ago, it was discovered serendipitously that the drug Thalidomide had beneficial effects on the disease symptoms in several of a small group of HHT patients: epistaxis and the incidence of anaemia were reduced and patients required fewer blood transfusions. In addition, they reported a better quality of life. However, Thalidomide has significant negative side effects, including neuropathy and fatigue. We followed up all HHT patients in the Netherlands who had been taking Thalidomide at the time the original study was completed to find out (i) how many had continued taking Thalidomide and for how long (ii) the nature and severity of any side-effects and (iii) whether side-effects had influenced their decision to continue taking Thalidomide. Only a minority of patients had continued taking the drug despite its beneficial effects on their symptoms and that the side effects were the primary reason to stop. Despite symptom reduction, alternative treatments are still necessary for epistaxis in HHT patients and a large-scale clinical trial is not justified although incidental use in the most severely affected patients can be considered.

  14. A Web Server and Mobile App for Computing Hemolytic Potency of Peptides.

    Science.gov (United States)

    Chaudhary, Kumardeep; Kumar, Ritesh; Singh, Sandeep; Tuknait, Abhishek; Gautam, Ankur; Mathur, Deepika; Anand, Priya; Varshney, Grish C; Raghava, Gajendra P S

    2016-03-08

    Numerous therapeutic peptides do not enter the clinical trials just because of their high hemolytic activity. Recently, we developed a database, Hemolytik, for maintaining experimentally validated hemolytic and non-hemolytic peptides. The present study describes a web server and mobile app developed for predicting, and screening of peptides having hemolytic potency. Firstly, we generated a dataset HemoPI-1 that contains 552 hemolytic peptides extracted from Hemolytik database and 552 random non-hemolytic peptides (from Swiss-Prot). The sequence analysis of these peptides revealed that certain residues (e.g., L, K, F, W) and motifs (e.g., "FKK", "LKL", "KKLL", "KWK", "VLK", "CYCR", "CRR", "RFC", "RRR", "LKKL") are more abundant in hemolytic peptides. Therefore, we developed models for discriminating hemolytic and non-hemolytic peptides using various machine learning techniques and achieved more than 95% accuracy. We also developed models for discriminating peptides having high and low hemolytic potential on different datasets called HemoPI-2 and HemoPI-3. In order to serve the scientific community, we developed a web server, mobile app and JAVA-based standalone software (http://crdd.osdd.net/raghava/hemopi/).

  15. A Web Server and Mobile App for Computing Hemolytic Potency of Peptides

    Science.gov (United States)

    Chaudhary, Kumardeep; Kumar, Ritesh; Singh, Sandeep; Tuknait, Abhishek; Gautam, Ankur; Mathur, Deepika; Anand, Priya; Varshney, Grish C.; Raghava, Gajendra P. S.

    2016-03-01

    Numerous therapeutic peptides do not enter the clinical trials just because of their high hemolytic activity. Recently, we developed a database, Hemolytik, for maintaining experimentally validated hemolytic and non-hemolytic peptides. The present study describes a web server and mobile app developed for predicting, and screening of peptides having hemolytic potency. Firstly, we generated a dataset HemoPI-1 that contains 552 hemolytic peptides extracted from Hemolytik database and 552 random non-hemolytic peptides (from Swiss-Prot). The sequence analysis of these peptides revealed that certain residues (e.g., L, K, F, W) and motifs (e.g., “FKK”, “LKL”, “KKLL”, “KWK”, “VLK”, “CYCR”, “CRR”, “RFC”, “RRR”, “LKKL”) are more abundant in hemolytic peptides. Therefore, we developed models for discriminating hemolytic and non-hemolytic peptides using various machine learning techniques and achieved more than 95% accuracy. We also developed models for discriminating peptides having high and low hemolytic potential on different datasets called HemoPI-2 and HemoPI-3. In order to serve the scientific community, we developed a web server, mobile app and JAVA-based standalone software (http://crdd.osdd.net/raghava/hemopi/).

  16. Serratamolide is a hemolytic factor produced by Serratia marcescens.

    Directory of Open Access Journals (Sweden)

    Robert M Q Shanks

    Full Text Available Serratia marcescens is a common contaminant of contact lens cases and lenses. Hemolytic factors of S. marcescens contribute to the virulence of this opportunistic bacterial pathogen. We took advantage of an observed hyper-hemolytic phenotype of crp mutants to investigate mechanisms of hemolysis. A genetic screen revealed that swrW is necessary for the hyper-hemolysis phenotype of crp mutants. The swrW gene is required for biosynthesis of the biosurfactant serratamolide, previously shown to be a broad-spectrum antibiotic and to contribute to swarming motility. Multicopy expression of swrW or mutation of the hexS transcription factor gene, a known inhibitor of swrW expression, led to an increase in hemolysis. Surfactant zones and expression from an swrW-transcriptional reporter were elevated in a crp mutant compared to the wild type. Purified serratamolide was hemolytic to sheep and murine red blood cells and cytotoxic to human airway and corneal limbal epithelial cells in vitro. The swrW gene was found in the majority of contact lens isolates tested. Genetic and biochemical analysis implicate the biosurfactant serratamolide as a hemolysin. This novel hemolysin may contribute to irritation and infections associated with contact lens use.

  17. Hemolytic venoms from marine cnidarian jellyfish – an overview

    Science.gov (United States)

    Mariottini, Gian Luigi

    2014-01-01

    Cnidarian jellyfish are viewed as an emergent problem in several coastal zones throughout the world. Recurrent outbreaks pose a serious threat to tourists and bathers, as well as to sea-workers, involving health and economical aspects. As a rule, cnidarian stinging as a consequence of nematocyst firing induces merely local symptoms but cardiovascular or neurological complications can also occur. Hemolysis is a frequent effect of cnidarian stinging; this dangerous condition is known to be caused by several venoms and can sometimes be lethal. At present, the bulk of data concerning hemolytic cnidarian venoms comes from the study of benthic species, such as sea anemones and soft corals, but hemolytic factors were found in venoms of several siphonophore, cubozoan and scyphozoan jellyfish, which are mainly involved in the envenomation of bathers and sea-workers. Therefore, the aim of this paper is to review the scientific literature concerning the hemolytic venoms from cnidarian jellyfish taking into consideration their importance in human pathology as well as health implications and possible therapeutic measures. PMID:25386336

  18. [Hemolytic-uremic syndrome in the adult (author's transl)].

    Science.gov (United States)

    Montoliu, J; Darnell, A; Torras, A; Botey, A; Revert, L

    1980-01-10

    This article presents six cases of hemolytic-uremic syndrome, defined as the combination of acute renal insufficiency, microangiopathic hemolytic anemia, and thrombocytopenia, in six adult patients, two men and four women, between 20 and 52 years old. Three of the cases were considered idiopathic, two secondary to the use of oral contraceptives, and one appeared after an abortion. All of the patients presented severe hypertension, frequently accompanied by increased renin levels; in no cases was there any important coagulation disorder. In all of the biopsies there were lesions denoting intravascular thrombosis in the arterioles and medium-sized arteries of the kidney, as well as thickening of the glomerular basal membrane. Immunofluorescence was positive for fibrinogen and C3 in the majority of biopsies examined. Two patients suffered acute pancreatitis, hypertension having perhaps been an important factor in this complication. One of the two patients died as a result of acute hemorrhagic pancreatitis and was the only death in the series. Of the five remaining subjects, three required periodic hemodyalisis and the other two presented a considerable degree of chronic renal failure, which confirms that the prognosis for the hemolytic-uremic syndrome is much worse for the adult than for the child.

  19. Anaemia and radiation therapy; Anemie et radiotherapie

    Energy Technology Data Exchange (ETDEWEB)

    Denis, F. [Clinique d' Oncologie et de Radiotherapie, INSERM U619, 37 - Tours (France); Lartigau, E. [Centre de Lutte Contre le Cancer Oscar-Lambret, Dept. de Radiotherapie, 59 - Lille (France)

    2004-11-01

    Anaemia is frequent in cancer and may increase tumour hypoxia that stimulates angiogenesis. However, erythropoietin is a hypoxia-inducible stimulator of erythropoiesis which seems to improve quality of life in cancer patients. Two recent phase III randomized studies showed negative results using erythropoietin in head and neck cancer patients and in metastatic breast cancer patients with impaired specific survival. In vitro and in vivo experiments have provided erythropoietin-receptor expression in endothelial cancer cells including malignant tumours of the breast, prostate, cervix, lung, head and neck, ovary, melanoma, stomach, gut, kidney etc. Biologic effect of erythropoietin and its receptor linkage induces proliferation of human breast cancer and angiogenesis and may limit anti-tumour effect of cancer treatment, in part, by tumour vascularization improvement. In addition, the use of exogenous erythropoietin could be able to favour tumour progression by improving tumour oxygenation and nutriment supply. If erythropoietin receptor were functional in human cancer. the assessment of erythropoietin receptor expression on tumour cell may help to select patients benefiting from exogenous erythropoietin. However. the relationship between erythropoietin receptor expression, tumour growth and exogenous erythropoietin. requires more studies. The results of recent clinical trials suggest that using erythropoietin should be avoided in non-anemic patients and discussed in patients receiving curative therapy. (authors)

  20. Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family

    Directory of Open Access Journals (Sweden)

    Samin Alavi

    2015-09-01

    Full Text Available Human parvovirus (HPV B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease.

  1. Diagnostic Approach to Hereditary Colorectal Cancer Syndromes

    Science.gov (United States)

    Kalady, Matthew F.; Heald, Brandie

    2015-01-01

    Approximately 5 to 10% of colorectal cancers develop within a known hereditary syndrome. Specific underlying genetic mutations drive the clinical phenotype and it is imperative to determine the genetic etiology to provide meaningful surveillance and intervention. Recognizing potential patients and families with a hereditary predisposition is the first step in management. Syndromes can be categorized according to polyp burden as polyposis or nonpolyposis. Clinical assessment should start with a personal and family medical history, physical examination, and evaluation for the presence and type of colorectal polyps or cancers. Key information is gained from these simple steps and should guide the specific genetic analysis for diagnosis. Genetic counseling is a critical component to any hereditary colorectal cancer program and should be conducted before genetic testing to provide education about the implications of test results. This review focuses on the thought process that drives initial clinical evaluation and guides genetic testing for patients with suspected hereditary colorectal cancer syndromes. PMID:26664327

  2. How we manage persons with hereditary angioedema

    National Research Council Canada - National Science Library

    Zuraw, Bruce L; Christiansen, Sandra C

    2016-01-01

    Hereditary angioedema ( HAE ) is a rare autosomal dominant genetic disorder clinically characterized by recurrent attacks of subcutaneous and mucosal swelling that can result in significant morbidity and even mortality...

  3. Hereditary History Preserving Bisimilarity Is Undecidable

    DEFF Research Database (Denmark)

    Jurdzinski, Marcin; Nielsen, Mogens

    2000-01-01

    History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

  4. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  5. [Sudden blindness: consider Leber's hereditary optic neuropathy

    NARCIS (Netherlands)

    Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.

    2008-01-01

    In 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis Leber's hereditary optic neuropathy (LHON). LHON is a mitochondrial genetic

  6. Genetics Home Reference: hereditary antithrombin deficiency

    Science.gov (United States)

    ... may have an increased risk for pregnancy loss (miscarriage) or stillbirth. Related Information What does it mean ... Meer J. High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of ...

  7. [Anaemia in adopted children, not always iron deficiency].

    Science.gov (United States)

    Veneman, N G P; Waalkens, H J; Tamminga, R Y J

    2006-06-24

    Anaemia was diagnosed in four adopted children during a standard screening examination 1-4 weeks after arrival. Further investigation revealed a number of causes which could then be specifically treated. The children were a girl aged 14 months from China with iron-deficiency anaemia, a boy aged 16 months from Nigeria with sickle cell anaemia, a girl aged 5 from Haiti who had alpha-thalassaemia, and a boy aged 7 from Brazil with spherocytosis. Iron deficiency is the most common cause of anaemia in childhood. However, in adopted children from sub-tropical areas other causes of anaemia like haemoglobinopathies or erythrocyte membrane defects should be borne in mind, particularly as a history of disease and family history are often lacking. Additional investigations may be necessary. An incorrect diagnosis of iron deficiency may result in ongoing and unjustified iron supplementation leading to harmful iron accumulation in thalassaemia and a delay in the correct treatment in sickle cell anemia or spherocytosis which could carry considerable risk.

  8. The Genetics Of Blood Disorders: Hereditary Hemoglobinopathies.

    OpenAIRE

    Sonati M.F.; Costa F.F.

    2015-01-01

    Objective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population. Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. Summary of the findings: More than 2,000...

  9. A Review of Hereditary Fructose Intolerance

    Directory of Open Access Journals (Sweden)

    Mogoş Tiberius

    2016-03-01

    Full Text Available Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is often difficult, but not impossible.

  10. A Review of Hereditary Fructose Intolerance

    OpenAIRE

    Mogoş Tiberius; Iacobini Andra Evelin

    2016-01-01

    Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is...

  11. Prevalence of Anaemia, Deficiencies of Iron and Folic Acid and Their Determinants in Ethiopian Women

    OpenAIRE

    Haidar, Jemal

    2010-01-01

    A cross-sectional community-based study with analytic component was conducted among Ethiopian women during June-July 2005 to assess the magnitude of anaemia and deficiencies of iron and folic acid and to compare the factors responsible for anaemia among anaemic and non-anaemic cases. In total, 970 women, aged 15-19 years, were selected systematically for haematological and other important parameters. The overall prevalence of anaemia, iron deficiency, iron-deficiency anaemia, deficiency of fo...

  12. “The hidden hunger”: Understanding the burden of anaemia and its ...

    African Journals Online (AJOL)

    Anaemia is a global public health problem associated with increased mortality and morbidity. The highest prevalence of anaemia exists in the developing world where its causes are multi-factorial. The objective of the study was to assess the burden of anaemia and its determinants among pregnant and non-pregnant ...

  13. A study of risk factors for anaemia in pregnancy at the first antenatal ...

    African Journals Online (AJOL)

    Background: This study is justified because anaemia in pregnancy is very common in this country and it is a major cause of maternal and perinatal morbidity and mortality among our populace. Aim: To identify the risk factors for anaemia in pregnancy and evaluate the effects of these risk factors of anaemia in pregnancy ...

  14. Pica and refractory iron deficiency anaemia: a case report

    Directory of Open Access Journals (Sweden)

    von Garnier Christophe

    2008-10-01

    Full Text Available Abstract Introduction Iron deficiency is the most common cause of anaemia worldwide. Pica, the ingestion of substances that are inappropriate for consumption, is associated with iron deficiency and may be under-diagnosed. Case presentation A 34-year-old woman presented with iron deficiency anaemia refractory to treatment for more than a decade. The clinical presentation, endoscopic findings and laboratory investigations were consistent with pica. Subsequent geophysical analysis confirmed that the ingested material was kaolin, a negatively charged silicate. Conclusion Prolonged unexplained iron deficiency anaemia should prompt clinicians to remember and inquire about pica. In our patient, this would have averted numerous unnecessary investigations and prevented a decade-long suffering.

  15. Megaloblastic anaemia: Folic acid and vitamin B12 metabolism

    Directory of Open Access Journals (Sweden)

    H.B. Castellanos-Sinco

    2015-07-01

    Full Text Available Folic acid and cobalamin are B-group vitamins that play an essential role in many cellular processes. Deficiency in one or both of these vitamins causes megaloblastic anaemia, a disease characterized by the presence of megaloblasts. Megaloblasts occur when inhibition of DNA synthesis causes asynchronous maturation between the nucleus and the cytoplasm. Clinical manifestations are similar to those of other types of anaemia, with the exception of cobalamin deficiency megaloblastic anaemia, which presents distinctive neurological symptoms. An understanding of the metabolism of these vitamins will enable clinicians to make the best use and interpretation of laboratory studies and monitor therapeutic strategies, which consist mainly of administering supplements to restore body reserves.

  16. Hereditary sensory neuropathy type I

    Science.gov (United States)

    Auer-Grumbach, Michaela

    2008-01-01

    Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin

  17. Hereditary sensory neuropathy type I

    Directory of Open Access Journals (Sweden)

    Auer-Grumbach Michaela

    2008-03-01

    Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

  18. Pathophysiological mechanisms of severe anaemia in Malawian children.

    Directory of Open Access Journals (Sweden)

    Michaël Boele van Hensbroek

    2010-09-01

    Full Text Available Severe anaemia is a major cause of morbidity and mortality in African children. The aetiology is multi-factorial, but interventions have often targeted only one or a few causal factors, with limited success.We assessed the contribution of different pathophysiological mechanisms (red cell production failure [RCPF], haemolysis and blood loss to severe anaemia in Malawian children in whom etiological factors have been described previously. More complex associations between etiological factors and the mechanisms were explored using structural equation modelling. In 235 children with severe anaemia (haemoglobin<3.2 mMol/L [5.0 g/dl] studied, RCPF, haemolysis and blood loss were found in 48.1%, 21.7% and 6.9%, respectively. The RCPF figure increased to 86% when a less stringent definition of RCPF was applied. RCPF was the most common mechanism in each of the major etiological subgroups (39.7-59.7%. Multiple aetiologies were common in children with severe anaemia. In the final model, nutritional and infectious factors, including malaria, were directly or indirectly associated with RCPF, but not with haemolysis.RCPF was the most common pathway leading to severe anaemia, from a variety of etiological factors, often found in combination. Unlike haemolysis or blood loss, RCPF is a defect that is likely to persist to a significant degree unless all of its contributing aetiologies are corrected. This provides a further explanation for the limited success of the single factor interventions that have commonly been applied to the prevention or treatment of severe anaemia. Our findings underline the need for a package of measures directed against all of the local aetiologies of this often fatal paediatric syndrome.

  19. Radioisotopes of iron in investigation of anaemia in malnutrition

    Energy Technology Data Exchange (ETDEWEB)

    Ahmed, K. (Institute of Nuclear Medicine, Dacca (Bangladesh))

    1979-06-01

    Iron absorption from a simple breakfast meal by a normal adult was done by the whole body counting system and blood radioactivity measurement. Results seem to be in good agreement and both the methods are found to be standard for measurements of iron absorption from food. In iron deficiency anaemia associated with malnutrition improvement of nutritional condition has been found to increase both haemoglobin level and iron absorption possibly by way of improving the ability of intestinal mucosa to absorb more iron from food and by better utilization of iron by erythropoietic system. Thus improvement of nutritional status is a prerequisite to treatment of iron deficiency anaemia.

  20. Hereditary Predispositions to Myelodysplastic Syndrome

    Directory of Open Access Journals (Sweden)

    Sarah A. Bannon

    2016-05-01

    Full Text Available Myelodysplastic syndromes (MDS are heterogeneous clonal hematopoietic disorders characterized by ineffective hematopoiesis, bone marrow dysplasia, and peripheral cytopenias. Familial forms of MDS have traditionally been considered rare, especially in adults; however, the increasing availability of somatic and germline genetic analyses has identified multiple susceptibility loci. Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA, dyskeratosis congenita (DC, Diamond–Blackfan anemia (DBA, and Shwachman–Diamond syndrome (SBS, hallmarked by clinically-recognizable phenotypes (e.g., radial ray anomalies in FA and significantly increased risks for MDS and/or acute myeloid leukemia (AML in the setting of bone marrow failure. However, additional families with multiple cases of MDS or AML have long been reported in the medical literature with little known regarding potential hereditary etiologies. Over the last decade, genomic investigation of such families has revealed multiple genes conferring inherited risks for MDS and/or AML as the primary malignancy, including RUNX1, ANKRD26, DDX41, ETV6, GATA2, and SRP72. As these syndromes are increasingly appreciated in even apparently de novo presentations of MDS, it is important for hematologists/oncologists to become familiar with these newly-described syndromes. Herein, we provide a review of familial MDS syndromes and practical aspects of management in patients with predisposition syndromes.

  1. EVALUATION OF ANAEMIA USING RED CELL AND RETICULOCYTE PARAMETERS USING AUTOMATED HAEMATOLOGY ANALYSER

    Directory of Open Access Journals (Sweden)

    Vidyadhar Rao

    2016-06-01

    Full Text Available Use of current models of Automated Haematology Analysers help in calculating the haemoglobin contents of the mature Red cells, Reticulocytes and percentages of Microcytic and hypochromic Red cells. This has helped the clinician in reaching early diagnosis and management of Different haemopoietic disorders like Iron Deficiency Anaemia, Thalassaemia and anaemia of chronic diseases. AIM This study is conducted using an Automated Haematology Analyser to evaluate anaemia using the Red Cell and Reticulocyte parameters. Three types of anaemia were evaluated; iron deficiency anaemia, anaemia of long duration and anaemia associated with chronic disease and Iron deficiency. MATERIALS AND METHODS The blood samples were collected from 287 adult patients with anaemia differentiated depending upon their iron status, haemoglobinopathies and inflammatory activity. Iron deficiency anaemia (n=132, anaemia of long duration (ACD, (n=97 and anaemia associated with chronic disease with iron deficiency (ACD Combi, (n=58. Microcytic Red cells, hypochromic red cells percentage and levels of haemoglobin in reticulocytes and matured RBCs were calculated. The accuracy of the parameters was analysed using receiver operating characteristic analyser to differentiate between the types of anaemia. OBSERVATIONS AND RESULTS There was no difference in parameters between the iron deficiency group or anaemia associated with chronic disease and iron deficiency. The hypochromic red cells percentage was the best parameter in differentiating anaemia of chronic disease with or without absolute iron deficiency with a sensitivity of 72.7% and a specificity of 70.4%. CONCLUSIONS The parameters of red cells and reticulocytes were of reasonably good indicators in differentiating the absolute iron deficiency anaemia with chronic disease.

  2. Autoimmune Hemolytic Anemia as a Complication of Nivolumab Therapy

    Directory of Open Access Journals (Sweden)

    Amruth R. Palla

    2016-11-01

    Full Text Available Recently, immunotherapeutic drugs, including PD-1 inhibitors (nivolumab, pembrolizumab, PD-L1 inhibitors (atezolizumab, avelumab, and CTLA4 inhibitors (ipiliumumab, have emerged as important additions to the armamentarium against certain malignancies and have been incorporated into therapeutic protocols for first-, second-, or third-line agents for these metastatic cancers. Immune checkpoint inhibitor nivolumab is currently FDA approved for the treatment of patients with metastatic malignant melanoma [Redman et al.: BMC Med 2016;14: 20], metastatic non-small cell lung cancer [Guibert and Mazières: Expert Opin Biol Ther 2015;15: 1789–1797], metastatic renal cell cancer [Farolfi et al.: Expert Opin Drug Metab Toxicol 2016;12: 1089–1096], and relapsed or refractory classic Hodgkin’s lymphoma [Villasboas and Ansell: Expert Rev Anticancer Ther 2016;16: 5–12]. Given the current and increasing indications for these drugs, it is essential for all physicians to become well versed with their common adverse effects and to be observant for other less documented clinical conditions that could be unmasked with the use of such medications. A definite association between autoimmune hemolytic anemia and the immune checkpoint inhibitor nivolumab has not been clearly documented, although a few cases have been reported recently [Kong et al.: Melanoma Res 2016;26: 202–204; Schwab et al.: Case Rep Oncol 2016;9: 373–378; Tardy et al.: Hematol Oncol 2016, DOI: 10.1002/hon.2338]. We report a case of fatal autoimmune hemolytic anemia refractory to steroids in a patient treated with nivolumab for metastatic lung cancer, and reflect on the other reported cases of autoimmune hemolytic anemia after the use of nivolumab.

  3. Fatal hemolytic anemia associated with metformin: A case report

    Directory of Open Access Journals (Sweden)

    Packer Clifford D

    2008-09-01

    Full Text Available Abstract Introduction Metformin is a widely prescribed biguanide antidiabetic drug that has been implicated as a cause of hemolytic anemia in three previous case reports. We report a case of rapidly fatal hemolysis that was temporally associated with the initiation of metformin treatment for diabetes. Clinicians need to be aware of this rare but potentially serious side effect of metformin. Case presentation A 56-year-old Caucasian man with type 2 diabetes mellitus was started on metformin to improve glycemic control. Shortly afterwards, he developed progressive fatigue, exertional dyspnea, cranberry-colored urine and jaundice. Laboratory studies showed severe hemolysis, with a drop in hemoglobin from 14.7 to 6.6 g/dl over 4 days, markedly elevated lactate dehydrogenase, bilirubin and reticulocyte counts, and a low haptoglobin level. A peripheral blood smear showed no schistocytes, and a direct Coombs test was positive for anti-IgG and negative for anti-C3. Despite corticosteroid treatment and transfusion of packed red blood cells, the patient developed increasing dyspnea, hypotension, further decline in hemoglobin to 3.3 g/dl, and fatal cardiorespiratory arrest 12 hours after admission. Conclusion The serologic findings in this case suggest an autoimmune hemolytic anemia, caused either by a drug-induced autoantibody or a warm autoantibody. Based on the temporal association with metformin and the lack of other clear precipitating causes, we propose that metformin-induced hemolysis with a drug-induced autoantibody is a strong possibility. This mechanism differs from a previously described case with a possible antibody to the erythrocyte-drug complex. It has been shown, however, that hemolysis may occur via multiple mechanisms from the same drug. Clinicians should consider the possibility of metformin-associated immune hemolytic anemia in patients with otherwise unexplained hemolysis.

  4. Atypical hemolytic uremic syndrome triggered by varicella infection

    Directory of Open Access Journals (Sweden)

    Pauline Condom

    2017-01-01

    The current case describes an aHUS associated to varicella infection as demonstrated by the simultaneous occurrence of the viral infection and aHUS manifestations. Apart from typical Hemolytic Uremic Syndrome which is triggered by bacteria mostly Shiga toxin producing Echerichia coli and Streptococcus pneumoniae or Shigella, aHUS may be linked to viral infections such as HIV, EBV and enteroviruses, but very rarely by varicella. This case highlights a possible even rare complication of varicella infection a very common childhood disease. This complication could be avoided by to anti-VZV vaccination.

  5. Late-onset Leber hereditary optic neuropathy.

    Science.gov (United States)

    Pfeiffer, Margaret L; Hashemi, Nafiseh; Foroozan, Rod; Lee, Andrew G

    2013-01-01

    While Leber hereditary optic neuropathy typically causes bilateral visual loss in the second through fourth decades, we highlight visual loss from Leber hereditary optic neuropathy in older patients to characterize the clinical features of this cohort. Retrospective case series. Patients seen between January 2003 and July 2012 at Baylor College of Medicine and between April 2010 and July 2012 at The Methodist Hospital in Houston, Texas. Patients with visual loss from genetically confirmed Leber hereditary optic neuropathy were identified via retrospective chart review. Clinical courses of patients. Five patients with visual loss from genetically confirmed Leber hereditary optic neuropathy were greater than 60 years of age at the time of visual loss (range 62-70 years, mean 66.4 ± 3.0). This series reinforces the importance of including Leber hereditary optic neuropathy in the differential diagnosis of patients of any age with optic neuropathy. © 2013 The Authors. Clinical and Experimental Ophthalmology © 2013 Royal Australian and New Zealand College of Ophthalmologists.

  6. Is the use of recombinant human erythropoietin in anaemia of ...

    African Journals Online (AJOL)

    In a double-blind placebo-eontrolled study we showed a 3-fold decrease in blood transfusions (BTFs) given to preterm infants with anaemia of prematurity who received recombinant erythropoietin. However, only 50% of placebo recipients required a BTF. Data from the placebo group indicated that either mean daily weight ...

  7. Haemato-biochemical basis of anaemia in Agogo, Ashanti Region ...

    African Journals Online (AJOL)

    This cross sectional study was conducted to evaluate the underlying causes of anaemia among 200 adult patients (18-60 years) without any established chronic disease from September 2011 to February 2012 at the outpatients department of the Agogo Presbyterian Hospital. Participant selection was based on the WHO ...

  8. Evaluation of some predisposing factors to malaria related anaemia ...

    African Journals Online (AJOL)

    First aid treatment offered by caregivers included, paracetamol only, paracetamol and chloroquine at sub-optimal doses in 39.2% of cases. Moderate- severe anaemia was significantly associated with time of presentation in hospital (χ2 = 4.97, p<0.05). The need for transfusion was also significantly more in those presented ...

  9. Pyridoxine responsive megaloblastic anaemia in pregnancy: a case ...

    African Journals Online (AJOL)

    Similarly Pyridoxine deficiency is also rare but if it does occur, it is often in association with deficiency in several B- Complex vitamins. We report a case of megaloblastic anaemia in pregnancy which was responsive to pyridoxine with a view to increasing the awareness of pyridoxine deficiency complicating megalobastic ...

  10. Haemolytic anaemia as a complication to intravenous immunoglobulin infusion

    DEFF Research Database (Denmark)

    Markvardsen, Lars Høj; Harbo, Thomas; Christiansen, Ingelise

    performed before and two weeks after infusion of IVIg. Following treatment blood haemoglobin declined from 8.6±0.8 to 8.1±1.3mmol/l, p... naive patients are susceptible to develop haemolysis. Haemolytic anaemia is a severe side effect that seems to be more frequent after immunoglobulin infusions than previously recognized....

  11. Haemolytic anaemia after ingestion of Neem (Azadirachta indica) tea

    Science.gov (United States)

    Page, Cristy; Hawes, Emily M

    2013-01-01

    The authors report a clinically relevant and possible cause of haemolytic anaemia from ingestion of a Mexican tea from the Neem tree, also known as Azadirachta indica, in a 35-year-old Hispanic man who was found to have glucose-6-phosphate dehydrogenase deficiency. PMID:24136910

  12. Malaria Parasitemia and Anaemia among Pregnant Women in ...

    African Journals Online (AJOL)

    Michael Horsfall

    risk of malaria during pregnancy causes low birth weight and infant mortality during the first of life by inducing intra-uterine retardation, prematurity and infant anaemia (Aribodoret al 2007). The disease is currently endemic in 91 countries with small pockets of transmission in a further eight. P. Falciparium is the predominant ...

  13. Prevalence and predictors of anaemia among patients presenting ...

    African Journals Online (AJOL)

    Dr David Zadock Munisi

    Anaemia in CKD is associated with memory loss, disturbances in sleep, CKD progression,. CVD co-morbidities and higher ... Bedside isotope-dilution mass spectrometry (IDMS) traceable Schwartz GFR Calculator for Children was used to stage patients. ..... Tanzania: a 3-year prospective study. Journal of Hypertension 31: ...

  14. Prevalence and risk factors of nutritional anaemia among female ...

    African Journals Online (AJOL)

    Statistical significance was considered at p< 0.05. The overall prevalence of anaemia was 46%. It was twice as high in the urban school (61%) compared to the rural school (31%). There was a high intake of plant . based diets; majority of the school children with excess intake of fibre, inadequate intake of iron, protein, folate, ...

  15. Effectiveness of routine antihelminthic treatment on anaemia in ...

    African Journals Online (AJOL)

    Objective: The aim of this study was to estimate the effect of an antihelminthic drug, given at booking and at term to antenatal care visits, on the prevalence of anaemia at term and 4 months post-partum in Rufiji district, Tanzania, the area with high prevalence of intestinal parasites. Methods: A cluster randomised controlled ...

  16. Haemolytic anaemia after ingestion of Neem (Azadirachta indica) tea.

    Science.gov (United States)

    Page, Cristy; Hawes, Emily M

    2013-10-17

    The authors report a clinically relevant and possible cause of haemolytic anaemia from ingestion of a Mexican tea from the Neem tree, also known as Azadirachta indica, in a 35-year-old Hispanic man who was found to have glucose-6-phosphate dehydrogenase deficiency.

  17. Beta thalassaemia traits in Nigerian patients with sickle cell anaemia ...

    African Journals Online (AJOL)

    Haematological values were determined in 246 sickle cell anaemia (SCA) patients in three centres in Benin City, Nigeria, as well as 84 control subjects with haemoglobin A (HbAA) confirmed by haemoglobin electrophoresis at pH 8.6. Automated Coulter counter was used to determine the complete blood counts while the ...

  18. Prevalence of Anaemia in Pregnant Women Attending the Antenatal ...

    African Journals Online (AJOL)

    Prevalence of Anaemia in Pregnant Women Attending the Antenatal Clinic in a Nigerian University Teaching Hospital. MA Lamina, TO Sorunmu. Abstract. Two thousand, six hundred and fifty pregnant Nigerian women attending the antenatal booking clinic of the Olabisi Onabanjo University Teaching Hospital (OOUTH), ...

  19. Post-transfusion viral hepatitis in sickle Cell Anaemia: Retrospective ...

    African Journals Online (AJOL)

    Several complications of sickle cell anaemia (SCA) are well known including hepatobiliary dysfunction. We here present a study 151 randomly selected SCA patients to highlight the contributory role of blood transfusion to the development of viral hepatitis in them. Twenty (13.2%) had not received blood transfusion and no ...

  20. Coinheritance of Β-Thalassemia and Sickle Cell Anaemia in ...

    African Journals Online (AJOL)

    BACKGROUND: Genes for haemoglobin S are found in high frequencies in Nigeria. However, there is little information on beta thalassemia in sickle cell anaemia in this population. The clinical presentation of HbS- β thalassemia is enormously variable, ranging from an asymptomatic state to a severe disorder similar to ...

  1. Cardio–Pulmonary Response Of Patients With Sickle Cell Anaemia ...

    African Journals Online (AJOL)

    The purpose of this study was to compare the response of sickle cell anaemia patients with their age-matched counterparts to exercise test. This was to see whether patients with sickle cell disease could be given exercise therapy without any risk of adverse cardio-respiratory response during the course of physical ...

  2. Occurrence of haemolysin antibodies among sickle cell anaemia ...

    African Journals Online (AJOL)

    The role of alpha () and beta () haemolysins in blood transfusion has been well documented. However, the occurrence of haemolysins and its attending problems in sickle cell anaemia (SCA) patients has limited appearance in the literatures especially in black Africa. This study was therefore designed to investigate the ...

  3. Cardiac Arrhythmias in Children with Sickle Cell Anaemia | Bode ...

    African Journals Online (AJOL)

    Background : Sickle cell anaemia (SCA) is an important cause of morbidity and mortality in tropical Africa. Recurrent episodes of vaso-occlusive crisis often lead to organ ischaemia and/or infarction. Arrythmias are common and reliable manifestations of myocardial ischaemia and often follow infarction. The prevalence and ...

  4. A study of the aetiology of anaemia in hospitalized newborns ...

    African Journals Online (AJOL)

    Background: Anaemia contributes significantly to neonatal morbidity and mortality. This study describes the aetiology of anemia in ill babies in order to highlight the underlying conditions, proffer preventive measures and sensitize Physicians to improve on the management of anemia in babies. Methods: This was a ...

  5. Prevalence of iron deficiency and megaloblastic Anaemia at ...

    African Journals Online (AJOL)

    The age, parity social class and gestational age at booking were obtained and analyzed. Results: Among the 461 women studied, 239 were anaemic thus making the prevalence of anaemia at booking to be 51.8%. Most, 67.4% were mildly anaemic, 30.5% were moderately anaemic while 2.1% were severely anaemic.

  6. Role of Cytokines in Trypanosoma brucei -Induced Anaemia: A ...

    African Journals Online (AJOL)

    A number of studies have implicated inflammatory cytokines, but these data are limited and inconsistent. In this article, we reviewed the published literature on ... The mechanism of anaemia is multifactorial and therefore requires further, more elaborate research. Data from human subjects would also shed more light.

  7. Hepatitis B Surface Antigenaemia in Sickle Cell Anaemia in Kano ...

    African Journals Online (AJOL)

    The seroprevalence of Hepatitis B surface antigen (HBsAg) in 96 Sickle cell anaemia (SCA) patients (HbSS) was determined at Aminu Kano Teaching Hospital, Kano between May and November, 2005 using standard method for haemoglobin electrophoresis and HBsAgTM latex agglutination test kit. The seroprevalence of ...

  8. differential effects of chronic iron deficiency anaemia on junctional ...

    African Journals Online (AJOL)

    2016-12-12

    Dec 12, 2016 ... ABSTRACT. Iron deficiency anaemia causes adverse pregnancy outcome. Studies reveal its generalized effects on histomorphometry of the placenta, without details on specific zones nor effect of gestational age. These data are important for planning intervention. This study was, therefore, designed to ...

  9. Preoperative pharmacological correction of severe anaemia due to ...

    African Journals Online (AJOL)

    Objective: To study the effect of total dose iron-dextran infusion and folic acid with or without a progestogen in the preoperative correction of severe anaemia due to fibroid induced menorrhagia. Materials and Methods: A prospective interventional study of severely anaemic patients with uterine fibroids who refused ...

  10. Prevalence of anaemia in paediatric patients with HIV infection in ...

    African Journals Online (AJOL)

    Background: HIV infection affects virtually all systems of the body including the haematological system. Objective: To determine the prevalence of anaemia in HIV infected children and compare with apparently healthy HIV negative age-sex matched controls. Design: Case control hospitalbased study. Methods: A total of 60 ...

  11. Estimating the burden of disease attributable to deficiency anaemia ...

    African Journals Online (AJOL)

    Objectives. To estimate the extent of iron deficiency anaemia (IDA) among children aged 0 - 4 years and pregnant women aged 15 - 49 years, and the burden of disease attributed to IDA in South Africa in 2000. Design. The comparative risk assessment (CRA) methodology of the World Health Organization (WHO) was ...

  12. Sports anaemia and anthropometric evaluation of footballers at ...

    African Journals Online (AJOL)

    Introduction: Sports anaemia is a physiological activity that occurs amongst footballers and may be due to poor diet, over-training, as well as an increase in plasma volume in endurance training activities. High plasma volume leads to changes in haematological parameters that may impact on endurance of footballers.

  13. Anaemia – a pale ale? | Muntingh | South African Family Practice

    African Journals Online (AJOL)

    Despite some modest improvements described recently, anaemia remains a significant global public health concern affecting both developed and developing countries. It affects a quarter of the global population, including 293 million (47%) children who are younger than five years of age. A prevalence of 42% and 30% has ...

  14. The effects of iron deficiency and anaemia on primary school ...

    African Journals Online (AJOL)

    Iron deficiency (ID) is the most common nutritional disorder in the developing world and, as a result, a large number of children under the age of 5 years do not reach their developmental potential.[1,2]. ID and ID anaemia (IDA) are widespread health problems among children. Approximately 40% of children are anaemic ...

  15. Left ventricular systolic function in sickle cell anaemia: An ...

    African Journals Online (AJOL)

    Background: Reliable diagnostic measures for the evaluation of left ventricular systolic performance in the setting of altered myocardial loading characteristics in sickle cell anaemia remains unresolved. Objective: The study was designed to assess left ventricular systolic function in adult sickle cell patients using ...

  16. Ameliorative effects of Cnidoscolus aconitifolius on anaemia and ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-06-03

    Jun 3, 2008 ... The least effects were seen in group D rats that con- sumed commercial feed. DISCUSSION. Anaemia is one of the common complications of protein- energy malnutrition (Borelli et al., 2007). Other symptoms of PEM include oedema, diarrhoea, weight loss, alopecia, retinopathy and opportunistic infections.

  17. Anaemia in pregnancy: a survey of pregnant women in Abeokuta ...

    African Journals Online (AJOL)

    2005-12-04

    Dec 4, 2005 ... 1 - Department of Biological Sciences, University of Agriculture, Abeokuta, Nigeria. 2 - Department of Obstetrics ... African Health Sciences 2005; 5(4): 295 - 299. Introduction ... to meet the required level for these substances either as a and foetus ' The management and Contrd 0f anaemia m result of dietary ...

  18. Sickle cell anaemia: Awareness Among Health Professionals and ...

    African Journals Online (AJOL)

    ... burden is enormous to the patient, family and community. One potential weapon in its prevention is health information and awareness among the populace. Objetive: The study is to detrmine the awareness of sickle cell anaemia among health professionals and medical students at the Lagos University Teaching Hospital ...

  19. Socio-Demographic and Maternal Factors in Anaemia in Pregnancy ...

    African Journals Online (AJOL)

    Erah

    pregnant women studied, 51 (17%) [95% Confidence Interval (CI)=12.9%-21.7%] were anaemic. Specifically, 12.7% and 4.3% of the women had mild and moderate anaemia respectively. Blood film of 74.5%, 15.7% and 11.8% anaemic women showed normochromic normocytic, haemolytic and microcytic hypochromic ...

  20. Letter to the Editor Correspondence: Iron deficiency anaemia among ...

    African Journals Online (AJOL)

    Letter to the Editor. Correspondence: Iron deficiency anaemia among apparently healthy pre-school children in Lagos, Nigeria. Anirban Mandal1, Puneet Kaur Sahi2. 1. Department of Pediatrics, Sitaram Bhartia Institute of Science and Research, New Delhi, India. 2. Department of Pediatrics, Kalawati Saran Children's ...

  1. Anaemia prevention for reduction of mortality in mothers and children

    NARCIS (Netherlands)

    Brabin, Bernard; Prinsen-Geerligs, Paul; Verhoeff, Francine; Kazembe, Peter

    2003-01-01

    The relationship of anaemia as a risk factor for child and maternal mortality is described. Maternal case fatality rates, mainly from hospital studies vary from < 1% to > 50%. These large differences in risk were related primarily to differences in available obstetric care for women living in areas

  2. Impact of dietary iron intake on anaemia in Tanzanian schoolchildren

    African Journals Online (AJOL)

    Enrique

    3. ARTICLE. Impact of dietary iron intake on anaemia in Tanzanian schoolchildren. Department of Food Science and Nutrition, Tanzania Food and Nutrition Centre. Simon Tatala, MD. Godwin Ndossi, PhD. Department of Public Health and Nutrition, Harvard University, USA. Ulf Svanberg, PhD. Department of Food Science, ...

  3. Dietary determination of stunting and anaemia among pre ...

    African Journals Online (AJOL)

    Morocco is undergoing nutrition transition with more than one third of women and children presenting anaemia while about 20% of children under the age of 15 years have stunted growth. Meanwhile the prevalence of obesity is increasing yearly by 0.5 to 1 point among women. Many nutritional strategies have been ...

  4. Pathophysiological mechanisms of severe anaemia in Malawian children

    NARCIS (Netherlands)

    Boele van Hensbroek, Michaël; Calis, Job C. J.; Phiri, Kamija S.; Vet, Raymond; Munthali, Francis; Kraaijenhagen, Rob; van den Berg, Henk; Faragher, Brian; Bates, Imelda; Molyneux, Malcolm E.

    2010-01-01

    Severe anaemia is a major cause of morbidity and mortality in African children. The aetiology is multi-factorial, but interventions have often targeted only one or a few causal factors, with limited success. We assessed the contribution of different pathophysiological mechanisms (red cell production

  5. Differential effects of chronic iron deficiency anaemia on junctional ...

    African Journals Online (AJOL)

    Differential effects of chronic iron deficiency anaemia on junctional and labyrinthine zones of placenta in Sprague dawely rat. ... of the labyrinth may be designed to maintain placental diffusion capacity while increased thickness of the junctional zone constitutes a compensatory physical and nutritional adaptation to hypoxia.

  6. Anaemia in pregnant adolescent girls with malaria and practicing pica.

    Science.gov (United States)

    Intiful, Freda Dzifa; Wiredu, Edwin Kwame; Asare, George Awuku; Asante, Matilda; Adjei, David Nana

    2016-01-01

    Pregnancy during the adolescent period is challenging mainly because of the nutritional demands of both the adolescent and pregnancy period. The risk for anaemia increases especially in developing countries such as Ghana where malaria is endemic and the practice of pica is common. In this study, we sought to determine the prevalence of anaemia, pica practice and malaria infection among pregnant adolescent girls and assess the extent to which these factors are associated. Two hundred and sixty five (265) pregnant adolescent girls were recruited from three hospitals in Accra. Haemoglobin levels, malaria infection and the practice of pica were assessed. Pearson's Chi squared tests were used to determine associations and logistic regression analysis was used to determine the odds of being anaemic. Significance was set at p≤0.05. Anaemia prevalence was 76% with severity ranging from mild (47.8%) to severe (0.8%). About 27.5% were moderately anaemic. Pica was practiced in only 9.1% of the girls. Malaria infection was prevalent in 17.7% of the girls. The logistic regression analysis indicated that pregnant girls with malaria infection were 3.56 times more likely to be anaemic when compared to those without malaria. Also, those who practiced pica were 1.23 times more likely to be anaemic when compared to those who did not practice pica. Anaemia is very prevalent in pregnant adolescent girls and is a public health problem. Drastic measures should be taken to reduce the high prevalence.

  7. Pathophysiological Mechanisms of Severe Anaemia in Malawian Children

    NARCIS (Netherlands)

    van Hensbroek, M.B.; Calis, J.C.J.; Phiri, K.S.; de Vet, R.; Munthali, F.; Kraaijenhagen, R.; van den Berg, H.; Faragher, B.; Bates, I.; Molyneux, M.E.

    2010-01-01

    Background: Severe anaemia is a major cause of morbidity and mortality in African children. The aetiology is multi-factorial, but interventions have often targeted only one or a few causal factors, with limited success. Methods and Findings: We assessed the contribution of different

  8. Prevalence of anaemia and parasitic infections among underfive ...

    African Journals Online (AJOL)

    complications include impaired growth, cognitive abilities in children and reduced work capacity in adults. (Grantham-McGregor and Ani, 2001). Anaemia in. Tanzania is estimated to be present in 33% of the population (UNICEF, 1999). Parasitic infection has been identified as one of the main cause of poor nutritional status.

  9. Anaemia and nutritional status of adolescent girls in Babile District ...

    African Journals Online (AJOL)

    Introduction: Nutritional status during adolescence plays an important role in the human lifecycle that influences growth and development and during this period nutrient needs are the greatest. The objective of this study is to assess anaemia and nutritional status of adolescent girls in the Babile district, Eastern Ethiopia.

  10. Anaemia among clinically well under-fives attending a community ...

    African Journals Online (AJOL)

    Caregivers participated in a brief interview where demographic, health and nutritional information was collected. A blood sample was collected from each child, and haemoglobin levels were assessed with a point-of-care haemoglobin testing system. Anaemia was defined as having a haemoglobin value <2 standard ...

  11. Anaemia in pregnant adolescent girls with malaria and practicing pica

    African Journals Online (AJOL)

    Introduction: pregnancy during the adolescent period is challenging mainly because of the nutritional demands of both the adolescent and pregnancy period. The risk for anaemia increases especially in developing countries such as Ghana where malaria is endemic and the practice of pica is common. In this study, we ...

  12. Prevalence of anaemia in pregnancy at Greytown, South Africa ...

    African Journals Online (AJOL)

    Objectives: To describe antenatal booking visits, haemoglobin levels and to estimate the prevalence of Anaemia in pregnancy based on the criteria set by South Africa (National) and World Health organization and to identify the risk factors. Study-Design, Setting and Subjects: A retrospective cross-sectional descriptive study ...

  13. Malaria Parasitemia and Anaemia among Pregnant Women in ...

    African Journals Online (AJOL)

    A study on the prevalence of malaria parasitaemia and anaemia among pregnant women attending Federal Medical Centre (FMC), Umuahia and Nwachinemere Maternity and Child-Care (NMCCD) Ihie in Umuahia metropolis in Abia State Nigeria was carried out between April and October 2010. Blood samples were ...

  14. Malnutrition and iron deficiency anaemia in lactating women in ...

    African Journals Online (AJOL)

    Objective: To determine the status of iron deficiency anaemia (IDA) and malnutrition in lactating women. Design: A cross-sectional study. Setting: Six urban slum communities in Teklehaimanot district, Addis Ababa. Subjects: One thousand and seventeen lactating women were enrolled and assessed for their haemoglobin ...

  15. Anaemia in Patients with Diabetes Mellitus attending regular ...

    African Journals Online (AJOL)

    To investigate the occurrence of anaemia in diabetic patients that came for routine clinic visit in University of Maiduguri Teaching Hospital, Borno State. From August 2003 to February 2004, 53 patients that came for routine diabetic clinic visit had their fasting blood glucose, 2 hours post-prandial and haematocrit estimated ...

  16. Prevalence of vitamin a, zinc, iodine deficiency and anaemia among ...

    African Journals Online (AJOL)

    Children are the most nutritionally vulnerable group of society as children are dependants and they are also at a critical stage of the growing process. They need adequate vitamin A, zinc, iron and iodine for their development and school performance. Most often iron deficiency causes anaemia with resultant fatigue and low ...

  17. Prevalence of malaria and anaemia in pregnancy in Ibadan, South ...

    African Journals Online (AJOL)

    The study investigated the episode of malaria infection and anaemia in pregnancy of 226 women. The overall prevalence of malaria infection among pregnant women was 23.08%, while only 7.1% of non-pregnant women were malaria positive. The mean parasite density was significantly higher in the primigravidae than in ...

  18. Urinary abnormalities in children with sickle cell anaemia | Ugwu ...

    African Journals Online (AJOL)

    Background: Sickle cell anaemia (SCA) is a health problem worldwide. Almost all the organs of the body are affected by the combined effect of chronic hypoxia, repeated infarction and recurrent infections. Renal function may be progressively impaired in them as a result of sickling in the renal medulla. Microscopic ...

  19. hospital admission of patients with sickle cell anaemia pattern and ...

    African Journals Online (AJOL)

    Conclusions: Intensive counseling of patients, with the involvement of Social workers and health visitors, is strongly advocated. There is ... distort red cells. Patients who are homozygous for. HbS are said to have sickle cell anaemia, About 80. 95% of their haemoglogin is HbS, the remainder being Hb F and HB AZ. 2 Cells ...

  20. Prognosis in canine idiopathic immune-mediated haemolytic anaemia

    NARCIS (Netherlands)

    Piek, Christine J.

    About 50% of dogs with idiopathic immune-mediated haemolytic anaemia (IMHA) dogs die in the first 2 weeks after diagnosis. It was shown that mortality risk is associated with the presence of hypercoagulability, inflammatory response, and liver and kidney failure. Evidence suggests that tissue

  1. Sendentarization and the prevalence of malaria and anaemia ...

    African Journals Online (AJOL)

    These findings suggest that changes from nomadic to sedentary lifestyles may have negative impacts on the health of nomadic Fulani pastoralists. Keywords: prevalence, malaria, anaemia, sedentarization, life style changes, Fulani pastoralists, south-western Nigeria. Nigerian Journal of Parasitology Vol. 29 (2) 2008: pp.

  2. The prevalence of anaemia in rural primary school children in ...

    African Journals Online (AJOL)

    The prevalence of anaemia in rural primary school children in Ekwusigo Local Government Area, Anambra State, Nigeria. ... would be of benefit in improving the haemoglobin concentration of these rural school children. Keywords: Haemoglobin concentration, hookworm infection, iron deficiency, maternal education ...

  3. Risk Factors of Anaemia Among Rural School Children in Kenitra ...

    African Journals Online (AJOL)

    Objective: To determine the prevalence of anaemia and factors associated with iron deficiency among school children in rural Kenitra, Morocco. Methods: 295 students between 6 and 16 years old composed the study group. The level of haemoglobin was measured in a group of 295 school children. The iron status was ...

  4. Prevalence of anaemia in pregnancy in the Uthungulu health district ...

    African Journals Online (AJOL)

    Screen- ing for anaemia, syphilis and rhesus factors were ... and gestational age. The age and par- ity were obtained from the mother and the gestational age was estimated by an examination of the fundal height or from the women's ... Table I: Age, gestational age and parity distribution of the sample population. Variables.

  5. Investigation of manganese homeostasis in dogs with anaemia and ...

    African Journals Online (AJOL)

    Ibrahim Eldaghayes

    2017-11-21

    Nov 21, 2017 ... Adam George Gow. Hospital for Small Animals, The Royal (Dick) School of Veterinary Studies, The University of Edinburgh, UK ... Little is known about how anaemia influences manganese metabolism in veterinary patients and how ...... Veterinary Internal Medicine Forum, pp: 1415. Zentek, J. 2016.

  6. Socio-Demographic and Maternal Factors in Anaemia in Pregnancy ...

    African Journals Online (AJOL)

    Erah

    classified as anaemic in the developing countries including Nigeria. Therefore a pragmatic classification has been used in these settings where the cut off is adjusted downwards to 10g/dl.11. The aetiological factors for anaemia in pregnancy vary geographically. The reported principal causes in sub-Saharan Africa include ...

  7. Anaemia and its Response to Treatment with Recombinant Human ...

    African Journals Online (AJOL)

    BACKGROUND: The introduction of erythropoietin has transformed the management of anaemia in CKD, with considerable benefits which includes enhanced quality of life, increased exercise capacity and improved cardiac function. There is paucity of data on the beneficial effects of this treatment from this environment.

  8. Effect of aqueous extract of Hibiscus sabdariffa Calyces on anaemia ...

    African Journals Online (AJOL)

    The effect of aqueous extract of Hibiscus sabdariffa Calyces on anaemia-induced and normal wistar albino rats were investigated using standard protocols. The haematological parameters which include haemoglobin concentration, packed cell volume, erythrocyte sedimentation rate, Red Blood Cell count and White Blood ...

  9. Anaemia and blood transfusion in the ICU | Wilson | Southern ...

    African Journals Online (AJOL)

    Southern African Journal of Critical Care. Journal Home · ABOUT · Advanced Search · Current Issue · Archives · Journal Home > Vol 20, No 1 (2004) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register. Anaemia and blood transfusion in the ICU. GS Wilson. Abstract.

  10. A monoclonal blocking ELISA to detect chicken anaemia virus ...

    African Journals Online (AJOL)

    To provide a rapid, easy and economical method for detecting antibodies to chicken anaemia virus (CAV) especially in large numbers of chicken sera, we established a monoclonal blocking enzyme-linked immunosorbent assay (MBE). A monoclonal antibody (MAb), 2A9, directed against the 52 kDa protein of the ...

  11. Genetics Home Reference: distal hereditary motor neuropathy, type V

    Science.gov (United States)

    ... neuropathy, type V Distal hereditary motor neuropathy, type V Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells ...

  12. The Korean Hereditary Breast Cancer Study: Review and Future Perspectives

    National Research Council Canada - National Science Library

    Kang, Eunyoung; Kim, Sung-Won

    2013-01-01

    .... In 2007, the Korean Hereditary Breast Cancer (KOHBRA) Study was established to obtain evidence for the accurate risk assessment and management of hereditary breast and ovarian cancer (HBOC) in Korea...

  13. [Quality control of DNA testing in hereditary diseases

    NARCIS (Netherlands)

    Ouweland, A.M.W. van den; Scheffer, H.

    2001-01-01

    The laboratories performing diagnostic studies regarding hereditary diseases and the specialists providing hereditary counselling are housed in clinical genetic centres. The laboratories are subject to the Special Medical Performances Act and have had licenses from the Ministry. The DNA diagnostic

  14. Neonatal management and outcome in alloimmune hemolytic disease.

    Science.gov (United States)

    Ree, Isabelle M C; Smits-Wintjens, Vivianne E H J; van der Bom, Johanna G; van Klink, Jeanine M M; Oepkes, Dick; Lopriore, Enrico

    2017-07-01

    Hemolytic disease of the fetus and newborn (HDFN) occurs when fetal and neonatal erythroid cells are destroyed by maternal erythrocyte alloantibodies, it leads to anemia and hydrops in the fetus, and hyperbilirubinemia and kernicterus in the newborn. Postnatal care consists of intensive phototherapy and exchange transfusions to treat severe hyperbilirubinemia and top-up transfusions to treat early and late anemia. Other postnatal complications have been reported such as thrombocytopenia, iron overload and cholestasis requiring specific management. Areas covered: This review focusses on the current neonatal management and outcome of hemolytic disease and discusses postnatal treatment options as well as literature on long-term neurodevelopmental outcome. Expert commentary: Despite major advances in neonatal management, multiple issues have to be addressed to optimize postnatal management and completely eradicate kernicterus. Except for strict adherence to guidelines, improvement could be achieved by clarifying the epidemiology and pathophysiology of HDFN. Several pharmacotherapeutic agents should be further researched as alternative treatment options in hyperbilirubinemia, including immunoglobulins, albumin, phenobarbital, metalloporphyrins, zinc, clofibrate and prebiotics. Larger trials are warranted to evaluate EPO, folate and vitamin E in neonates. Long-term follow-up studies are needed in HDFN, especially on thrombocytopenia, iron overload and cholestasis.

  15. Cobalt-doped nanohydroxyapatite: synthesis, characterization, antimicrobial and hemolytic studies

    Energy Technology Data Exchange (ETDEWEB)

    Tank, Kashmira P., E-mail: kashmira_physics@yahoo.co.in [Saurashtra University, Crystal Growth Laboratory, Physics Department (India); Chudasama, Kiran S.; Thaker, Vrinda S. [Saurashtra University, Bioscience Department (India); Joshi, Mihir J., E-mail: mshilp24@rediffmail.com [Saurashtra University, Crystal Growth Laboratory, Physics Department (India)

    2013-05-15

    Hydroxyapatite (Ca{sub 10}(PO{sub 4}){sub 6}(OH){sub 2}; HAP) is a major mineral component of the calcified tissues, and it has various applications in medicine and dentistry. In the present investigation, cobalt-doped hydroxyapatite (Co-HAP) nanoparticles were synthesized by surfactant-mediated approach and characterized by different techniques. The EDAX was carried out to estimate the amount of doping in Co-HAP. The transmission electron microscopy result suggested the transformation of morphology from needle shaped to spherical type on increasing the doping concentration. The powder XRD study indicated the formation of a new phase of brushite for higher concentration of cobalt. The average particle size and strain were calculated using Williamson-Hall analysis. The average particle size was found to be 30-60 nm. The FTIR study confirmed the presence of various functional groups in the samples. The antimicrobial activity was evaluated against four organisms Pseudomonas aeruginosa and Shigella flexneri as Gram negative as well as Micrococcus luteus and Staphylococcus aureus as Gram positive. The hemolytic test result suggested that all samples were non-hemolytic. The photoluminescence study was carried out to identify its possible applicability as a fluorescent probe.

  16. Hemolytic Uremic Syndrome: New Developments in Pathogenesis and Treatment

    Directory of Open Access Journals (Sweden)

    Olivia Boyer

    2011-01-01

    Full Text Available Hemolytic uremic syndrome is defined by the characteristic triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. In children, most cases of HUS are caused by Shiga-toxin-producing bacteria, especially Escherichia coli O157:H7. Common vehicles of transmission include ground beef, unpasteurized milk, and municipal or swimming water. Shiga-toxin-associated HUS is a main cause of acute renal failure in young children. Management remains supportive as there is at present no specific therapy to ameliorate the prognosis. Immediate outcome is most often favourable but long-term renal sequelae are frequent due to nephron loss. Atypical HUS represents 5% of cases. In the past 15 years, mutations in complement regulators of the alternative pathway have been identified in almost 60% of cases, leading to excessive complement activation. The disease has a relapsing course and more than half of the patients either die or progress to end-stage renal failure. Recurrence after renal transplantation is frequent.

  17. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

    Science.gov (United States)

    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  18. Hemolytic uremic syndrome in Argentina: An attack scenario

    Directory of Open Access Journals (Sweden)

    Alcides Troncoso

    2013-08-01

    Full Text Available The recent Escherichia coli epidemic in Germany gave a lesson at an international level. There is no time to solve food security problems when an epidemic is on the way. The epidemic in Germany exposed the fissures in the control systems of the Federal Risk Evaluation Institute of this country, as well as showing the incompetency of health authorities, who had great difficulty in resolving the situation. To summarize, the possibility of prevention was confused with the utopian idea of non-occurrence. It was not less important the public’s recognition and the “awakening” of health ministers in the European Union as regards the proven fact that pathogenic and even lethal microorganisms may be present in the food we eat. Argentina has the highest incidence of hemolytic uremic syndrome in the world, and the next epidemic is likely not to occur in Germany, but in any other country, such as Argentina. In order to avoid complicity, we do not wish to remain silent about the situation in Argentina. Therefore, this is the writer’s motive for writing this article, which describes the scientific advances and the ethical pitfalls related to a disease transmitted by food, particularly hemolytic uremic syndrome, in Argentina.

  19. Advanced Prostate Cancer Presenting as Hemolytic Uremic Syndrome

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    R. Ramos

    2013-01-01

    Full Text Available Introduction. Hemolytic uremic syndrome (HUS is characterized by endothelial dysfunction, consumption thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure. HUS generally has a dismal prognosis, except when associated with gastroenteritis caused by verotoxin-producing bacteria. Cancer associated HUS is uncommon, and there are only scarce reports on prostate cancer presenting with HUS. Case Presentation. A 72-year-old man presented to the emergency department with oliguria, hematuria, and hematemesis. Clinical evaluation revealed acute renal failure, hemolysis, normal blood-clotting studies, and prostate-specific antigen value of 1000 ng/mL. The patient was started on hemodialysis, ultrafiltration with plasma exchange, and androgen blockade with bicalutamide and completely recovered from HUS. The authors review the 14 published cases on this association. Conclusion. The association of HUS and prostate cancer occurs more frequently in patients with high-grade, clinically advanced prostate cancer. When readily recognized and appropriately treated, HUS does not seem to worsen prognosis in prostate cancer patients.

  20. Hemolytic activity of venom from crown-of-thorns starfish Acanthaster planci spines.

    Science.gov (United States)

    Lee, Chi-Chiu; Tsai, Wann-Sheng; Hsieh, Hernyi Justin; Hwang, Deng-Fwu

    2013-09-24

    The crown-of-thorns starfish Acanthaster planci is a venomous species from Taiwan whose venom provokes strong hemolytic activity. To understand the hemolytic properties of A. planci venom, samples were collected from A. planci spines in the Penghu Islands, dialyzed with distilled water, and lyophilized into A. planci spine venom (ASV) powder. Both crude venom and ASV cause 50% hemolysis at a concentration of 20 μg/mL. The highest hemolytic activity of ASV was measured at pH 7.0-7.4; ASV-dependent hemolysis was sharply reduced when the pH was lower than 3 or greater than 8. There was almost no hemolytic activity when the Cu2+ concentration was increased to 10 mM. Furthermore, incubation at 100°C for 30 to 60 minutes sharply decreased the hemolytic activity of ASV. After treatment with the protease α-chymotrypsin, the glycoside hydrolase cellulase, and the membrane component cholesterin, the hemolytic activity of ASV was significantly inhibited. The results of this study provide fundamental information about A. planci spine venom. The hemolytic activity was affected by pH, temperature, metal ions, EDTA, cholesterin, proteases, and glycoside hydrolases. ASV hemolysis was inhibited by Cu2+, cholesterin, α-chymotrypsin, and cellulose, factors that might prevent the hemolytic activity of venom and provide the medical treatment for sting.

  1. Positive predictive value of diagnosis coding for hemolytic anemias in the Danish National Patient Register

    DEFF Research Database (Denmark)

    Hansen, Dennis Lund; Overgaard, Ulrik Malthe; Pedersen, Lars

    2016-01-01

    . Patients with mechanical reason for hemolysis such as an artificial heart valve, and patients with vitamin-B12 or folic acid deficiency were excluded. RESULTS: We identified 412 eligible patients: 249 with a congenital hemolytic anemia diagnosis and 163 with acquired hemolytic anemia diagnosis. In all...

  2. Prenatal treatment of severe fetal hemolytic disease due to anti-M alloimmunization by serial intrauterine transfusions

    Directory of Open Access Journals (Sweden)

    Lin Li

    2017-06-01

    Conclusion: Anti-M alloimmunization is an important cause of severe fetal hemolytic disease. The characteristics of fetal hemolytic disease due to anti-M alloimmunization may be somewhat different from those of disease due to anti-D alloimmunization.

  3. Hereditary Cerebellar Ataxias: A Korean Perspective

    Directory of Open Access Journals (Sweden)

    Ji Sun Kim

    2015-05-01

    Full Text Available Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.

  4. Dietary pattern, nutritional status, anaemia and anaemia-related knowledge in urban adolescent college girls of Bangladesh.

    Science.gov (United States)

    Kabir, Yearul; Shahjalal, Hussain Mohammad; Saleh, Farzana; Obaid, Wahida

    2010-08-01

    To examine dietary pattern and nutritional status of adolescent college girls of Dhaka, Bangladesh with a particular focus on the prevalence of anaemia and appropriate knowledge about it among them. A cross sectional study was conducted. Sixty-five adolescent girls aged 15-19 years were selected randomly from Home Economics college of Dhaka. A 7-day food frequency questionnaire was used to investigate the dietary pattern. Nutrient intake of the participants was assessed by 24h recall method. Habitual dietary pattern indicated poor consumption of milk, liver and leafy vegetables. Food intake data revealed a deficit of 473 kcal/day in energy. Mean intake of carbohydrate and fat were lower than RDA; while protein, iron, vitamin A and vitamin C intakes were much higher. Anthropometric data indicated that 63% of the girls were stunted (height-for-age anaemia (Hb anaemia; while 72.3% and 80% respectively, knew about the prevention and treatment of anaemia. Surprisingly, 73.8% of the participants were not aware about the sources of iron-rich foods. Results indicate an overall poor nutritional status of the urban adolescent college girls in Bangladesh and need for appropriate nutrition interventions to overcome the problem.

  5. Albright hereditary osteodystrophy: A rare case report

    Directory of Open Access Journals (Sweden)

    Goswami M

    2009-09-01

    Full Text Available Albright hereditary osteodystrophy (AHO is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism. It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.

  6. Therapeutic Strategies for Hereditary Kidney Cancer.

    Science.gov (United States)

    Sidana, Abhinav; Srinivasan, Ramaprasad

    2016-08-01

    The study of hereditary forms of kidney cancer has vastly increased our understanding of metabolic and genetic pathways involved in the development of both inherited and sporadic kidney cancers. The recognition that diverse molecular events drive different forms of kidney cancers has led to the preclinical and clinical development of specific pathway-directed strategies tailored to treat distinct subgroups of kidney cancer. Here, we describe the molecular mechanisms underlying the pathogenesis of several different types of hereditary renal cancers, review their clinical characteristics, and summarize the treatment strategies for the management of these cancers.

  7. [Recurrent urinary lithiasis revealing hereditary xanthinuria].

    Science.gov (United States)

    Bahlous, Afef; Gasmi, Manef; Mohsni, Amira; Abdelmoula, Jaouida

    2007-09-01

    Hereditary xanthinuria, due to a purine metabolism disorder, is a rare cause of urinary lithiasis in children. We report the case of a child aged 3 and a half years, who presented recurrent urinary lithiasis that led to destruction of the right kidney. Infrared spectrophotometric analysis of the calculus concluded that it was composed of 100% xanthine. Laboratory tests showed hypouricemia and hypouricosuria with elevated urinary excretion of oxypurines. These findings led to a diagnosis of hereditary xanthinuria. Early diagnosis of this rare disease is essential to avoid its complications. Metabolic causes must be sought in children with lithiasis.

  8. Shiga toxin-associated hemolytic uremic syndrome complicated by intestinal perforation in a child with typical hemolytic uremic syndrome.

    Science.gov (United States)

    Chang, Hye Jin; Kim, Hwa Young; Choi, Jae Hong; Choi, Hyun Jin; Ko, Jae Sung; Ha, Il Soo; Cheong, Hae Il; Choi, Yong; Kang, Hee Gyung

    2014-02-01

    Hemolytic uremic syndrome (HUS) is one of the most common causes of acute renal failure in childhood and is primarily diagnosed in up to 4.5% of children who undergo chronic renal replacement therapy. Escherichia coli serotype O157:H7 is the predominant bacterial strain identified in patients with HUS; more than 100 types of Shiga toxin-producing enterohemorrhagic E. coli (EHEC) subtypes have also been isolated. The typical HUS manifestations are microangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency. In typical HUS cases, more serious EHEC manifestations include severe hemorrhagic colitis, bowel necrosis and perforation, rectal prolapse, peritonitis, and intussusceptions. Colonic perforation, which has an incidence of 1%-2%, can be a fatal complication. In this study, we report a typical Shiga toxin-associated HUS case complicated by small intestinal perforation with refractory peritonitis that was possibly because of ischemic enteritis. Although the degree of renal damage is the main concern in HUS, extrarenal complications should also be considered in severe cases, as presented in our case.

  9. Severe anaemia in children living in a malaria endemic area of Kenya.

    Science.gov (United States)

    Newton, C R; Warn, P A; Winstanley, P A; Peshu, N; Snow, R W; Pasvol, G; Marsh, K

    1997-02-01

    Severe anaemia is an important cause of morbidity and mortality in African children, but the causes, particularly falciparum malaria, are difficult to determine. We assessed the contribution of falciparum malaria to anaemia in Kenyan children by clinical examination and measurement of parasitaemia and haemoglobin (Hb) concentration in 559 children in the community and in 2412 children admitted to Kilifi district hospital during a 2-year period. We also attempted to characterize severe malarial anaemia by examining the causes and pathophysiology of anaemia in 101 children admitted with Hb concentration anaemia admitted to hospital. There was no difference in the frequency of haemolysis or dyserythropoiesis in the children with malarial anaemia and those with anaemia from other causes, such as iron deficiency or sickle cell disease. The mortality rate in the children with severe malarial anaemia was 8.6% compared with 3.6% in children with severe anaemia due to other causes. Falciparum malaria does not present with a characteristic clinical or haematological picture, but is a major cause of the morbidity and mortality in children with severe anaemia who live on the Kenyan coast, a malaria endemic area.

  10. Iron deficiency anaemia among apparently healthy pre-school children in Lagos, Nigeria.

    Science.gov (United States)

    Akodu, Olufemi S; Disu, Elizabeth A; Njokanma, Olisamedua F; Kehinde, Omolara A

    2016-03-01

    Iron deficiency, and specifically iron deficiency anaemia, remains one of the most severe and important nutritional deficiencies in the world today. To estimate the prevalence and associated factors for iron deficiency anaemia among pre-school children in Lagos. The study was conducted from December 2009 to February 2010 at the outpatient clinics of Lagos State University Teaching Hospital, Lagos. Serum iron, total iron binding capacity, transferrin saturation and serum ferritin were assayed in subjects. The primary outcome measured was iron deficiency anaemia established based on the following criteria: hemoglobin anaemia. Nine of the study subjects (10.11%) had iron deficiency anaemia. The prevalence of iron deficiency anaemia was significantly higher among younger age group than in the older age group (19.1% Vs 2.1%, p = 0.022). The prevalence of iron deficiency anaemia was significantly higher among subjects with weight-for-age, and weight-for-height Z scores below two standard scores (83.3% and 75.0% respectively, p = anaemia among study subjects was 10.11%. Iron deficiency anaemia was more common in children aged two years and below. Weight-for-age and weight-for-height Z scores below minus two standard scores were strongly associated with iron deficiency anaemia.

  11. PREVALENCE OF ANAEMIA IN A SEMI-URBAN POPULATION OF PREGNANT WOMEN

    Directory of Open Access Journals (Sweden)

    Suganthi Ramalingam

    2016-05-01

    Full Text Available INTRODUCTION Anaemia is a serious and prominent problem in the developing countries. This study evaluates the prevalence of anaemia in pregnant women attending the outpatient clinic in a semi-urban hospital for a period of six months. MATERIALS AND METHODS Data from a sample of 500 pregnant women was collected and the patients were screened for anaemia on their booking visit in KFMS&R for a period of six months from March-August 2015. Haemoglobin was estimated by cyanmethaemoglobin method using Systronic photocolorimeter on their first antenatal visit. The degree of anaemia was categorised according to ICMR datamild (10-10.99 g/dL, moderate (7-9.99 g/dL, severe (<7 g/dL. RESULTS It was observed that the prevalence of anaemia was 51.8% in the population under study. The prevalence of mild anaemia was 18.53%, that of moderate anaemia was 63.70% and that of severe anaemia was 17.76%. It was also noticed that the prevalence of anaemia was higher in young pregnant women between 17-21 years of age (63.26%. CONCLUSION Anaemia continues to be a major health problem in India and prevention and early diagnosis will significantly reduce maternal and perinatal morbidity and mortality.

  12. Guidelines for the management of iron deficiency anaemia.

    Science.gov (United States)

    Goddard, Andrew F; James, Martin W; McIntyre, Alistair S; Scott, Brian B

    2011-10-01

    Iron deficiency anaemia (IDA) occurs in 2-5% of adult men and postmenopausal women in the developed world and is a common cause of referral to gastroenterologists. Gastrointestinal (GI) blood loss from colonic cancer or gastric cancer, and malabsorption in coeliac disease are the most important causes that need to be sought. DEFINING IRON DEFICIENCY ANAEMIA: The lower limit of the normal range for the laboratory performing the test should be used to define anaemia (B). Any level of anaemia should be investigated in the presence of iron deficiency (B). The lower the haemoglobin the more likely there is to be serious underlying pathology and the more urgent is the need for investigation (B). Red cell indices provide a sensitive indication of iron deficiency in the absence of chronic disease or haemoglobinopathy (A). Haemoglobin electrophoresis is recommended when microcytosis and hypochromia are present in patients of appropriate ethnic background to prevent unnecessary GI investigation (C). Serum ferritin is the most powerful test for iron deficiency (A). Upper and lower GI investigations should be considered in all postmenopausal female and all male patients where IDA has been confirmed unless there is a history of significant overt non-GI blood loss (A). All patients should be screened for coeliac disease (B). If oesophagogastroduodenoscopy (OGD) is performed as the initial GI investigation, only the presence of advanced gastric cancer or coeliac disease should deter lower GI investigation (B). In patients aged >50 or with marked anaemia or a significant family history of colorectal carcinoma, lower GI investigation should still be considered even if coeliac disease is found (B). Colonoscopy has advantages over CT colography for investigation of the lower GI tract in IDA, but either is acceptable (B). Either is preferable to barium enema, which is useful if they are not available. Further direct visualisation of the small bowel is not necessary unless there are

  13. STUDY OF SYMPTOMS AND SIGNS RELATED TO CARDIO-VASCULAR SYSTEM, ESPECIALLY CARDIAC MURMURS IN SEVERE ANAEMIA AND ITS REVERSIBILITY AFTER CORRECTION OF ANAEMIA

    Directory of Open Access Journals (Sweden)

    Manjiri Pramod Dhamangaonkar

    2017-09-01

    Full Text Available BACKGROUND Anaemia is one of the commonest clinical problems in our country. It affects various organs including heart. Clinical manifestations of anaemia referable to cardiovascular system may closely simulate symptoms and signs of organic heart disease, especially cardiac murmurs. The cardiac murmurs show either improvement or disappearance after correction of anaemia. The aim of this study was to evaluate various clinical changes (symptoms and signs related to cardiovascular system in patients of severe anaemia and their reversibility after treatment of anaemia. MATERIALS AND METHODS 94 patients admitted in medicine wards in government general hospital, Solapur for severe anaemia (Hb concentration less than or equal to 7 gm% were studied. Symptoms, general examinations signs and systemic examination signs related to cardiovascular system were assessed on admission. All patients were treated with deworming, iron therapy (oral or parenteral or blood transfusion. All symptoms, general examination signs and systemic examination signs were reassessed after treatment. RESULTS 1 Majority symptoms and signs related to cardiovascular system, in patients of severe anaemia were found in females. 2 54 patients were having cardiac murmur, out of which 45 were females. 3 All symptoms and signs related to cardiovascular system were either improved or disappeared after treatment. CONCLUSION Patients with cardiac symptoms and or signs should be scrutinized for anaemia and treated accordingly especially females. Majority of these patients show disappearance of symptoms and signs after treatment.

  14. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n¿=¿7,931) and in a sample of Danish patients (n¿=¿7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

  15. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jorn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate...

  16. [Preventive resection of hereditary diffuse gastric cancer

    NARCIS (Netherlands)

    Hoogerbrugge-van der Linden, N.; Ligtenberg, M.J.L.; Nagengast, F.M.; Bonenkamp, J.J.; Krieken, J.H.J.M. van

    2006-01-01

    Hereditary diffuse gastric cancers are rare, accounting for at most 1-3% of gastric cancers. It can be caused by a mutation in the tumour-suppressor gene CDH1. A healthy person carrying a CDH1 mutation has a cumulative risk of developing gastric cancer of 70-80%. In most cases, gastric cancer is

  17. Presumed hereditary retinal degenerations: Ibadan experience ...

    African Journals Online (AJOL)

    Background: Retinitis pigmentosa (RP) is a hereditary retinal degenerative condition with no known treatment. Associated ocular conditions, such as cataract and glaucoma, when present further worsen vision, but these conditions are often treatable. There are, however, no known reports of cataract or glaucoma surgery in ...

  18. Gynecologic screening in hereditary nonpolyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, FEM; Mourits, MJE; Kleibeuker, JH; Hollema, H; van der Zee, AGJ

    2003-01-01

    Objective. In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. Therefore, female members of HNPCC families are offered an annual gynecologic and

  19. Clinical management of hereditary colorectal cancer syndromes.

    Science.gov (United States)

    Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

    2015-02-01

    Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.

  20. Demyelinating polyneuropathy in Leber hereditary optic neuropathy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Schelhaas, H.J.; Cruysberg, J.R.M.; Zwarts, M.J.

    2006-01-01

    We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is

  1. Hereditary spherocytosis presenting as indolent leg ulcers

    Directory of Open Access Journals (Sweden)

    Muhammed K

    1997-01-01

    Full Text Available Indolent leg ulcertation, which is the rarest manifestation of hereditary spherocytosis, started at the age of 5 years affecting a 15-year-old boy and his mother is reported. Review of literature showed very few reports from India and abroad. The response to oral folic acid was excellent

  2. Molecular Basis for Group B β -hemolytic Streptococcal Disease

    Science.gov (United States)

    Hellerqvist, Carl G.; Sundell, Hakan; Gettins, Peter

    1987-01-01

    Group B β -hemolytic Streptococcus (GBS) is a major pathogen affecting newborns. We have investigated the molecular mechanism underlying the respiratory distress induced in sheep after intravenous injection of a toxin produced by this organism. The pathophysiological response is characterized by pulmonary hypertension, followed by granulocytopenia and increased pulmonary vascular permeability to protein. 31P NMR studies of GBS toxin and model components before and after reductive alkaline hydrolysis demonstrated that phosphodiester residues are an integral part of the GBS toxin. Reductive alkaline treatment cleaves phosphate esters from secondary and primary alcohols and renders GBS toxin nontoxic in the sheep model and inactive as a mediator of elastase release in vitro from isolated human granulocytes. We propose that the interaction of cellular receptors with mannosyl phosphodiester groups plays an essential role in the pathophysiological response to GBS toxin.

  3. Coombs negative autoimmune hemolytic anemia in Crohn's disease.

    Science.gov (United States)

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

    2014-12-09

    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. 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 Crohn's disease with chronic anemia, diagnosed by red blood cell-bound immunoglobulin G (RBC-IgG) and treated with steroids therapy.

  4. Study of abdominal MR imaging in hemolytic-uremic syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Yamazaki, Takeshi; Mori, Yasuhiko; Takenaka, Yoshito [Osaka Rosai Hospital, Sakai (Japan)] [and others

    1995-09-01

    This study was performed to examine the usefulness of MR imaging in predicting disease course of hemolytic-uremic syndrome (HUS). The subjects were 7 HUS child patients, including 2 who underwent transfusion, whose ages ranged from one year and nine months to 6 years and nine months. Abdominal MR imaging was performed between 3 days and 11 months from the onset of HUS. Cortico-medullary differentiation (CMD) in the kidney disappeared on T1-weighted images in 4 patients. The presence or absence of CMD was suggested to reflect the renal function, especially glomerular function. T2-weighted images showed low signal intensities in the liver and spleen in 4 patients, which was considered to be due to hemosiderin precipitation, suggesting a correlation with disease stage and transfusion. (Y.S.).

  5. [Hemolytic uremic syndrome induced by gemcitabine. A poorly recognized complication?].

    Science.gov (United States)

    Graas, M P; Houbiers, G; Demolin, G; Stultiens, A; Focan, C

    2012-12-01

    This report is concerned with the development of an hemolytic uremic syndrome (HUS) in 6 patients (3 males, 3 females, aged 53 to 73) suffering from an advanced cancer and treated by protracted (>= 4 months) infusions of gemcitabine. Over 4 to 14 months, the patients received 13-34 infusions delivering a cumulative dose oscillating between 9 and 29 g/m2. A progressive alteration of renal function preceeded the acute syndrome. After interruption of gemcitabine and symptomatic treatment, the evolution of haemolytic anemia was generally favourable. This was not the case for renal dysfunction: 2 complete and 1 partial resolution of renal insufficiency were noted, but 1 case required chronic dialysis. Based on the authors experience, the frequency of an HUS complication after protracted gemcitabine treatment could be as high as 2.7 %.

  6. Shiga toxin-producing Escherichia coli hemolytic uremic syndrome

    Directory of Open Access Journals (Sweden)

    Peco-Antić Amira

    2016-01-01

    Full Text Available The hemolytic-uremic syndrome (HUS is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI. The major cause of HUS in childhood (>90% is infection with verocytotoxin (Shiga-like toxin - “Stx”-producing bacteria, usually enterohemorrhagic Escherichia coli (VTEC/STEC. The infection may be transmitted by the consumption of undercooked meat, pasteurized dairy products, contaminated vegetables, fruits and water, or by contact with STEC diarrhea. After an incubation period of three to eight days, patients commonly develop bloody diarrhea followed in 5-22% by HUS that may be complicated by central nervous system, pancreatic, skeletal, and myocardial involvement. HUS is one of the main causes of AKI in children in Europe. The management of HUS includes the usual treatment of children with AKI. Transfusion with packed red blood cells is needed in case of a severe anemia, while platelet transfusions are limited to the need for a surgical procedure or in active bleeding. Currently, there is no consensus on the use of antibiotic therapy. Treatment with plasma and/or plasma exchange has not been proven beneficial in STEC-HUS. Eculizumab has been used for the treatment of STEC-HUS, but the value of this treatment remains to be determined. The mortality of HUS is reported to be 3-5%. About 12% of patients will progress to end-stage renal failure within four years and about 25% will have long-term complications, including hypertension, proteinuria, renal insufficiency, and insulin-dependent diabetes mellitus. Transplantation can be performed without increased risk for the recurrence of the disease.

  7. Factors influencing hemolytic activity of venom from the jellyfish Rhopilema esculentum Kishinouye.

    Science.gov (United States)

    Yu, Huahua; Li, Cuiping; Li, Ronggui; Xing, Ronge; Liu, Song; Li, Pengcheng

    2007-07-01

    In this study, hemolytic activity of venom from the jellyfish Rhopilema esculentum Kishinouye and some factors affecting it were assayed. The HU(50) of R. esculentum full venom (RFV) against chicken erythrocytes was 3.40 microg/ml and a Hill coefficient value was 1.73 suggesting at least two molecules participated in hemolytic activity. The hemolytic activity of RFV was affected by some chemical and physical factors such as divalent cations, EDTA, (NH(4))(2)SO(4), pH and temperature. In the presence of Mg(2+), Cu(2+), Zn(2+), Fe(2+), Ca(2+) (>or=2 mM), Mn(2+) ((>or=1 mM), EDTA ((>or=2 mM) and (NH(4))(2)SO(4), the hemolytic activity of RFV was reduced. RFV had strong hemolytic activity at the pH 6-10 and the hemolytic ratios were 0.95-1.19. Hemolytic activity was temperature-sensitive and when RFV was pre-incubated at temperatures over 40 degrees C, it was sharply reduced.

  8. Systematic review of anaemia and inflammatory markers in chronic obstructive pulmonary disease.

    Science.gov (United States)

    Hoepers, Andrea Thives de Carvalho; Menezes, Marcia Margarete; Fröde, Tânia Silvia

    2015-03-01

    This systematic review synthesizes the relevant published articles on the prevalence of anaemia in patients with chronic obstructive pulmonary disease (COPD) and its relationship with inflammatory markers. The upregulation of erythropoietin in anaemia maintains homeostasis. However, anaemic COPD patients do not respond to increased levels of erythropoietin. The increased levels could be an indicator of the peripheral erythropoietin resistance in COPD. Anaemia and inflammation are associated with an increased risk of hospitalization and mortality in these patients. The understanding of anaemia in chronic inflammation is that anaemia is at least partially due to the excessive production of inflammatory cytokines, which can contribute to improvements in the management, prognosis, and survival of patients with COPD and anaemia. © 2014 Wiley Publishing Asia Pty Ltd.

  9. Iron deficiency anaemia in children of a peri-urban health facility.

    Science.gov (United States)

    Murila, F V; Macharia, W M; Wafula, E M

    1999-09-01

    To ascertain the prevalence of iron deficiency anaemia(IDA) and its risk factors. A cross-sectional survey. A peri-urban health centre in Nairobi, Kenya. Four hundred and three children, aged six months to six years. Demographic data were obtained and each child examined for signs of iron deficiency anaemia. Blood was drawn for haemoglobin determination. The diagnosis of iron deficiency anaemia was made using a pre-defined criteria. Iron deficiency anaemia had a prevalence of 7.4% (95% CI = 4.8-10.0) and was predominantly mild (93.6%). Age was found to be significantly associated with iron deficiency anaemia with a prevalence of (14.6%) in infants. No association was found between IDA and sex, birthweight, weaning age and weaning diet, sanitation, water source or mother's education. The prevalence of iron deficiency anaemia in this health facility was relatively low and was predominantly mild.

  10. Efficiency of Carbonyl Iron in Prevention of Anaemia in Piglets

    Directory of Open Access Journals (Sweden)

    M. Svoboda

    2007-01-01

    Full Text Available The aim of this study was to evaluate efficiency of elemental iron preparation in the form of carbonyl iron in prevention of iron deficiency in piglets. The piglets in group I (n = 14 were given 210 mg of carbonyl iron orally at the age of 3 days. The piglets in group II (n = 15 received 210 mg of carbonyl iron orally on days 3 and 9. In group III (n = 14 the piglets were injected i.m. with 200 mg Fe3+ as iron dextran. Fourteen days after birth, haemoglobin concentration in group I started to decrease and the piglets developed anaemia. In group II, at the age of 28 days, Hb dropped below 80 g/l and the piglets developed anaemia. Under conditions of this trial, the oral administration of carbonyl iron did not prevent development of iron deficiency in piglets.

  11. Prohepcidin Levels in Refractory Anaemia Caused by Lead Poisoning

    Directory of Open Access Journals (Sweden)

    Jayantha Arnold

    2008-02-01

    Full Text Available Recent research evidence suggests a central role for hepcidin in iron homeostasis. Hepcidin is a hormone synthesized in the liver. Hepcidin is also thought to play a vital role in the pathogenic mechanism of anaemia in patients with inflammation or chronic disease. A 38-year-old female who presented with recurrent abdominal pain was found to have raised urinary porphyrins and a blood lead level of 779 µg/l. Her haemoglobin level was 8.3 g/dl. Her MCV was normal. Serum ferritin, B12 and folate were normal. Her serum prohepcidin level was 2,489 ng/ml (normal <450 ng/ml . To our knowledge, this is the first report of raised prohepcidin levels in a patient with anaemia of chronic disease resulting from lead poisoning.

  12. [Iron deficiency anaemia due to a matriptase-2 mutation].

    Science.gov (United States)

    Cuijpers, M L H Marloes; Wiegerinck, Erwin T G; Brouwer, Rick; de Witte, Theo J M; Swinkels, Dorine W

    2010-01-01

    A 36-year old female patient who had had iron deficiency anaemia since her childhood showed no clear response to oral iron treatment. Elevated serum hepcidin levels were found after excluding other causes of iron deficiency. This is in contrast to what is expected in iron deficiency anaemia and indicates a primary defect in hepcidin regulation. Indeed, in the search for a defect in genes coding for hepcidin-regulating proteins the patient was found to be compound heterozygous for two different mutations in the TMPRSS6 gene. This leads to a dysfunctional matriptase-2 protein for which the gene codes. Consequently, liver cells cannot inhibit hepcidin production in the presence of low serum iron levels. High hepcidin levels result in less iron being absorbed from the bowel than is necessary for erythropoiesis. Therefore, patients with matriptase-2 deficiency respond poorly to oral iron treatment and have to be treated with intravenous iron.

  13. Effect of maternal iron deficiency anaemia on foetal outcome.

    Science.gov (United States)

    Rusia, U; Madan, N; Agarwal, N; Sikka, M; Sood, S K

    1995-07-01

    One hundred and two pregnant women and their neonates were examined to evaluate the effect of maternal haemoglobin concentration (Hb. conc) and iron deficiency anaemia on the placental weight and the foetal outcome. Haematological and serum ferritin values were determined. It was observed that 34.3% of the pregnant women were anaemic. Maternal Hb conc. and serum ferritin showed a highly significant correlation (r = 0.40, p < 0.001) indicating that iron deficiency was the most important cause of anaemia amongst them. The maternal Hb conc. showed a significant correlation with placental weight (p < 0.05), birth weight (p < 0.01), Apgar score (p < 0.001) and birth asphyxia. Maternal serum ferritin also correlated positively with cord ferritin (p < 0.001). The study did not reveal any association between high Hb and adverse foetal outcome.

  14. Maternal Risk Factors for Childhood Anaemia in Ethiopia

    African Journals Online (AJOL)

    AJRH Managing Editor

    Un total de 8260 enfants âgés de 6-59 mois ont été analysés afin d'identifier les facteurs de risque associés à l'anémie de l'enfance ..... achievement. Despite the varying level of childhood anaemia with some background characteristics like residence, wealth index and maternal education, all categories had more than.

  15. [Acute oliguric renal failure and haemolytic anaemia following infectious mononucleosis].

    Science.gov (United States)

    Brkovic, Natasa; Jørgensen, Kit Riegels; Rosenbæk, Jeppe Bakkestrøm; Pedersen, Erling Bjerregaard

    2015-11-09

    A 19-year-old man was admitted to hospital due to fatigue, nausea, abdominal pain and faint. He was pale and icteric, awake with sufficient respiration and circulation. He had infectious mononucleosis complicated with acute oliguric renal failure and severe haemolytic anaemia with a positive Coombs test. He had a cold agglutinin syndrome. The treatment comprised intermittent haemodialysis, plasmapheresis and heating. He recovered completely after two months.

  16. Amelioration of anaemia and organ damage by combined ...

    African Journals Online (AJOL)

    The effect of combined administration of 1000 i.u/100g body weight (bd.wt.) vitamin A and 100 mg/kg bd wt. vitamin C to Trypanosoma brucei brucei-infected rats daily for twenty-one days was investigated. The anaemia caused by T. brucei infection in rats not administered the vitamins was significantly (P<0.05) more severe ...

  17. Hemolytic activity of Trichomonas gallinae isolates does not correspond with clinical virulence.

    Science.gov (United States)

    Gerhold, Richard W; Yabsley, Michael J; Fischer, John R

    2009-03-23

    The hemolytic activity of 22 Trichomonas gallinae isolates was investigated using an 18h erythrocyte hemolysis assay which has been shown to correlate with the clinical virulence of T. vaginalis. Absorbance of the assay supernatants was measured at 540nm and expressed as percentage of complete hemolysis. Mean hemolytic activity of the T. gallinae isolates ranged from 3.5% to 53.4% and did not correspond with clinical virulence. The results of this investigation suggest hemolytic activity is not a useful in vitro virulence assay for T. gallinae.

  18. Co-existence of hereditary spherocytosis and a new red cell pyruvate kinase variant: PK mallorca.

    Science.gov (United States)

    Zarza, R; Moscardó, M; Alvarez, R; García, J; Morey, M; Pujades, A; Vives-Corrons, J L

    2000-03-01

    A partial red blood cell (RBC) pyruvate-kinase (PK-R) deficiency was found in a patient with concomitant hereditary spherocytosis (HS) and chronic hemolytic anemia. Clinical, biological and molecular studies were performed in the patient, his parents and a brother, in order to characterize the specific PK-R gene mutation and the inheritance mechanism of the transmission of both red cell defects in this particular family. Conventional biological studies were used to identify the PK-LR gene mutation responsible for hereditary transmission of PK-R deficiency and HS. The family study was completed with genotypic and RBC membrane protein analyses in the patient and his family. Molecular study of the PK deficiency was performed in all the family members and demonstrated a heterozygous condition for the 1516 G->A (506Val->Ile) mutation at the PK-LR gene in both the patient and his mother. Since this mutation has not been reported previously, it is provisionally named PK "Mallorca". The study of RBC membrane proteins demonstrated the existence of partial band 3 and protein 4.2 deficiencies in the propositus and his father but not in the mother and brother, who were also studied. These results support the dominant mode of inheritance of HS and PK-LR gene in this family. HS and PK deficiency are not exceptional in Spain. The co-existence of both RBC defects in the same patient, however, is very rare; only a few cases have been described to date. Our findings suggest that performing an elementary RBC enzyme survey in all patients with HS would help to determine the real frequency of this apparently rare association.

  19. Magnitude of Maternal Anaemia in Rural Burkina Faso: Contribution of Nutritional Factors and Infectious Diseases

    OpenAIRE

    Nicolas Meda; Malik Coulibaly; Yacouba Nebie; Ibrahima Diallo; Yves Traore; Ouedraogo, Laurent T

    2016-01-01

    Background. Maternal anaemia is a worldwide public health problem affecting particularly developing countries. In Burkina Faso, little data is available for rural areas. This study aimed to determine the prevalence of maternal anaemia and the risk factors associated with it in the rural health district of Hounde in Burkina Faso but also to define better control measures of maternal anaemia. Methods. This cross-sectional study conducted in 2010 had a sample of 3,140 pregnant women attending an...

  20. Kawasaki disease and acute haemolytic anaemia after two IVIG infusions

    Directory of Open Access Journals (Sweden)

    Albena Telcharova-Mihaylovska

    2016-05-01

    Full Text Available Kawasaki disease (KD is one of the most common vasculitis disorders of childhood, affecting predominantly medium-sized arteries, particularly the coronary arteries. For treatment, high-dose intravenous immunoglobulin (IVIG is indicated. IVIG infusions are usually safe and well tolerated even though serious complications can be observed. We present a brief overview of KD and report a two-year-old girl with KD and two IVIG infusions (Gammagard® because of persistent fever after the completion of the first IVIG. Haemolytic anaemia developed after IVIG retreatment. The direct antiglobulin test after haemolysis was positive. The etiology of the haemolysis was related to the presence of transient, passively acquired antibodies that cause a direct antibody-mediated attack. There are few reports of haemolytic anaemia after IVIG infusions. The haemolysis in KD is dose-dependent and occurs more frequently after the second IVIG dose. Non-0 blood group patients are at greater risk. Another factor increasing the risk of haemolysis is also the presence of anaemia due to inflammation in KD.

  1. Preoperative optimisation of anaemia for primary total hip arthroplasty: a systematic review.

    Science.gov (United States)

    Alexander, Dinesh P; Frew, Nicholas

    2017-11-21

    The 2009 NHS Blood and Transplant national comparative audit on blood use following primary total hip arthroplasty (THR) highlighted that preoperative anaemia was common and undertreated. They recommended that hospitals have a written policy for treating anaemia preoperatively. In our centre, we found that preoperative optimisation of anaemia, significantly reduced blood transfusion rate to optimisation of anaemia. The main barrier to wider implementation remains the cost effectiveness. We recommend using our validated protocol, which has shown to significantly reduce transfusion rates, length of stay and remain cost effective.

  2. Prevalence & etiology of nutritional anaemias in early childhood in an urban slum.

    Science.gov (United States)

    Gomber, S; Kumar, S; Rusia, U; Gupta, P; Agarwal, K N; Sharma, S

    1998-06-01

    The present study was carried out to find out the prevalence and etiology of nutritional anaemia among preschool children from an urban slum. Randomly selected 300 children aged 3 months-3 yr were analysed over a period of one year for estimating prevalence of nutritional anaemia. Prevalence was also assessed by the rise in haemoglobin after 8 wk of haematinic supplementation in 159 of the 300 subjects. Ninety anaemic children were evaluated for the etiology of anaemia. Prevalence of anaemia, as judged by WHO recommended 'cut-off' value of haemoglobin < 11 g/dl, was 76 per cent while comparable value of 74.8 per cent was derived by response to haematinic supplementation. Pure iron deficiency anaemia (IDA) was detected in 41.4 per cent (37/90) of anaemic children. Vitamin B12 deficiency alone or in combination with iron was diagnosed in 14.4 and 22.2 per cent anaemic children respectively. Similarly folate deficiency, IDA with infection and anaemia of chronic diseases (ACD) was diagnosed in 2.2, 3.3 and 12.2 per cent cases respectively. Childhood anaemia continues to be a significant public health problem in preschoolers and iron deficiency is by far the commonest nutritional cause of anaemia. Vitamin B12 deficiency per se or in combination with iron is an important yet not commonly recognised cause of anaemias in preschool children in the community.

  3. Anaemia and iron deficiency anaemia among aboriginal schoolchildren in rural Peninsular Malaysia: an update on a continuing problem.

    Science.gov (United States)

    Al-Mekhlafi, M Hesham; Surin, Johari; Atiya, A S; Ariffin, W A; Mahdy, A K Mohammed; Abdullah, H Che

    2008-10-01

    A cross-sectional study to determine the current prevalence of anaemia and iron deficiency anaemia (IDA) and to investigate the possible risk factors for IDA was carried out on 241 aboriginal schoolchildren (120 boys, 121 girls) aged 7-12 years and living in remote areas in Pos Betau, Pahang, Malaysia. Haemoglobin (Hb) level was measured and serum iron status was assessed by serum ferritin (SF), serum iron (SI) and total iron binding capacity measurements. Socioeconomic data were collected using pre-tested questionnaires. All children were screened for intestinal parasitic infections. Overall, 48.5% (95% CI 42.3-54.8) of children were anaemic (HbLow levels of mothers' education and low household income were identified as risk factors for IDA. Severe trichuriasis also found to be associated with low SF and SI. Logistic regression confirmed low levels of mothers' education and gender as significant risk factors for IDA. Improvement of socioeconomic status and health education together with periodic mass deworming should be included in public health strategies for the control and prevention of anaemia and IDA in this population.

  4. [Effects of some membrane lipids on the hemolysis induced by hemolytic toxin from Karenia mikimotoi].

    Science.gov (United States)

    Shi, Zhanpeng; Liu, Jiesheng; Li, Hongye; Cui, Weimin; Yang, Weidong

    2011-05-01

    To explore the effects of some membrane lipids on the hemolysis induced by hemolytic toxin from Karenia mikimotoi. Effects of exogenous membrane lipids such as lecithin, sphingomyelin, L-alpha-phosphatidic acid,cholesterol and gangliosides on the hemolysis induced by the hemolytic toxin were observed. The sensitivities of some erythrocytes from different animals such as rabbit, rat and fish to the hemolytic toxin were evaluated. The total gangliosides in different erythrocytes membrane were detected by colorimetry. Only gangliosides significantly inhibited the hemolysis of the hemolytic toxin from K. mikimotoi (P membrane of rabbit were 672.08 microg/g,and were higher than those of rat (585.97 microg/g) (P membrane.

  5. The first report of cabergoline-induced immune hemolytic anemia in an adolescent with prolactinoma.

    Science.gov (United States)

    Gürbüz, Fatih; Yağcı-Küpeli, Begül; Kör, Yılmaz; Yüksel, Bilgin; Zorludemir, Suzan; Gürbüz, Berrak Bilginer; Küpeli, Serhan

    2014-01-01

    Prolactinomas are common pituitary tumors that can cause gonadal dysfunction and infertility related to hyperprolactinemia. Dopamine agonists are the first-line treatment in these patients. Cabergoline leads to significant reduction in serum prolactin levels and tumor size in patients with prolactinoma. Dopamine agonists have been associated with adverse effects such as nausea, vomiting and psychosis. We report here a case with cabergoline-induced immune hemolytic anemia. The patient had cabergoline treatment history for prolactinoma and presented with weakness, fatigue, nausea, and paleness. Laboratory findings revealed severe anemia-related immune hemolysis. There were no causes identified to explain hemolytic anemia except cabergoline. Therefore, cabergoline therapy was stopped and subsequently hemolytic anemia resolved and did not occur again. This is the first reported pediatric case with prolactinoma and cabergoline-induced hemolytic anemia. Clinicians should be watchful for this rare side effect induced by cabergoline.

  6. Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

    Science.gov (United States)

    de Souza, Paulo Victor Sgobbi; de Rezende Pinto, Wladimir Bocca Vieira; de Rezende Batistella, Gabriel Novaes; Bortholin, Thiago; Oliveira, Acary Souza Bulle

    2017-04-01

    Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade. Clinical characterization of individual and familial history represents the main step during diagnostic workup; however, frequently, few and unspecific data allows a low rate of definite diagnosis based solely in clinical and neuroimaging basis. Likewise, a wide group of neurological acquired and inherited disorders should be included in the differential diagnosis and properly excluded after a complete laboratorial, neuroimaging, and genetic evaluation. The aim of this review article is to provide an extensive overview regarding the main clinical and genetic features of the classical and recently described subtypes of hereditary spastic paraplegia (HSP).

  7. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...... relatively decreased regional cerebral blood flow in most of the cerebellum. We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations....

  8. [Hereditary angioedema: strange cause of abdominal pain].

    Science.gov (United States)

    Salas-Lozano, Nereo Guillermo; Meza-Cardona, Javier; González-Fernández, Coty; Pineda-Figueroa, Laura; de Ariño-Suárez, Mauricio

    2014-01-01

    Hereditary angioedema is an episodic swelling disorder with autosomal dominant inheritance characterized by sudden attacks of peripheral swelling. Patients also commonly have episodic swelling of the wall of hollow viscera, including the bowel. We present a 33-year-old previously healthy male with a complaint of acute-onset intense abdominal pain localized in the epigastrium. Pain irradiated to the right lower quadrant and was associated with five episodes of vomiting. Computed tomography showed thickening of the duodenal wall with liquid in the subphrenic space. Complementary laboratory tests showed low C4 complement levels (5.5 mg/dl) and 30% complement C1 inhibitor activity. Hereditary angioedema is caused by a deficiency (type I) or dysfunction (type II) in complement C1 inhibitor. Abdominal associated with angioedema may manifest as severe acute-onset abdominal pain or as moderately severe chronic recurrent abdominal pain. Two medications are currently FDA-approved for the treatment of these patients.

  9. Disease expression in women with hereditary angioedema

    DEFF Research Database (Denmark)

    Bouillet, Laurence; Longhurst, Hilary; Boccon-Gibod, Isabelle

    2008-01-01

    OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT...... project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills...... improved it for 64%. During pregnancies, 38% of women had more attacks, but 30% had fewer attacks. Vaginal delivery was usually uncomplicated. Attacks occurred within 48 hours in only 6% of cases. Those more severely affected during menses had more symptoms during pregnancies, suggesting a hormone...

  10. [Asymptomatic classical hereditary xanthinuria type 1].

    Science.gov (United States)

    Yakubov, Renata; Nir, Vered; Kassem, Eiass; Klein-Kremer, Adi

    2012-06-01

    We report on a girl who was diagnosed with classical hereditary xanthinuria due to an incidental finding of extremely low Levels of uric acid in the blood. The girl is compLetely asymptomatic. Hereditary xanthinuria is a rare autosomal recessive disease that usually causes early urolithiasis but may cause rheumatoid arthritis-like disease and even be associated with defects in the formation of bone, hair and teeth. In Israel it has mostly been described in patients of Bedouin origin. Throughout the world, only about 150 cases have been described; about two thirds of these patients were asymptomatic. Since the clinical presentation and age of symptom appearance are diverse, the case raises questions as to the required follow-up of these patients and as to whether a low oxalate diet should be initiated.

  11. Occurrence of Streptococcus milleri among beta-hemolytic streptococci isolated from clinical specimens.

    OpenAIRE

    Ruoff, K L; Kunz, L J; Ferraro, M. J.

    1985-01-01

    A total of 256 beta-hemolytic streptococcal isolates were subjected to serological and physiological tests to identify those which could be classified as Streptococcus milleri. S. milleri accounted for 75% of 70 group C isolates, 15% of 69 group G isolates, 75% of 16 nongroupable isolates, and 100% of 20 group F isolates examined. No S. milleri isolates were encountered among the 90 group A streptococci studied. Of the 95 beta-hemolytic S. milleri isolates examined, 81% were recovered from re...

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

    Science.gov (United States)

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

    2005-01-01

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

  13. HEREDITARY FRUCTOSE INTOLERANCE – CASE REPORT

    OpenAIRE

    Jernej Brecelj; Gordana Logar-Car; Henrik Peče

    2002-01-01

    Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed to fructose. Diagnosis was established by fructose tolerance test in the past and nowadays mostly by determination of deficient enzyme fructose-1phosphate aldolase (aldolase B) activity in hepatic tissue or by molecular genetic means if the mutation is known. Treatment involves elimination (in inf...

  14. Nuclear matrix proteins and hereditary diseases.

    Science.gov (United States)

    Sjakste, N; Sjakste, T

    2005-03-01

    The review summarizes literature data on alterations of structure or expression of different nuclear matrix proteins in hereditary syndromes. From the point of view of involvement of nuclear matrix proteins in etiology and pathogenesis of the disease hereditary pathologies can be classified in pathologies with pathogenesis associated with defects of nuclear matrix proteins and pathologies associated to changes of the nuclear matrix protein spectrum. The first group includes laminopathies, hereditary diseases with abnormal nuclear-matrix associated proteins and triplet extension diseases associated with accumulation of abnormal proteins in the nuclear matrix. Laminopathies are hereditary diseases coupled to structural defects of the nuclear lamina. These diseases include Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy (DCM) with conduction system disease, familial partial lipodystrophy (FPLD), autosomal recessive axonal neuropathy (Charcot-Marie-Tooth disorder type 2, CMT2), mandibuloacral dysplasia (MAD), Hutchison Gilford Progeria syndrome (HGS), Greenberg Skeletal Dysplasia, and Pelger-Huet anomaly (PHA). Most of them are due to mutations in the lamin A/C gene, one - to mutations in emerin gene, some are associated with mutations in Lamin B receptor gene. In Werner's, Bloom's, Cockayne's syndromes, Fanconi anemia, multiple carboxylase deficiency mutations in nuclear matrix protein or enzyme gene lead to deficient DNA repair, abnormal regulation of cell growth and differentiation or other specific metabolic functions. Proteins with a long polyglutamic tract synthesized in the cells of patients with dentato-rubral and pallido-luysian atrophy, myotonic dystrophy and Huntington disease interfere with transcription on the nuclear matrix. Down's syndrome is a representative of the group of diseases with altered nuclear matrix protein spectrum.

  15. [Hereditary xanthinuria. A clinical case report].

    Science.gov (United States)

    Pessano, B; Davì, S; La Brocca, A; Leone, L

    1989-05-01

    A case of hereditary xanthinuria in a 68-year-old man with congestive heart failure and alcoholic liver disease is presented. Urolithiasis and muscular symptoms were absent, and the metabolic error was revealed by hypouricemia, hypouricosuria and excess of xanthine and hypoxanthine excretion in urine. Xanthine oxidase (EC 1.2.3.2) activity in liver tissue was absent, confirming the diagnosis of xanthinuria.

  16. Hereditary cerebral small vessel disease and stroke.

    Science.gov (United States)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup; Christensen, Hanne

    2017-04-01

    Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis. These monogenic disorders are often characterized by early-age stroke, but also by migraine, mood disturbances, vascular dementia and often gait disturbances. Some also present with extra-cerebral manifestations such as microangiopathy of the eyes and kidneys. Many present with clinically recognizable syndromes. Investigations include a thorough family medical history, medical history, neurological examination, neuroimaging, often supplemented by specific examinations e.g of the of vision, retinal changes, as well as kidney and heart function. However molecular genetic analysis is the final gold standard of diagnosis. There are increasing numbers of reports on new monogenic syndromes causing cerebral small vessel disease. Genetic counseling is important. Enzyme replacement therapy is possible in Fabry disease, but treatment options remain overall very limited. Copyright © 2017 Elsevier B.V. All rights reserved.

  17. Medical Management of Hereditary Optic Neuropathies

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated. PMID:25132831

  18. Medical management of hereditary optic neuropathies

    Directory of Open Access Journals (Sweden)

    Chiara eLa Morgia

    2014-07-01

    Full Text Available Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON and Dominant Optic Atrophy (DOA. They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1 and 14484/ND6 for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone. Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising venue that still needs to be validated.

  19. Parasitic Infections among Children under Five Years in Senegal: Prevalence and Effect on Anaemia and Nutritional Status

    OpenAIRE

    Tine, Roger C. K.; Faye, Babacar; Ndour, Cheikh T; Sylla, Khadime; Sow, Doudou; Ndiaye, Magatte; Ndiaye, Jean L; Magnussen, Pascal; Alifrangis, Michael; Bygbjerg, Ib C; Gaye, Oumar

    2013-01-01

    Although malaria is declining in many countries in Africa, malaria and anaemia remain frequent in children. This study was conducted to assess the relationship between malaria parasitaemia, intestinal worms, and anaemia, in children

  20. The Acute Hemolytic Anemias: The Importance of Emergency Diagnosis and Management.

    Science.gov (United States)

    Robertson, Jennifer J; Brem, Elizabeth; Koyfman, Alex

    2017-08-01

    Hemolytic anemias are defined by the premature destruction of red blood cells. These anemias have many causes that are mostly due to chronic diseases, but, occasionally, cases of acute life-threatening hemolysis can occur. The objectives of this article were to review the pathophysiology of hemolytic anemias, to discuss the general emergency department (ED) evaluation, and to discuss the assessment and treatment of important and "cannot miss" hemolytic diseases. Because hemolytic anemias are rarely seen, the emergency physician may consider a patient's anemia as due to blood loss rather than hemolysis, and the workup and treatment may not be appropriate. The primary goal for the emergency provider is to resuscitate, but he or she also must recognize that a hemolytic process is present. Appropriate laboratory work and specialist consultation should be obtained. While focused treatment is rarely necessary in the ED, the avoidance of certain treatments, such as early platelet transfusion in thrombotic thrombocytopenic purpura, may be necessary. Hemolytic anemias are rare, but should still be considered in the ED differential diagnosis of low hemoglobin. Emergency physicians should first resuscitate, but should also be able to identify the presence of hemolysis and obtain the appropriate laboratory tests. Occasionally, specific treatments are needed but should be discussed in conjunction with a specialist. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Changing trends in β-hemolytic streptococcal bacteremia in Manitoba, Canada: 2007-2012.

    Science.gov (United States)

    Schwartz, Ilan Steven; Keynan, Yoav; Gilmour, Matthew W; Dufault, Brenden; Lagacé-Wiens, Philippe

    2014-11-01

    European surveillance studies have reported an increasing incidence of β-hemolytic group G streptococcal bacteremia, but no studies have evaluated trends in β-hemolytic streptococcal bacteremia in North America. We reviewed bacteremic episodes and positive throat swab cultures from two tertiary care centers in Manitoba, Canada, from January 2007 to December 2012. During the study period, 19 864 bacteremic episodes, and 9948 positive throat swabs were identified. There were 1025 (5.16%) bacteremic episodes attributable to β-hemolytic streptococci: 425 (2.03%), 339 (1.71%), 62 (0.31%), and 199 (0.95%) to β-hemolytic groups A, B, C, and G streptococci, respectively. From 2007 to 2012, there were significant increases in the proportion of bacteremia attributable to β-hemolytic streptococci in general (6.32% vs. 4.02%; pstreptococcal groups among throat swabs. Bacteremia attributable to β-hemolytic groups G and C streptococci increased in Manitoba, Canada. Further study of the factors underlying these changes is required.

  2. Hereditary Risk Evaluation for Borderline Ovarian Tumors Based on Immunohistochemistry

    OpenAIRE

    Park, Jung Min; Kim, Min Kyu

    2014-01-01

    Objectives Borderline ovarian tumors (BOT) are premalignant lesions. Approximately 10% of all epithelial ovarian cancers are known to be hereditary with hereditary breast and ovarian cancer (HBOC) accounting for approximately 90% of cases; the remaining 10% are attributable to Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC). The aim of our study is to estimate this risk based on screening immunohistochemistry (IHC). Methods Thirty-four patients diagnosed with B...

  3. Alloimmunization in autoimmune hemolytic anemia patient: The differential adsorption approach

    Directory of Open Access Journals (Sweden)

    Ravi C Dara

    2017-01-01

    Full Text Available Patients of β-thalassemia major are dependent on regular blood transfusions for their entire lifetime. Development of antibodies against red blood cell (RBC antigen which may be alloantibody or autoantibody, several times as a result of frequent red cell component transfusions, further complicates the subsequent transfusion therapy. Among the autoantibodies, warm-reactive autoantibodies are commoner and interfere in the pretransfusion testing. These RBC autoantibodies present in patient's serum potentially react with all the cells of antibody identification panel giving “pan-reactive” picture and making alloantibody identification complex. In this report, we present our approach in a thalassemia patient who presented with warm-type autoimmune hemolytic anemia, low hemoglobin of 5.8 g/dl, and three significant alloantibodies (anti-D, anti-S, and anti-Jk b which were masked by pan-reactive warm autoantibody(s. Differential adsorption was used to unmask underlying alloantibodies. We suggest that differential adsorption procedure is an effective and efficient method for autoantibody adsorption, detection, and identification of masked alloantibody(s, especially in patients with low hemoglobin and history of recent blood transfusion.

  4. Acute neurological involvement in diarrhea-associated hemolytic uremic syndrome.

    Science.gov (United States)

    Nathanson, Sylvie; Kwon, Thérésa; Elmaleh, Monique; Charbit, Marina; Launay, Emma Allain; Harambat, Jérôme; Brun, Muriel; Ranchin, Bruno; Bandin, Flavio; Cloarec, Sylvie; Bourdat-Michel, Guylhene; Piètrement, Christine; Champion, Gérard; Ulinski, Tim; Deschênes, Georges

    2010-07-01

    Neurologic involvement is the most threatening complication of diarrhea-associated hemolytic uremic syndrome (D+HUS). We report a retrospective multicenter series of 52 patients with severe initial neurologic involvement that occurred in the course of D+HUS. Verotoxigenic Escherichia coli infection was documented in 24. All except two patients had acute renal failure that required peritoneal dialysis, hemodialysis, or both techniques. A first group of eight patients remained with normal consciousness; five of them had protracted seizures. A second group of 23 patients had stuporous coma; five of these had protracted severe seizures, and 18 had a neurologic defect including pyramidal syndrome, hemiplegia or hemiparesia, and extrapyramidal syndrome. A third group of 21 patients had severe coma. Plasma exchanges were undertaken in 25 patients, 11 of whom were treated within 24 hours after the first neurologic sign; four died, two survived with severe sequelae, and five were alive without neurologic defect. Magnetic resonance imaging (MRI) for 29 patients showed that (1) every structure of the central nervous system was susceptible to involvement; (2) no correlation seemed to exist between special profile of localization on early MRI and the final prognosis; and (3) MRI did not exhibit any focal lesions in three patients. The overall prognosis of the series was marked by the death of nine patients and severe sequelae in 13. Neurologic involvement is associated with a severe renal disease but does not lead systematically to death or severe disability.

  5. Cortical echogenicity in the hemolytic uremic syndrome: clinical correlation.

    Science.gov (United States)

    Choyke, P L; Grant, E G; Hoffer, F A; Tina, L; Korec, S

    1988-08-01

    The initial renal sonograms of 15 patients, aged 8 months to 5 years, with hemolytic uremic syndrome (HUS) were reviewed. Ultrasound studies were graded according to cortical echogenicity relative to the liver, they were compared to the severity of the clinical syndrome at admission and to the ultimate outcome of the disease. The degree of cortical echogenicity correlated with the clinical outcome of HUS in 12 of the patients, whereas clinical assessment alone predicted outcome in 13 patients. Sonography overestimated severity in three patients with mild disease correctly assessed clinically, whereas clinical assessment overestimated severity in two patients with moderate disease in whom the sonographic assessment proved correct. The sonographic changes are most likely multifactorial. They appear to reflect a combination of platelet-thrombus deposition in the renal cortex, as well as the general fluid status of the patient. Ultrasound is useful in ruling out other causes of acute renal failure such as obstruction or congenital diseases. It cannot replace laboratory tests and clinical judgement, but nevertheless provides another index of severity in patients with HUS.

  6. Reliable assessment of the incidence of childhood autoimmune hemolytic anemia.

    Science.gov (United States)

    Aladjidi, Nathalie; Jutand, Marthe-Aline; Beaubois, Cyrielle; Fernandes, Helder; Jeanpetit, Julien; Coureau, Gaelle; Gilleron, Véronique; Kostrzewa, Aude; Lauroua, Pierre; Jeanne, Michel; Thiébaut, Rodolphe; Leblanc, Thierry; Leverger, Guy; Perel, Yves

    2017-12-01

    Childhood autoimmune hemolytic anemia (AIHA) is a rare and severe disease characterized by hemolysis and positive direct antiglobulin test (DAT). Few epidemiologic indicators are available for the pediatric population. The objective of our study was to reliably estimate the number of AIHA cases in the French Aquitaine region and the incidence of AIHA in patients under 18 years old. In this retrospective study, the capture-recapture method and log-linear model were used for the period 2000-2008 in the Aquitaine region from the following three data sources for the diagnosis of AIHA: the OBS'CEREVANCE database cohort, positive DAT collected from the regional blood bank database, and the French medico-economic information system. A list of 281 different patients was obtained after cross-matching the three databases; 44 AIHA cases were identified in the period 2000-2008; and the total number of cases was estimated to be 48 (95% confidence interval [CI]: 45-55). The calculated incidence of the disease was 0.81/100,000 children under 18 years old per year (95% CI 0.76-0.92). Accurate methods are required for estimating the incidence of AIHA in children. Capture-recapture analysis corrects underreporting and provides optimal completeness. This study highlights a possible under diagnosis of this potentially severe disease in various pediatric settings. AIHA incidence may now be compared with the incidences of other hematological diseases and used for clinical or research purposes. © 2017 Wiley Periodicals, Inc.

  7. Surgical complications of hemolytic uremic syndrome: Single center experiences

    Directory of Open Access Journals (Sweden)

    Hooman Nakysa

    2007-01-01

    Full Text Available Purpose: To determine the prevalence, outcome and prognostic factors in children with hemolytic uremic syndrome (HUS who underwent laparotomy. Materials and Methods: The medical records of 104 patients with HUS who presented to our center between 1986 and 2003 were reviewed retrospectively. Data were analyzed using Student′s t test for comparing means, Fisher′s exact test for frequencies and Pearson′s correlation for finding the correlations. Results: 78% of cases presented with vomiting and diarrhea. Seven out of 104 needed surgical exploration. The indications of surgery were acute abdomen, severe abdominal distention and the sign of peritonitis. The findings at laparotomy were intussusceptions, perforation (colon, ileum, gangrene of entire colon, rectosigmoidal tearing, duodenal obstruction and toxic megacolon. Pathological findings were transmural infarction in two cases in which staged surgical management was performed (cecostomy, resection, later anastomosis. Four out of seven patients died because of pulmonary failure, coma and multiple organ failure ( P< 0.05 compared to those who did not need laparotomy. The patients requiring surgery were young (< 3 years, had high leukocyte count (>20000 mm 3 and low albumin level (< 3g/dl ( P< 0.05. Conclusion: Surgical complications of HUS are rare but are assorted with high mortality due to respiratory failure and multiple organ failure. Early decision of laparotomy associated with intensive care, including mechanical ventilation, adequate dialysis and ultrafiltration, are recommended.

  8. A Rare Association of Autoimmune Hemolytic Anemia with Gastric Adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Kavita Agrawal

    2017-01-01

    Full Text Available An 80-year-old male presented with dyspnea on exertion for at least two months. He also complained of progressive dysphagia and weight loss of 35 pounds over the last eight months. Initial blood tests showed hemoglobin of 6.1 g/dl, reticulocytes count of 19.7%, total bilirubin of 3.2 mg/dl, lactate dehydrogenase of 600 U/L, and haptoglobin of less than 8 mg/dl, and direct Coombs test was positive for warm immunoglobulin G. The impression was autoimmune hemolytic anemia (AIHA. The evaluation of dysphagia with esophagogastroduodenoscopy revealed a single irregular 4 cm malignant appearing ulcerated mass at the incisura angularis of the stomach. The mass was confirmed as adenocarcinoma on biopsy. Diagnostic laparoscopy was positive for malignant cells and he was diagnosed with stage IV adenocarcinoma of the stomach. Other extensive workup to determine the etiology of AIHA was negative (described in detail below. Surgery was deferred primarily due to metastasis of cancer. Initially, hemoglobin was stabilized by intravenous methylprednisolone, high dose immunoglobulins, and packed red blood cell transfusions. After a few weeks, hemoglobin started trending down again. The patient was weaned off steroids and paradoxically IgG-mediated autohemolysis was controlled with the initiation of palliative chemotherapy. Our case highlights a rare occurrence of AIHA in association with gastric adenocarcinoma.

  9. [Post-diarrhea hemolytic-uremic syndrome: clinical aspects].

    Science.gov (United States)

    Loirat, C

    2001-09-01

    Every year in France, about 100 children, most of them less than 3 years old, have typical diarrhea-associated HUS (D + HUS). Evidence of exposure to verotoxin producing E. coli (VTEC), mostly the O157: H7 serotype, is demonstrated in about 85% of cases. A prodromal illness of acute gastroenteritis with diarrhea, often bloody, precedes the HUS by 1 to 15 days. HUS onset is sudden, with the typical association of hemolytic anemia with fragmented red blood cells, thrombocytopenia and acute renal insufficiency. Involvement of other organs than the kidneys may occur, such as severe hemorrhagic colitis with rectal prolapse, bowel wall necrosis or secondary stenosis, acute pancreatitis, central nervous system involvement which determines the vital outcome. Early accurate supportive treatment allows a current mortality rate below 5%, with most deaths due to central nervous system involvement. Five to 10% of children develop end stage renal disease, rarely directly, more often after having recovered some renal function with chronic renal insufficiency during a few years. After 15 or more years follow-up, at least one third of patients have some degree of proteinuria and/or hypertension, and eventually chronic or end stage renal failure. Predictive features of poor renal outcome at the acute phase are severe gastrointestinal involvement, severe CNS involvement, polyncleosis over 20,000/mm3, and duration of initial anuria longer than one week. The role of VTEC in D + HUS makes the disease a public health problem. Preventive measures are essential.

  10. Classification and therapeutic approaches in autoimmune hemolytic anemia: an update.

    Science.gov (United States)

    Michel, Marc

    2011-12-01

    Autoimmune hemolytic anemia (AIHA) is an uncommon autoantibody-mediated immune disorder that affects both children and adults. The diagnosis of AIHA relies mainly on the direct antiglobulin test, which is a highly sensitive and relatively specific test. The classification of AIHA is based on the pattern of the direct antiglobulin test and on the immunochemical properties of the autoantibody (warm or cold type), but also on the presence or absence of an underlying condition or disease (secondary vs primary AIHAs) that may have an impact on treatment and outcome. The distinction between AIHAs due to warm antibody (wAIHA) and AIHAs due to cold antibody is a crucial step of the diagnostic procedure as it influences the therapeutic strategy. Whereas corticosteroids are the cornerstone of treatment in wAIHA, they have no or little efficacy in cold AIHA. In wAIHA that is refractory or dependent to corticosteroids, splenectomy and rituximab are both good alternatives and the benefit?risk ratio of each option must be discussed on an individual basis. In chronic agglutinin disease, the most common variety of cold AIHA in adults, beyond supportive measures, rituximab given either alone or in combination with chemotherapy may be helpful. In this article, the classification of AIHA and the recent progress in therapeutics are discussed.

  11. Preoperative anaemia and newly diagnosed cancer 1 year after elective total hip and knee arthroplasty

    DEFF Research Database (Denmark)

    Jørgensen, C. C.; Jans; Kehlet, H.

    2015-01-01

    BACKGROUND: Preoperative anaemia is a well-established risk factor for use of blood transfusions and postoperative morbidity. Consequently, focus on preoperative evaluation of haemoglobin levels is increasing. In this context, iron deficiency anaemia may be a symptom of undiscovered gastrointesti......BACKGROUND: Preoperative anaemia is a well-established risk factor for use of blood transfusions and postoperative morbidity. Consequently, focus on preoperative evaluation of haemoglobin levels is increasing. In this context, iron deficiency anaemia may be a symptom of undiscovered...

  12. Relationship of anaemia and morbidities among children aged 5-14 years in a resettlement area, Delhi

    OpenAIRE

    Pankaj Motilal Kasdekar; Josyula Prasuna; Anika Sulania; Sanjeev Kumar Rasania; Nidhi Dwivedi

    2015-01-01

    Partnership for Child Development (1998), “The anthropometric status of school children in five countries in the Partnership for Child Development”. Proceedings of the Nutrition Society 57: 149- 158.World Health Organization. Anaemia. WHO (2010).World Health Organization (WHO). WHO global database on anaemia: Worldwide prevalence of anaemia 1993-2005. Ge¬neva: WHO, 2008a. [Cited 2014 Aug 24]. Available from: URL: http://www.who. int/vmnis/anaemia/prevalence/en/index. htmlWorld Health Organiza...

  13. Socio-demographic determinants of anaemia and nutritional status in the Democratic Republic of Congo, Uganda and Malawi

    OpenAIRE

    Kandala, N. B. M.

    2013-01-01

    Anaemia is a worldwide public health concern. Anaemia is multifactorial and its related factors are classified according to their position in the pathophysiological process. Socioeconomic and demographic factors such as poor education, cultural norms such as food taboos can predispose children and women to anaemia through immediate causes such as physiological, biological, diet and infections. However, socioeconomic and demographic factors associated with anaemia are not widely reported and i...

  14. Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    National Research Council Canada - National Science Library

    Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Hamed, Sherifa A; Haridy, Nourelhoda A; Federoff, Monica; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Jaunmuktane, Zane; Brandner, Sebastian; Xiromerisiou, Georgia; Wiethoff, Sarah; Schottlaender, Lucia; Proukakis, Christos; Morris, Huw; Warner, Tom; Bhatia, Kailash P; Korlipara, L V Prasad; Singleton, Andrew B; Hardy, John; Wood, Nicholas W; Lewis, Patrick A; Houlden, Henry

    2016-01-01

    The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic...

  15. HEREDITARY COLORECTAL CANCER REGISTRY: A CLEVELAND CLINIC FOUNDATION EXPERIENCE

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    J Church, MBCHB

    2017-07-01

    SUMMARY: the Cleveland Clinic approach to hereditary colorectal cancer is described. This is multidisciplinary, involving several specialties and both genetic counseling and mental health services within the registry.

  16. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy

    National Research Council Canada - National Science Library

    Giordano, Carla; Montopoli, Monica; Perli, Elena; Orlandi, Maurizia; Fantin, Marianna; Ross-Cisneros, Fred N; Caparrotta, Laura; Martinuzzi, Andrea; Ragazzi, Eugenio; Ghelli, Anna; Sadun, Alfredo A; d'Amati, Giulia; Carelli, Valerio

    2011-01-01

    Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex I, is characterized by the selective degeneration of retinal ganglion...

  17. Antiretroviral therapy-induced Leber's hereditary optic neuropathy

    National Research Council Canada - National Science Library

    Moodley, A; Bhola, S; Omar, F; Mogambery, J

    2014-01-01

    .... Individuals with the mutation for Leber's hereditary optic neuropathy (LHON), a mitochondrial disorder, are usually asymptomatic but develop visual loss when exposed to external triggers such as smoking...

  18. Megaloblastic anaemia, diabetes and deafness in a 2-year-old child ...

    African Journals Online (AJOL)

    Megaloblastic anaemia in childhood usually occurs as a result of dietary folate deficiency or, rarely, congenital disorders of vitamin B12 metabolism. We present a 2-year-old girl with megaloblastic anaemia and insulin-dependent diabetes mellitus, both of which proved responsive to pharmacological doses of thiamine.

  19. Food assistance programmes are indirectly associated with anaemia status in children Mexico.

    Science.gov (United States)

    Shamah-Levy, Teresa; Méndez-Gómez-Humarán, Ignacio; Gaona-Pineda, Elsa B; Cuevas-Nasu, Lucia; Villalpando, Salvador

    2016-09-01

    Anaemia in children is a public health concern in Mexico; Federal food assistance programmes are being implemented to prevent it. We undertook this research to investigate the indirect association between food assistance programmes (FAP) and anaemia through dietary and socio-economic conditions of beneficiary children. A structural equation model (SEM) was constructed to assess associations among FAP, dietary and socio-economic conditions, as well as anaemia. A cross-sectional comparative study was conducted based on a sample of 1214 households with children malnutrition with amaranth (RMA) and a comparison group in San Luis Potosí, Mexico. The SEM and a decomposition effect analysis revealed the existence of a significant indirect association of FAP on the prevalence of anaemia via dietary and socio-economic conditions in children under 5 years old. The Prospera assistance programme showed a significant indirect positive association with the prevalence of anaemia (standard coefficient=0·027, P<0·031), and the RMA programme showed a significant indirect negative association with the prevalence of anaemia (standard coefficient=-0·029, P=0·047). There was a direct association between FAP and dietary and socio-economic conditions. FAP could indirectly modify the prevalence of anaemia in young children with a direct improvement on dietary and socio-economic conditions. The unexpected finding of the association between RMA, dietary and socio-economic conditions and the prevalence of anaemia reflects differences in the focus of the programmes.

  20. Risk factors for anaemia in pregnancy in rural KwaZulu-Natal, South ...

    African Journals Online (AJOL)

    26. Van den Broek NR, White SA, Neilson JP. The association between asymptotic HIV infection and the prevalence and severity of anaemia in pregnant Malawian women. Ann J Tro Med Hyg 1998;59:1004–7. [Medline]. 27. Shah BK, Baig LA. Association of anaemia with parasitic infestation in pregnant Nepalese women.

  1. PREVALENCE OF ANAEMIA IN PREGNANT WOMEN ATTENDING A PRIMARY HEALTH CENTRE IN BARPETA DISTRICT, ASSAM

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    Dhritishna

    2016-05-01

    Full Text Available BACKGROUND Anaemia in pregnancy has serious adverse effects on the health of the mother and the developing foetus. OBJECTIVES The study aims to estimate the prevalence of anaemia in pregnant woman attending the Nagaon Primary Health Centre (PHC in Barpeta district, Assam. METHODS A cross-sectional study was carried out from 1 April, 2014 to 1 May, 2014. 100 pregnant women attending Nagaon PHC were interviewed using a predesigned and pretested interview schedule followed by a short clinical examination for pallor and laboratory estimation of haemoglobin. Sahli’s (Acid Haematin method was used for haemoglobin estimation. Haemoglobin level below the cut-off 11 g/dL was used to label a pregnant woman as anaemic and further classified as mild (10-10.9 g/dL, moderate anaemia (7-9.9 g/dL and severe anaemia (<7 g/dL. RESULTS 77% women were suffering from anaemia. Out of these, 57 %were mildly anaemic and 20% were moderately anaemic. Women of younger age groups, greater parity, a gap less than 3 years between subsequent pregnancies, less education and practising Hinduism had a greater prevalence of anaemia. CONCLUSION Awareness about the serious consequences that anaemia can lead to and advocacy of a proper iron-rich diet, regular intake of IFA tablets and purification of water to prevent infestation by parasites can help in reduction of anaemia.

  2. Response of Tripanosoma brucei brucei –induced anaemia to a ...

    African Journals Online (AJOL)

    Jubi Formula® can restore the PCV and Hb concentrations in anaemic conditions and is a potential substitute for blood transfusion. However, further studies are needed to investigate the potentials of the herbal preparation in reversing anaemia. Key words: Anaemia, PCV, rabbits, haemoglobin, herbal preparation.

  3. Risk Factors for Anaemia in Pregnancy in Rural KwaZulu-Natal ...

    African Journals Online (AJOL)

    Background: Anaemia in pregnancy is a major public health problem in developing countries. It is associated with an increased risk of maternal and perinatal morbidity and mortality. A high rate of anaemia in pregnancy in the rural population of KwaZulu-Natal (30% according to national and 57% according to the World ...

  4. Erythropoiesis-stimulating agents for anaemia in chronic heart failure patients

    NARCIS (Netherlands)

    Ngo, Katherine; Kotecha, Dipak; Walters, Julia A. E.; Manzano, Luis; Palazzuoli, Alberto; van Veldhuisen, Dirk J.; Flather, Marcus

    2010-01-01

    Background Chronic heart failure (CHF) is a leading cause of morbidity and mortality worldwide. Anaemia is a common (12-55%) co-morbid condition and is associated with worsening symptoms and increased mortality. Anaemia is treatable and can be targeted in the treatment of patients with CHF.

  5. Iron status and anaemia of chronic disease in HIV-infected African ...

    African Journals Online (AJOL)

    2009-03-11

    Mar 11, 2009 ... Original Research: Iron status and anaemia of chronic disease in HIV-infected African women. 55. Vol 52 No 1. SA Fam Pract 2010. Abstract. SA Fam Pract 2010;52(1):55-59. Background: Anaemia occurs widely among people living with HIV/AIDS. The aim of this study was to investigate the effect of HIV ...

  6. Anaemia in HIV Infection: Relating Red Cell Indices And Iron Profile ...

    African Journals Online (AJOL)

    Anaemia -a frequent complication of HIV infection- is multi-factorial, and its incidence is associated with progression of HIV disease. Recognition of iron related anaemia in HIV infection remains a challenge. Exploring red cell indices and iron profile may provide easier and more efficient diagnostic option. This study aims to ...

  7. Prevalence Of Anaemia In Hiv-Infected Patients At Arv Treatment ...

    African Journals Online (AJOL)

    Type of anaemia based on morphology found 15.2% with dimorphic blood picture 33.4% with macrocytic picture while 51.4% had normocytic normpchromic blood picture. Conclusions: Anaemia is common in our patients and was more severe in advanced stages of the disease in patients with low CD4+T cell counts.

  8. Prevalence of anaemia among HIV-infected patients in Benin City ...

    African Journals Online (AJOL)

    The aim of this study was to use the World Health Organization (WHO) definition of anaemia to determine prevalence of anaemia among human immunodeficiency virus (HIV)-infected patients on the highly active antiretroviral therapy (HAART) and those that are HAART naive. Haemoglobin concentration was measured in ...

  9. Gaps in the evidence for prevention and treatment of maternal anaemia: a review of systematic reviews.

    Science.gov (United States)

    Parker, Jacqui A; Barroso, Filipa; Stanworth, Simon J; Spiby, Helen; Hopewell, Sally; Doree, Carolyn J; Renfrew, Mary J; Allard, Shubha

    2012-06-24

    Anaemia, in particular due to iron deficiency, is common in pregnancy with associated negative outcomes for mother and infant. However, there is evidence of significant variation in management. The objectives of this review of systematic reviews were to analyse and summarise the evidence base, identify gaps in the evidence and develop a research agenda for this important component of maternity care. Multiple databases were searched, including MEDLINE, EMBASE and The Cochrane Library. All systematic reviews relating to interventions to prevent and treat anaemia in the antenatal and postnatal period were eligible. Two reviewers independently assessed data inclusion, extraction and quality of methodology. 27 reviews were included, all reporting on the prevention and treatment of anaemia in the antenatal (n = 24) and postnatal periods (n = 3). Using AMSTAR as the assessment tool for methodological quality, only 12 of the 27 were rated as high quality reviews. The greatest number of reviews covered antenatal nutritional supplementation for the prevention of anaemia (n = 19). Iron supplementation was the most extensively researched, but with ongoing uncertainty about optimal dose and regimen. Few identified reviews addressed anaemia management post-partum or correlations between laboratory and clinical outcomes, and no reviews reported on clinical symptoms of anaemia. The review highlights evidence gaps including the management of anaemia in the postnatal period, screening for anaemia, and optimal interventions for treatment. Research priorities include developing standardised approaches to reporting of laboratory outcomes, and information on clinical outcomes relevant to the experiences of pregnant women.

  10. Effect of different iron sources on the alleviation of nutritional anaemia in common sole (Solea solea)

    NARCIS (Netherlands)

    Kals, J.; Blonk, R.J.W.; Mheen, van der H.W.; Schrama, J.W.; Verreth, J.A.J.

    2016-01-01

    Sole fed commercial pellets suffers from a nutritional anaemia. The hypotheses tested are: (1) the nutritional anaemia in sole fed commercial pellets is caused by an iron deficiency; (2) the assumed iron deficiency is due to inadequate absorption of iron; (3) an increase in absorption due to a

  11. Haemolytic anaemia resulting from the surgical repair of acute type A aortic dissection.

    Science.gov (United States)

    Sekine, Yuji; Yamamoto, Shin; Fujikawa, Takuya; Oshima, Susumu; Ono, Makoto; Sasaguri, Shiro

    2014-02-01

    Haemolytic anaemia after acute aortic dissection surgery is extremely rare. We report 4 cases of haemolytic anaemia with different aetiologies. Four patients underwent emergency operation for acute type A aortic dissection and subsequently developed haemolytic anaemia. Case 1: a 41-year old man underwent hemiarch replacement. We performed total arch replacement 3 years postoperatively, which revealed that haemolytic anaemia was induced by proximal anastomotic stenosis caused by inverted internal felt strip. Case 2: a 28-year old man diagnosed with Marfan syndrome underwent total arch replacement. Five months postoperatively, we noted severe stenosis at the previous distal anastomotic site, which caused the haemolytic anaemia, and performed descending thoracic aortic replacement for a residual dissecting aneurysm. Case 3: a 49-year old man underwent hemiarch replacement. Three years postoperatively, we performed total arch replacement for a residual dissecting aortic arch aneurysm and repaired a kinked graft responsible for haemolytic anaemia. Case 4: a 42-year old man underwent total arch replacement. Eighteen months later, we performed descending thoracic aortic replacement. We repaired a portion of the ascending aorta as haemolityc anaemia was induced by kinking of a total arch replacement redundant graft. All the haemolityc anaemia patients were successfully released after surgical reintervention.

  12. Rational Management of Iron-Deficiency Anaemia in Inflammatory Bowel Disease.

    Science.gov (United States)

    Nielsen, Ole Haagen; Soendergaard, Christoffer; Vikner, Malene Elbaek; Weiss, Günter

    2018-01-13

    Anaemia is the most frequent, though often neglected, comorbidity of inflammatory bowel disease (IBD). Here we want to briefly present (1) the burden of anaemia in IBD, (2) its pathophysiology, which mostly arises from bleeding-associated iron deficiency, followed by (3) diagnostic evaluation of anaemia, (4) a balanced overview of the different modes of iron replacement therapy, (5) evidence for their therapeutic efficacy and subsequently, (6) an updated recommendation for the practical management of anaemia in IBD. Following the introduction of various intravenous iron preparations over the last decade, questions persist about when to use these preparations as opposed to traditional and other novel oral iron therapeutic agents. At present, oral iron therapy is generally preferred for patients with quiescent IBD and mild iron-deficiency anaemia. However, in patients with flaring IBD that hampers intestinal iron absorption and in those with inadequate responses to or side effects with oral preparations, intravenous iron supplementation is the therapy of choice, although information on the efficacy of intravenous iron in patients with active IBD and anaemia is scare. Importantly, anaemia in IBD is often multifactorial and a careful diagnostic workup is mandatory for optimized treatment. Nevertheless, limited information is available on optimal therapeutic start and end points for treatment of anaemia. Of note, neither oral nor intravenous therapies seem to exacerbate the clinical course of IBD. However, additional prospective studies are still warranted to determine the optimal therapy in complex conditions such as IBD.

  13. Autoimmune haemolytic anaemia in an asymptomatic carrier of hepatitis B virus.

    OpenAIRE

    Yoshioka, K; Miyata, H.

    1980-01-01

    A patient with 'warm type' autoimmune haemolytic anaemia (AIHA) was also an asymptomatic carrier of hepatitis B virus (HBV). Although the direct antiglobulin test became negative after the anaemia had recovered spontaneously, antigenaemia of HBV persisted and the serum transaminase level remained normal or borderline. AIHA has not previously been described in association with the asymptomatic carrier state of HBV.

  14. Beyond the cardiorenal anaemia syndrome : recognizing the role of iron deficiency

    NARCIS (Netherlands)

    Macdougall, Iain C.; Canaud, Bernard; de Francisco, Angel L. M.; Filippatos, Gerasimos; Ponikowski, Piotr; Silverberg, Donald; van Veldhuisen, Dirk J.; Anker, Stefan D.

    Growing awareness that heart failure, renal impairment, and anaemia are frequent co-morbidities which can exacerbate one another in a vicious circle of clinical deterioration has led to the concept of the cardiorenal anaemia syndrome (CRAS). The role of iron deficiency within this complex interplay

  15. Pernicious anaemia in association with argyrophil (Sevier-Munger) gastric carcinoid.

    Science.gov (United States)

    Wilander, E; Sundström, C; Grimelius, L

    1979-11-01

    3 cases of pernicious anaemia in association with gastric carcinoid (in 1 case multiple) are described. All tumours were rich in argyrophil cells with the Sevier-Munger and Grimelius staining techniques, indicating that they might be of the enterochromaffin-like cell type. The possible causal relationship between pernicious anaemia and this type of argyrophil carcinoid is discussed.

  16. Prevalence of anaemia in pregnancy in a regional health facility in ...

    African Journals Online (AJOL)

    iron deficiency. Anaemia is associated with substantial health and economic cost implications in LMICs.[1-3]. Iron deficiency in pregnancy is probably due to the fact that ... Anaemia is a major global health problem affecting an estimated 42% of pregnant women worldwide. ... and inadequate child spacing because of lack.

  17. Anaemia and iron deficiency in peri-urban school children born in a ...

    African Journals Online (AJOL)

    Objective: To determine the prevalence of anaemia, iron deficiency and iron deficiency anaemia in school children who were born in a national HIV prevention programme. Design: This was a community based cross-sectional study. Setting: A resource poor peri-urban setting with high prevalence of HIV infection. Subjects: ...

  18. Effect of haematinic supplementation and malaria prevention on maternal anaemia and malaria in western Kenya

    NARCIS (Netherlands)

    van Eijk, Anna M.; Ayisi, John G.; Slutsker, Laurence; ter Kuile, Feiko O.; Rosen, Daniel H.; Otieno, Juliana A.; Shi, Ya-Ping; Kager, Piet A.; Steketee, Richard W.; Nahlen, Bernard L.

    2007-01-01

    OBJECTIVE: To evaluate the effect of routine antenatal haematinic supplementation programmes and intermittent preventive treatment (IPT) with sulphadoxine-pyrimethamine (SP) in Kenya. METHODS: Anaemia [haemoglobin (Hb) <11 g/dl), severe anaemia (Hb <8 g/dl) and placental malaria were compared among

  19. Reliability of FAMACHA chart for the evaluation of anaemia in goats ...

    African Journals Online (AJOL)

    ADEYEYE

    2014-07-25

    Jul 25, 2014 ... The sensitivity of FS was high (64%) when FS 5 and PCV ≤ 19%, were used to determine anaemia, but when FS 4&5 and PCV ≤ 15% were ... gave the most reliable indicator of anaemia in goats, coinciding with the PCV values of ≤ 19%. A high ... examined and classified into one of the five categories ...

  20. Pallor as a sign of anaemia in small Tanzanian children at different health care levels

    DEFF Research Database (Denmark)

    Mogensen, Christian B; Sørensen, Jeff E; Bjorkman, Anders

    2006-01-01

    Anaemia is a major complication of Plasmodium falciparum malaria among small children in sub-Saharan Africa. We studied the performance of the Integrated Management of Childhood Illness (IMCI) recommended assessment of no/some/severe pallor as predictor of anaemia in health surveys at community...

  1. Association of malaria and anaemia in under five children in a rural ...

    African Journals Online (AJOL)

    Background: Anaemia is a major public health problem and contributes significantly to morbidity and mortality particularly in children under five. In endemic areas, malaria is a major contributor to its evolution. This study aimed to determine the association of malaria and anaemia in under five children presenting with fever.

  2. Algorithm for the diagnosis of anaemia without laboratory facilities among small children in a malaria endemic area of rural Tanzania

    DEFF Research Database (Denmark)

    Mogensen, Christian B; Soerensen, Jeff; Bjorkman, Anders

    2006-01-01

    Anaemia among small children in tropical Africa is common and often caused by infection with Plasmodium falciparum. The diagnosis of anaemia is difficult without a laboratory estimation of haemoglobin. The aim of this study was to examine if clinical findings related to malaria and anaemia would...

  3. The additive burden of iron deficiency in the cardiorenal-anaemia axis : scope of a problem and its consequences

    NARCIS (Netherlands)

    Klip, IJsbrand T.; Jankowska, Ewa A.; Enjuanes, Cristina; Voors, Adriaan A.; Banasiak, Waldemar; Bruguera, Jordi; Rozentryt, Piotr; Polonski, Lech; van Veldhuisen, Dirk J.; Ponikowski, Piotr; Comin-Colet, Josep; van der Meer, Peter

    Aims Iron deficiency (ID), anaemia, and chronic kidney disease (CKD) are common co-morbidities in chronic heart failure (CHF) and all independent predictors of unfavourable outcome. The combination of anaemia and CKD in CHF has been described as the cardiorenal-anaemia syndrome. However, the role of

  4. Chronic nonspherocytic hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency: report of two families with novel mutations causing G6PD Bangkok and G6PD Bangkok Noi.

    Science.gov (United States)

    Tanphaichitr, Voravarn S; Hirono, Akira; Pung-amritt, Parichat; Treesucon, Ajjima; Wanachiwanawin, Wanchai

    2011-07-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymopathies worldwide. Mostly G6PD deficient cases are asymptomatic though they may have the risk of neonatal jaundice (NNJ) and acute intravascular hemolysis during oxidative stress. Chronic nonspherocytic hemolytic anemia (CNSHA) due to G6PD deficiency is rare. In Thailand, one case was reported 40 years ago and by biochemical study this G6PD was reported to be a new variant G6PD Bangkok. We, herein, report two families with CNSHA due to G6PD deficiency. In the first family, we have been following up the clinical course of the patient with G6PD Bangkok. In addition to chronic hemolysis, he had three acute hemolytic episodes requiring blood transfusions during childhood period. Multiple gallstones were detected at the age of 27. His two daughters who inherited G6PD Bangkok from him and G6PD Vanua Lava from his wife are asymptomatic. Both of them had NNJ and persistent evidences of compensated hemolysis. Molecular analysis revealed a novel missense mutation 825 G→C predicting 275 Lys→Asn causing G6PD Bangkok. In the second family, two male siblings are affected. They had NNJ and several hemolytic episodes which required blood transfusions. On follow-up they have been diagnosed with chronic hemolysis as evidenced by reticulocytosis and indirect hyperbilirubinemia. Molecular analysis revealed combined missense mutations in exons 12 and 13. The first mutation was 1376 G→T predicting 459 Arg→Leu (known as G6PD Canton) and the second one was 1502 T→G predicting 501 Phe→Cys. We designated the resulting novel G6PD variant, G6PD Bangkok Noi.

  5. The frequency and severity of epistaxis in children with sickle cell anaemia in eastern Uganda

    DEFF Research Database (Denmark)

    Nardo-Marina, Amina Nielsen; Williams, Thomas N; Olupot-Olupot, Peter

    2017-01-01

    BACKGROUND: There are a paucity of data on epistaxis as it pertains to sickle cell anaemia. Some case studies suggest epistaxis to be a significant complication in patients with sickle cell anaemia in sub-Saharan Africa; however, no robust studies have sought to establish the epidemiology...... or pathophysiology of this phenomenon. METHODS: We conducted a case-control study with the aim of investigating the importance of epistaxis among children presenting with sickle cell anaemia at the Mbale Regional Referral Hospital in eastern Uganda. Cases were children aged 2-15 years with an existing diagnosis...... of laboratory confirmed sickle cell anaemia, while controls were children without sickle cell anaemia who were frequency matched to cases on the basis of age group and gender. The frequency and severity of epistaxis was assessed using a structured questionnaire developed specifically for this study. Odds ratios...

  6. Anaemia in the older surgical patient: a review of prevalence, causes, implications and management.

    Science.gov (United States)

    Partridge, Judith; Harari, Danielle; Gossage, Jessica; Dhesi, Jugdeep

    2013-07-01

    This review provides the clinician with a summary of the causes, implications and potential treatments for the management of anaemia in the older surgical patient. The prevalence of anaemia increases with age and is frequently identified in older surgical patients. Anaemia is associated with increased postoperative morbidity and mortality. Allogenic blood transfusion is commonly used to treat anaemia but involves inherent risks and may worsen outcomes. Various strategies for the correction of pre- and postoperative anaemia have evolved. These include correction of nutritional deficiencies and the use of intravenous iron and erythropoesis stimulating therapy. Clear differences exist between the elective and emergency surgical populations and the translation of research findings into these individual clinical settings requires more work. This should lead to a standardized approach to the management of this frequently encountered clinical scenario.

  7. Anaemia among Egyptian Children between 2000 and 2005: trends and predictors.

    Science.gov (United States)

    Austin, Anne M; Fawzi, Wafaie; Hill, Allan G

    2012-10-01

    Anaemia remains the most prevalent nutritional disorder among women and children in the Middle East and North Africa region. We examined anaemia trends using data from the Egyptian Demographic and Health Surveys. Between 2000 and 2005, the prevalence of anaemia (defined as haemoglobin concentrations nutritive foods and increases in the prevalence of childhood diarrhoea between 2000 and 2005. Placing these analyses in the broader context of Egyptian economic trends suggests that the nutritional basket consumed by Egyptian households between 2000 and 2005 may have shifted towards less nutritive foods with lower costs per calorie, probably in response to economic difficulties and increasing food prices. Shifts in dietary consumption, in conjunction with increases in diarrhoea, are likely contributing to the rapid increase in childhood anaemia in Egypt between 2000 and 2005. National-level fortification efforts may be one way to combat rising levels of anaemia among Egyptian women and children. © 2011 Blackwell Publishing Ltd.

  8. The prevalence of iron deficiency anaemia in patients undergoing bariatric surgery.

    Science.gov (United States)

    Khanbhai, M; Dubb, S; Patel, K; Ahmed, A; Richards, T

    2015-01-01

    As bariatric surgery rates continue to climb, anaemia will become an increasing concern. We assessed the prevalence of anaemia and length of hospital stay in patients undergoing bariatric surgery. Prospective data (anaemia [haemoglobin bariatric surgery. Results from a prospective database of 1530 patients undergoing elective general surgery were used as a baseline. Fifty-seven patients (14%) were anaemic pre-operatively, of which 98% were females. Median MCV (fL) and overall median ferritin (μg/L) was lower in anaemic patients (83 vs. 86, p=0.001) and (28 vs. 61, psurgery patients, prevalence of anaemia was similar (14% vs. 16%) but absolute iron deficiency was more common in those undergoing bariatric surgery; microcytosis pbariatric surgery. In bariatric patients with anaemia there was an overall increased length of hospital stay. Copyright © 2013 Asian Oceanian Association for the Study of Obesity. Published by Elsevier Ltd. All rights reserved.

  9. Hookworm-related anaemia among pregnant women: a systematic review.

    Directory of Open Access Journals (Sweden)

    Simon Brooker

    2008-09-01

    Full Text Available Hookworm infection is among the major causes of anaemia in poor communities, but its importance in causing maternal anaemia is poorly understood, and this has hampered effective lobbying for the inclusion of anthelmintic treatment in maternal health packages. We sought to review existing evidence on the role of hookworm as a risk factor for anaemia among pregnant women. We also estimate the number of hookworm infections in pregnant women in sub-Saharan Africa (SSA.Structured searches using MEDLINE and EMBASE as well as manual searches of reference lists were conducted, and unpublished data were obtained by contacting authors. Papers were independently reviewed by two authors, and relevant data were extracted. We compared haemoglobin concentration (Hb according to intensity of hookworm infection and calculated standardised mean differences and 95% confidence intervals. To estimate the number of pregnant women, we used population surfaces and a spatial model of hookworm prevalence.One hundred and five reports were screened and 19 were eligible for inclusion: 13 cross-sectional studies, 2 randomised controlled trials, 2 non-randomised treatment trials and 2 observational studies. Comparing uninfected women and women lightly (1-1,999 eggs/gram [epg] infected with hookworm, the standardised mean difference (SMD was -0.24 (95% CI: -0.36 to -0.13. The SMD between women heavily (4000+ epg infected and those lightly infected was -0.57 (95% CI: -0.87 to -0.26. All identified intervention studies showed a benefit of deworming for maternal or child health, but since a variety of outcomes measures were employed, quantitative evaluation was not possible. We estimate that 37.7 million women of reproductive age in SSA are infected with hookworm in 2005 and that approximately 6.9 million pregnant women are infected.Evidence indicates that increasing hookworm infection intensity is associated with lower haemoglobin levels in pregnant women in poor countries

  10. Association of household environment and prevalence of Anaemia among children under-5 in India

    Directory of Open Access Journals (Sweden)

    Annu eBaranwal

    2014-10-01

    Full Text Available Objective: The study explores the association between the household environment and the prevalence of anaemia among children under the age of five years in India.Data and methodology: The study is based on 52,868 children under the age of five years, included in India’s National Family Health Survey-3. The outcome variable was the prevalence of anaemia. To understand the role of environment in determining child anaemia, step wise logistic regression models consisting of environmental, child, socio-economic and media exposure variables were applied.Results: The occurrence of childhood anaemia 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 anaemia. Smoking when it was controlled with only socio economic factors showed lesser impact on anaemia but when it got adjusted with socio-economic, child and media variables together it showed an important impact as it increased the risk of anaemia. Conclusion: Children under five 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 anaemia 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 programme to manage nutritional deficiency anaemia in children less than five years, there should be a holistic approach towards anaemia control inculcating household environmental conditions and socio economic determinants.

  11. The silent burden of anaemia in Tanzanian children: a community-based study.

    Science.gov (United States)

    Schellenberg, D.; Schellenberg, J. R. M. Armstrong; Mushi, A.; Savigny, D. de; Mgalula, L.; Mbuya, C.; Victora, C. G.

    2003-01-01

    OBJECTIVE: To document the prevalence, age-distribution, and risk factors for anaemia in Tanzanian children less than 5 years old, thereby assisting in the development of effective strategies for controlling anaemia. METHODS: Cluster sampling was used to identify 2417 households at random from four contiguous districts in south-eastern United Republic of Tanzania in mid-1999. Data on various social and medical parameters were collected and analysed. FINDINGS: Blood haemoglobin concentrations (Hb) were available for 1979 of the 2131 (93%) children identified and ranged from 1.7 to 18.6 g/dl. Overall, 87% (1722) of children had an Hb <11 g/dl, 39% (775) had an Hb <8 g/dl and 3% (65) had an Hb <5 g/dl. The highest prevalence of anaemia of all three levels was in children aged 6-11 months, of whom 10% (22/226) had an Hb <5 g/dl. However, the prevalence of anaemia was already high in children aged 1-5 months (85% had an Hb <11 g/dl, 42% had an Hb <8 g/dl, and 6% had an Hb <5 g/dl). Anaemia was usually asymptomatic and when symptoms arose they were nonspecific and rarely identified as a serious illness by the care provider. A recent history of treatment with antimalarials and iron was rare. Compliance with vaccinations delivered through the Expanded Programme of Immunization (EPI) was 82% and was not associated with risk of anaemia. CONCLUSION: Anaemia is extremely common in south-eastern United Republic of Tanzania, even in very young infants. Further implementation of the Integrated Management of Childhood Illness algorithm should improve the case management of anaemia. However, the asymptomatic nature of most episodes of anaemia highlights the need for preventive strategies. The EPI has good coverage of the target population and it may be an appropriate channel for delivering tools for controlling anaemia and malaria. PMID:14576890

  12. Major risk of blood transfusion in hemolytic anemia patients.

    Science.gov (United States)

    Omar, Nagla; Salama, Khaled; Adolf, Sonya; El-Saeed, Gamila S M; Abdel Ghaffar, Nagwa; Ezzat, Nivin

    2011-06-01

    Thalassemia is a congenital hemolytic disease caused by defective globin synthesis treated by blood transfusion. Transfusion-transmitted infections still make a great challenge in the management of patients with thalassemia major. The most important worldwide transfusion-transmitted infections are hepatitis B virus (HBV), hepatitis C virus (HCV) and HIV. The objective of this study is to update the prevalence of the three major transfusion-transmitted infections HCV, HBV and HIV among thalassemic patients followed up in the Hematology Department, Children Hospital, Cairo University. The study included 174 multitransfused thalassemic patients (162 major and 12 intermedia), registered at the Pediatric Hematology Clinic, Cairo University. Their age ranged from 2 to 27 years with a mean of 11.26 ± 5.4 years. Patients were subjected to full history taking, stressing on history of blood transfusions (onset, frequency and duration) at a single or multiple centers and abdominal examination. Laboratory investigations including complete blood count, aminotransferases (aspartate aminotransferase and alanine aminotransferase), ferritin and viral markers of HBV surface antigen (HBsAg), HCV antibodies (anti-HCV) and anti-HIV were assayed for all cases by a third-generation ELISA method. HCV PCR was performed for 75 cases. Of the 174 patients, none of them were HBsAg and anti-HIV positive. However, 90 patients were anti-HCV positive (51.7%). HCV PCR was positive in 56 patients (74.3%) of the 75 with positive antibody tested. HCV antibody positivity is statistically significant with age of the patient, serum ferritin and liver transaminases (P age and serum ferritin (P attention and efforts to challenge. There is a dramatic decrease in the prevalence of HBV infection over the last decade, thanks to mass compulsory vaccination and blood screening. HIV infection does not represent a problem owing to very low population prevalence.

  13. Autoimmune hemolytic anemia in a patient with Malaria.

    Science.gov (United States)

    Sonani, Rajesh; Bhatnagar, Nidhi; Maitrey, Gajjar

    2013-07-01

    Autoimmune Hemolytic Anemia (AIHA), a very infrequent condition which represents a group of disorders in which presence of autoantibodies directed against self-antigens leads to shortened red cell survival. Till date, a very few cases of AIHA in Malaria patients are reported worldwide but still AIHA should be considered a relatively rare cause of anemia in malaria. A 20 year male presented with intermittent fever since seven days and yellowish discoloration of urine and sclera since 5 days. He was transfused three units of blood at a private clinic before one month. On examination, pallor, icterus and spelnomegaly were present. Hemoglobin (Hb) was 3.2 gm% and peripheral smear revealed ring forms of both Plasmodium vivax and Plasmodium falciparum. Serum LDH and Serum billirubin (Indirect and Direct) were high. This patient's blood group was B +ve with positive autocontrol. Indirect Antiglobulin Test (IAT), antibody screening and antibody identification were pan-positive with reaction strength of +4 against each cell. Direct Antiglobulin Test was +4 positive anti IgG and negative with anti C3. He was treated with Artesunate and methylprednisone. Least incompatible, saline washed O Neg and B neg red cells were transfused on the 2(nd) day of starting treatment. Hb was raised to 6.1 gm% on 4(th) day. Patient was discharged on 9th day with Hb 7.0 gm% with oral tapering dose of steroids. In the above case, patient was suffering from high grade malarial parasitemia with co-existing autoimmune RBC destruction by IgG auto-antibodies which led to sudden drop in Hb and rise in serum LDH and indirect billirubin. Least incompatible packed red cells along with antimalarials and steroids led to clinical improvement. So far, one case report each from India, Korea, Canada and Germany and one case series report of three cases from India have been reported. Under-reporting or rarity of this phenomenon may be accountable for this.

  14. [Genetic testing in hereditary spastic paraplegia].

    Science.gov (United States)

    Hadzsiev, Kinga; Balikó, László; Komlósi, Katalin; Lőcsei-Fekete, Anett; Csábi, Györgyi; Bene, Judit; Kisfali, Péter; Melegh, Béla

    2015-01-18

    Hereditary spastic paraplegia is the overall term for clinically and genetically diverse disorders characterized with progressive and variable severe lower extremity spasticity. The most common causes of autosomal dominantly inherited hereditary spastic paraplegias are different mutations of the spastin gene with variable incidence in different ethnic groups, ranging between 15-40%. Mutations in the spastin gene lead to loss of spastins function, causing progressive neuronal failure, which results in axon degeneration finally. The molecular testing of spastin gene is available in the institution of the authors since January, 2014. The experience gained with the examination of the first eleven patients is described in this article. After polymerase chain reaction, Sanger sequencing was performed to examine the 17 exons of the spastin gene. Multiplex ligation-dependent probe amplification was performed to detect greater rearrangements in the spastin gene. Eight of the patients were examined in the genetic counseling clinic of the authors and after detailed phenotype assessment spastin gene testing was obtained. The other three patients were referred to the laboratory from different outpatient clinics. Out of the 11 examined patients, four different pathogenic mutations were found in 5 patients. The first Hungarian data, gained with the examination of spastin gene are presented in this article. The five patients, in whom mutations were detected, represent 45.5% of all tested patients with hereditary spastic paraplegia, which is similar to those published in the international literature. Molecular testing and subsequent detailed genotype-phenotype correlations of the Hungarian patients may serve valuable new information about the disease, which later on may influence our therapeutic possibilities and decisions.

  15. Hereditary Colorectal Cancer (CRC Program in Latvia

    Directory of Open Access Journals (Sweden)

    Irmejs Arvids

    2003-12-01

    Full Text Available Abstract Introduction The aim of the study is to evaluate the incidence and phenotype - genotype characteristics of hereditary colorectal cancer syndromes in Latvia in order to develop the basis of clinical management for patients and their relatives affected by these syndromes. Materials and methods From 02/1999-09/2002 in several hospitals in Latvia cancer family histories were collected from 865 patients with CRC. In families suspected of having a history consistent with a hereditary colorectal cancer syndrome, DNA testing for MLH1, MSH2 and MSH6 genes was performed. In addition immunohistochemical (IH examination of the normal and cancer tissue from large bowel tumors for MSH2 and MSH6 protein expression was performed prior to DNA analysis. Results From the 865 CRC cases only 3 (0.35% pedigrees fulfilled the Amsterdam II criteria of Hereditary Nonpolyposis Colorectal Cancer (HNPCC and 15 cases (1.73% were suspected of HNPCC. In 69 cases (8% with a cancer family aggregation (CFA were identified. Thus far 27 IH analyses have been performed and in 3 cancers homogenous lack of MSH2 or MSH6 protein expression was found. In one of these cases a mutation in MSH6 was identified. In 18 patients suspected of HNPCC or of matching the Amsterdam II criteria, denaturing high performance liquid chromatography (DHPLC followed by DNA sequencing of any heteroduplexes of the 35 exons comprising both MLH1 and MSH2 was performed revealing 3 mutations. For all of kindreds diagnosed definitively or with a high probability of being an HNPCC family appropriate recommendations concerning prophylactic measures, surveillance and treatment were provided in written form. Conclusions Existing pedigree/clinical data suggest that in Latvia the frequency of HNPCC is around 2% of consecutive colorectal cancer patients. It is crucial that genetic counseling is an integral part of cancer family syndrome management.

  16. Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

    Science.gov (United States)

    Porteous, M E; Curtis, A; Williams, O; Marchuk, D; Bhattacharya, S S; Burn, J

    1994-01-01

    A locus causing hereditary haemorrhagic telangiectasia (HHT) has recently been mapped to 9q34 in four families and designated HHT1. In this paper, the results of a linkage study showing genetic heterogeneity in four families in whom HHT is segregating are reported. All the previously reported 9q34 linked families contain at least one affected member with a symptomatic pulmonary arteriovenous malformation. We postulate that clinical heterogeneity may also be a feature of HHT with a significantly higher predisposition to symptomatic PAVMs associated with the HHT1 linked families. PMID:7891373

  17. Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.

    OpenAIRE

    Mateos, F A; Puig, J G; Jiménez, M L; Fox, I H

    1987-01-01

    We tested the hypothesis that there is an enhanced rate of hypoxanthine salvage in two siblings with hereditary xanthinuria. We radiolabeled the adenine nucleotide pool with [8-14C]adenine and examined purine nucleotide degradation after intravenous fructose. The cumulative excretion of radioactivity during a 5-d period was 9.7% and 9.1% of infused radioactivity in the enzyme-deficient patients and 6.0 +/- 0.7% (mean +/- SE) in four normal subjects. Fructose infusion increased urinary radioac...

  18. Asymptomatic hereditary xanthinuria: a case report.

    Science.gov (United States)

    Nagae, A; Murakami, E; Hiwada, K; Sato, Y; Kawachi, M; Kono, N

    1990-01-01

    A 22-year-old man with hereditary xanthinuria is reported. A biochemical study of the patient showed elevated serum levels of xanthine and hypoxanthine with concomitant increases in urinary excretion of xanthine and hypoxanthine. The xanthine oxidase activity in the duodenal mucosa of the patient was about 1.5% of normal value. Urinary excretion of xanthine and hypoxanthine of his parents and his eldest brother were significantly higher than the corresponding normal values, but the values were much less than those of the patient. The results suggested that the patient was homozygote, and his parents and his eldest brother were heterozygotes.

  19. Hereditary mucoepithelial dysplasia and severe respiratory distress

    Directory of Open Access Journals (Sweden)

    Mahmoud Halawa

    2015-01-01

    Full Text Available Hereditary mucoepithelial dysplasia (HMD is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with respiratory distress.

  20. Infectious salmon anaemia virus (ISAV) mucosal infection in Atlantic salmon.

    Science.gov (United States)

    Aamelfot, Maria; McBeath, Alastair; Christiansen, Debes H; Matejusova, Iveta; Falk, Knut

    2015-10-21

    All viruses infecting fish must cross the surface mucosal barrier to successfully enter a host. Infectious salmon anaemia virus (ISAV), the causative agent of the economically important infectious salmon anaemia (ISA) in Atlantic salmon, Salmo salar L., has been shown to use the gills as its entry point. However, other entry ports have not been investigated despite the expression of virus receptors on the surface of epithelial cells in the skin, the gastrointestinal (GI) tract and the conjunctiva. Here we investigate the ISAV mucosal infection in Atlantic salmon after experimental immersion (bath) challenge and in farmed fish collected from a confirmed outbreak of ISA in Norway. We show for the first time evidence of early replication in several mucosal surfaces in addition to the gills, including the pectoral fin, skin and GI tract suggesting several potential entry points for the virus. Initially, the infection is localized and primarily infecting epithelial cells, however at later stages it becomes systemic, infecting the endothelial cells lining the circulatory system. Viruses of low and high virulence used in the challenge revealed possible variation in virus progression during infection at the mucosal surfaces.

  1. Attitude towards pre-implantation genetic diagnosis for hereditary cancer

    NARCIS (Netherlands)

    Lammens, Chantal; Bleiker, Eveline; Aaronson, Neil; Vriends, Annette; Ausems, Margreet; Jansweijer, Maaike; Wagner, Anja; Sijmons, Rolf; van den Ouweland, Ans; van der Luijt, Rob; Spruijt, Liesbeth; Garcia, Encarna Gomez; Ruijs, Marielle; Verhoef, Senno

    2009-01-01

    The use of pre-implantation genetic diagnosis (PGD) for hereditary cancer is subject to on-going debate, particularly among professionals. This study evaluates the attitude towards PGD and attitude-associated characteristics of those concerned: family members with a hereditary cancer predisposition.

  2. Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Tørring, P M; Nissen, H

    2013-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess.......Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess....

  3. Learning Hereditary and Reductive Prolog Programs from Entailment

    Science.gov (United States)

    Hussain, Shahid; Rao, M. R. K. Krishna

    In this paper we study exact learning of Prolog programs from entailment and present an algorithm to learn two rich classes of Prolog programs namely hereditary and reductive Prolog programs. These classes contain standard Prolog programs with and without recursion like append, merge, split, delete, member, prefix, suffix, length, add, etc. Additionally our algorithm learns the hereditary Prolog programs in polynomial time.

  4. Review: Clinical aspects of hereditary DNA Mismatch repair gene mutations

    NARCIS (Netherlands)

    Sijmons, Rolf H.; Hofstra, Robert M. W.

    Inherited mutations of the DNA Mismatch repair genes MLH1, MSH2, MSH6 and PMS2 can result in two hereditary tumor syndromes: the adult-onset autosomal dominant Lynch syndrome, previously referred to as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and the childhood-onset autosomal recessive

  5. Methylation profiles of hereditary and sporadic ovarian cancer

    NARCIS (Netherlands)

    Bol, Guus M.; Suijkerbuijk, Karijn P. M.; Bart, Joost; Vooijs, Marc; van der Wall, Elsken; van Diest, Paul J.

    Aims: Tumour suppressor gene silencing through promoter hypermethylation plays an important role in oncogenesis. Carcinogenesis of hereditary cancers usually differs from that of their sporadic counterparts, but methylation has hardly been studied in hereditary ovarian cancer. The aim of this study

  6. Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency

    DEFF Research Database (Denmark)

    Gulez, N; Genel, F; Atlihan, F

    2010-01-01

    Hereditary complete deficiency of complement component C1q is associated with a high prevalence of systemic lupus erythematosus and increased susceptibility to severe recurrent infections. An 11-year-old girl was screened for immunodeficiency due to a history of recurrent meningitis and pneumonia....... Immunologic studies revealed absence of classic pathway hemolytic activity and undetectable levels of Clq. Exon-specific amplification of genomic DNA by polymerase chain reaction followed by direct sequence analysis revealed a novel homozygous missense mutation at codon 48 in the C1q C gene causing a glycine......-to-arginine substitution affecting the collagen-like region of C1q. No changes were seen in the exons of the A and B chains. The mutation affected both the formation and the secretion of C1q variant molecules. We describe a novel mutation in the C1q C chain gene that leads to an interchange in amino acids resulting...

  7. Hemolytic toxin from the soft coral Sarcophyton trocheliophorum: isolation and physiological characterization

    Directory of Open Access Journals (Sweden)

    S Karthikayalu

    2010-01-01

    Full Text Available The unifying characteristic of cnidarians is the production of protein and polypeptide toxins. The present study describes the identification of a hemolytic toxin from the soft coral Sarcophyton trocheliophorum. The crude extract was highly cytotoxic (EC50 = 50 ng/mL against human erythrocytes. It was also tested for hemolytic activity by the blood agar plate method, resulting in a hemolytic halo of 12 mm with 50 µg of protein. The stability of the venom under different physiological conditions was analyzed. The venom hemolytic activity was augmented by alkaline and neutral pH whereas it was reduced in acidic pH. The activity was stable up to 60º C. The hemolytic activity was completely abolished by the addition of serum and reduced significantly during frequent freezing-thawing cycles. Toxin purification was performed by ammonium sulfate precipitation and subsequently desalted by dialysis against 10 mM sodium phosphate buffer (pH 7.2, followed by anion exchange chromatography on DEAE cellulose column and gel filtration chromatography using Sephadex G-50 matrix. The purified active fractions possessed a prominent protein of approximately 45 kDa, as revealed by SDS-PAGE.

  8. Stevia rebaudiana Bertoni effect on the hemolytic potential of Listeria monocytogenes.

    Science.gov (United States)

    Sansano, S; Rivas, A; Pina-Pérez, M C; Martinez, A; Rodrigo, D

    2017-06-05

    The effect of Stevia rebaudiana Bertoni on the hemolytic potential of Listeria monocytogenes was studied by means of the assessment of the Listeriolysin O (LLO) production. The three factors under study, stevia concentration in the range [0-2.5] % (w/v), incubation temperature (10 and 37°C), and exposure time (0-65h) significantly affected (p≤0.05) the hemolytic activity of L. monocytogenes. Results showed that at the lower incubation temperature the hemolytic potential of the bacterium was significantly reduced, from 100% at 37°C to 8% at 10°C (after 65h of incubation) in unsupplemented substrate (0% stevia). Irrespective of the temperature, 10 or 37°C, supplementation of the medium with stevia at 2.5 % (w/v) reduced the bacterium's hemolytic activity by a maximum of 100%. Furthermore, the time of exposure to 2.5 % (w/v) stevia concentration was also a significant factor reducing the hemolytic capability of L. monocytogenes. The possibility of reducing the pathogenic potential of L. monocytogenes (hemolysis) by exposure to stevia should be confirmed in real food matrices, opening a research niche with a valuable future impact on food safety. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Presumed immune-mediated hemolytic anemia in two foals with Rhodococcus equi infection.

    Science.gov (United States)

    Johns, Imogen C; Desrochers, Anne; Wotman, Kathryn L; Sweeney, Raymond W

    2011-06-01

    To describe the clinical presentation, case management, and outcome in 2 foals with Rhodococcus equi infection associated with presumptive severe immune-mediated hemolytic anemia. Two foals diagnosed with R. equi pneumonia on the basis of tracheal wash cultures, thoracic radiographs, and thoracic ultrasonography were concurrently diagnosed with hemolytic anemia. Both foals required whole blood transfusions, and were treated with the antimicrobial combination of rifampin and a macrolide (eg, clarithromycin, erythromycin, or azithromycin). Dexamethasone was used to prevent further hemolysis in both foals, and to treat acute lung injury/acute respiratory distress syndrome in 1 of the foals. Both foals survived, and required prolonged antimicrobial therapy. Although extra-pulmonary disorders are commonly diagnosed in foals infected with R. equi, hemolytic anemia is rarely described. Dexamethasone is considered the treatment of choice for immune-mediated hemolytic anemia, but may be contra-indicated in foals with severe bacterial infections. In these foals, a relatively low dose and short duration of dexamethasone was utilized in an attempt to minimize immune suppression, although early discontinuation in 1 foal precipitated a second hemolytic crisis. © Veterinary Emergency and Critical Care Society 2011.

  10. Genetic profiles distinguish different types of hereditary ovarian cancer

    DEFF Research Database (Denmark)

    Domanska, Katarina; Malander, Susanne; Staaf, Johan

    2010-01-01

    Heredity represents the strongest risk factor for ovarian cancer with disease predisposing mutations identified in 15% of the tumors. With the aim to identify genetic classifiers for hereditary ovarian cancer, we profiled hereditary ovarian cancers linked to the hereditary breast and ovarian cancer...... that HBOC and HNPCC associated ovarian cancer develop along distinct genetic pathways and genetic profiles can thus be applied to distinguish between different types of hereditary ovarian cancer....... (HBOC) syndrome and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Genome-wide array comparative genomic hybridization was applied to 12 HBOC associated tumors with BRCA1 mutations and 8 HNPCC associated tumors with mismatch repair gene mutations with 24 sporadic ovarian cancers...

  11. Genetic profiles distinguish different types of hereditary ovarian cancer

    DEFF Research Database (Denmark)

    Domanska, Katarina; Malander, Susanne; Staaf, Johan

    2010-01-01

    (HBOC) syndrome and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Genome-wide array comparative genomic hybridization was applied to 12 HBOC associated tumors with BRCA1 mutations and 8 HNPCC associated tumors with mismatch repair gene mutations with 24 sporadic ovarian cancers......Heredity represents the strongest risk factor for ovarian cancer with disease predisposing mutations identified in 15% of the tumors. With the aim to identify genetic classifiers for hereditary ovarian cancer, we profiled hereditary ovarian cancers linked to the hereditary breast and ovarian cancer...... that HBOC and HNPCC associated ovarian cancer develop along distinct genetic pathways and genetic profiles can thus be applied to distinguish between different types of hereditary ovarian cancer....

  12. Malaria is an important cause of anaemia in primigravidae: evidence from a district hospital in coastal Kenya.

    Science.gov (United States)

    Shulman, C E; Graham, W J; Jilo, H; Lowe, B S; New, L; Obiero, J; Snow, R W; Marsh, K

    1996-01-01

    A study was undertaken in order to determine the prevalence and aetiology of anaemia in pregnancy in coastal Kenya, so as to establish locally important causes and enable the development of appropriate intervention strategies. 275 women attending the antenatal clinic at Kilifi district hospital, Kenya, were recruited in November 1993. The prevalence of anaemia (haemoglobin [Hb] anaemia (Hb anaemia (chi 2 test for trend, P = 0.003). Severe anaemia was more than twice as common in women with peripheral parasitaemia as in those who were aparasitaemic, and parasitaemia was associated with a 2.2g/dL decrease in mean haemoglobin level (P iron deficiency and hookworm infection were the dominant risk factors for anaemia. Folate deficiency and human immunodeficiency virus infection were not strongly associated with anaemia. It is suggested that an intervention that can effectively reduce malaria infection in primigravidae could have a major impact on the health of these women and their infants.

  13. Parasitic Infections among Children under Five Years in Senegal: Prevalence and Effect on Anaemia and Nutritional Status.

    Science.gov (United States)

    Tine, Roger C K; Faye, Babacar; Ndour, Cheikh T; Sylla, Khadime; Sow, Doudou; Ndiaye, Magatte; Ndiaye, Jean L; Magnussen, Pascal; Alifrangis, Michael; Bygbjerg, Ib C; Gaye, Oumar

    2013-01-01

    Although malaria is declining in many countries in Africa, malaria and anaemia remain frequent in children. This study was conducted to assess the relationship between malaria parasitaemia, intestinal worms, and anaemia, in children anaemia was found in 53.4% (48.2-58.9), while intestinal parasites and stunting represented 26.2% (22.6-30.2) and 22% (18.6-25.5), respectively. In a logistic regression analysis, anaemia was significantly associated with malaria parasitaemia (aOR= 6.3 (1.5-53.5)) and stunting (aOR = 2 (1.2-3.1)); no association was found between intestinal parasites and anaemia. Malaria and anaemia remain closely associated even when malaria is declining. Scaling up antimalarial interventions may contribute to eliminate malaria and reduce the occurrence of anaemia among children.

  14. DETECTION OF HAEMOGLOBINOPATHIES USING HAEMOGLOBIN ELECTROPHORESIS IN MICROCYTIC HYPOCHROMIC ANAEMIA IN PAEDIATRIC POPULATION OF SOUTHERN ODISHA

    Directory of Open Access Journals (Sweden)

    Meenakshi Mohapatro

    2017-02-01

    Full Text Available BACKGROUND Anaemia is the most common symptom in the developing countries including India where under nutrition is prevalent besides haemoglobinopathy is also prevalent in this geographic region. Haemoglobinopathies especially thalassaemia minor present in the paediatric age group with microcytic hypochromic anaemia and hence often misdiagnosed and treated wrongly as iron deficiency anaemia. Simpler cost-effective techniques like study of haematological indices by performing Complete Blood Count (CBC and in suspicious cases haemoglobin electrophoresis the exact diagnosis can be established at the earliest. MATERIALS AND METHODS Under aseptic condition, 5 mL of blood collected in K2EDTA Vacutainer. One part was analysed in cell count analyser. Other part was used to prepare hemolysate and subsequently gel electrophoresis. RESULTS Gel Electrophoresis is done in 210 cases of microcytic hypochromic anaemia which is detected by haemogram assay, 21% of cases were diagnosed to be thalassaemia and 79% were iron deficiency anaemia. CONCLUSION Iron-Deficiency Anaemia (IDA is the commonest cause of microcytic hypochromic anaemia, the second being thalassaemia. Differential diagnosis is based on complete haemogram and peripheral smear. Serum iron profile study and haemoglobin electrophoresis are must for confirmation of diagnosis.

  15. Magnitude of Maternal Anaemia in Rural Burkina Faso: Contribution of Nutritional Factors and Infectious Diseases

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    Nicolas Meda

    2016-01-01

    Full Text Available Background. Maternal anaemia is a worldwide public health problem affecting particularly developing countries. In Burkina Faso, little data is available for rural areas. This study aimed to determine the prevalence of maternal anaemia and the risk factors associated with it in the rural health district of Hounde in Burkina Faso but also to define better control measures of maternal anaemia. Methods. This cross-sectional study conducted in 2010 had a sample of 3,140 pregnant women attending antenatal care in all the 18 primary health care facilities of the district. The women’s characteristics and their knowledge about contraceptives and sexually transmitted infections (STI were collected. Also, physical and gynaecological examination, completed by vaginal, cervix, blood, and stool samplings, were collected. Results. A prevalence of 63.1% was recorded for maternal anaemia. Geophagy rate was 16.3% and vitamin A deficiency 69.3%. In addition, anaemia was independently associated with low education, low brachial perimeter, geophagy, and primigravida. But no statically significant relationship was found between maternal anaemia and infectious diseases or vitamin A deficiency. Conclusion. The magnitude of maternal anaemia was found to be higher in rural Hounde health district and should be addressed by adequate policy including education and the fight against malnutrition.

  16. Anaemia in older people with chronic heart failure: The potential cost.

    Science.gov (United States)

    Man-Fai Sim, Victor; Nam, Michael Chi Yuen Yuen; Riley, Steve; Yousef, Zaheer; Hurley, Joanna; Cheung, Wai-Yee; O'Mahony, Sinead

    2009-01-01

    Studies suggest benefits from correcting anaemia in heart failure using a combination of erythropoiesis-stimulating agents (ESAs) and intravenous iron. We set out to investigate the number of older patients who would require treatment of anaemia in a large teaching hospital in the United Kingdom and the cost implications. The prevalence of anaemia and chronic kidney disease (CKD) in patients 65 years and older with systolic dysfunction attending the local heart failure clinic was determined. The projected numbers of patients in our health district who would meet published kidney disease guidelines for treatment of anaemia was then estimated. The costs of treatment with combination ESAs and IV iron were calculated for these patients based on the treatment costs for renal anaemia in our local renal unit. Sensitivity analysis for different thresholds of haemoglobin and eGFR was performed. In our study of 86 heart failure patients, mean age 81 years, 34% have anaemia and 73% have stage III CKD with estimated glomerular filtration rate heart failure patients with stage III CKD, 1031 elderly heart failure patients in our health district (total population 424,654) would require treatment with IV iron and erythropoietin, at a cost of pound2.7 million per annum. The estimated cost of treating anaemia in elderly patients with heart failure using ESAs and IV iron is substantial and its cost effectiveness is unknown.

  17. Anaemia among school children older than five years in the Volta Region of Ghana.

    Science.gov (United States)

    Egbi, Godfred; Steiner-Asiedu, Matilda; Kwesi, Faribu Saalia; Ayi, Irene; Ofosu, Winfred; Setorglo, Jacob; Klobodu, Seth Selorm; Armar-Klemesu, Margaret

    2014-01-01

    Anaemia among children is a public health issue in Ghana. The Ghana School Feeding Programme (GSFP) was instituted on pilot basis in an effort to provide nutritious lunch to school children. Evidence on the nutritional status of pupils is needed to inform the expansion of GSFP. This study sought to assess anaemia among Ghanaian pupils. This cross-sectional study involved a random sample of 143 pupils aged 6 to 12 years. Blood samples were collected and analysed for serum-ferritin (SF), C-reactive protein (CRP), haemoglobin and malaria-parasitaemia (MP). Stool samples were examined for soil-transmitted helminths. Dietary data were collected using the 24 hour-recall method on three non-consecutive days and a food frequency questionnaire. The Student's t-test was used to compare mean values between sexes. Binary logistic regression was performed to identify factors associated with anaemia. Statistical significance was set at p anaemia was 30.8%. More females (41.5%) than males (21.8%) had anaemia (p anaemia. Males had a lower likelihood of being anaemic (OR = 0.2, CI 0.1-0.5, p = 0.002). The study findings underscore the need for multi-pronged approaches that address both malaria control and nutrition in order to reduce anaemia among pupils.

  18. Prevalence and socio-demographic factors affecting anaemia in pregnant women of Dibrugarh District, Assam, India

    Directory of Open Access Journals (Sweden)

    Indrani Gogoi

    2016-06-01

    Full Text Available Background: Anaemia is the most common nutritional deficiency observed globally. Anaemia worsens during pregnancy leading to adverse maternal and fetal outcome. Dibrugarh district has the highest maternal mortality in the country, one of the major factor being anaemia during pregnancy. Aims & Objectives: To assess the prevalence and socio-demographic determinants of anaemia in pregnant women of Dibrugarh District. Material & Methods: A community based, cross-sectional study was conducted in a block selected randomly. Study period was for the period from May’2015 to February’2016. Study sample included 290 participants. Results: Prevalence of anaemia among study participants was found to be 73.1%. (Mild 10%, moderate 43.1 % and severe 20%. Mean haemoglobin of study subjects was 9.07±2.26 g/dl. Average age of the study subjects was 23.24±4. Majority (27.2% had their education upto primary school level and belong to class IV socioeconomic status. Univariate analysis and multiple logistic regression analysis shows educational qualification, socioeconomic status and type of housing are statistically associated with anaemia during pregnancy. Conclusion: Anaemia is rampant in the community needing urgent action to prevent morbidity amongst both mother and child

  19. Hereditary ovarian cancer: beyond the usual suspects.

    Science.gov (United States)

    Pennington, Kathryn P; Swisher, Elizabeth M

    2012-02-01

    In the past, hereditary ovarian carcinoma was attributed almost entirely to mutations in BRCA1 and BRCA2, with a much smaller contribution from mutations in DNA mismatch repair genes. Recently, three new ovarian cancer susceptibility genes have been identified: RAD51C, RAD51D, and BRIP1. In addition, germline mutations in women with ovarian carcinoma have been recently identified in many of the previously identified breast cancer genes in the Fanconi anemia (FA)-BRCA pathway. While mutations in genes other than BRCA1 and BRCA2 are each individually rare, together they make up a significant proportion of cases. With at least 16 genes implicated in hereditary ovarian cancer to date, comprehensive testing for ovarian cancer risk will require assessment of many genes. As the cost of genomic sequencing continues to fall, the practice of evaluating cancer susceptibility one gene at a time is rapidly becoming obsolete. New advances in genomic technologies will likely accelerate the discovery of additional cancer susceptibility genes and increase the feasibility of comprehensive evaluation of multiple genes simultaneously at low cost. Improved recognition of inherited risk will identify individuals who are candidates for targeted prevention. In addition, identifying inherited mutations in a variety of FA-BRCA pathway genes may aid in identifying individuals who will selectively benefit from PARP inhibitors. Copyright © 2011. Published by Elsevier Inc.

  20. Genetics of hereditary head and neck paragangliomas.

    Science.gov (United States)

    Boedeker, Carsten C; Hensen, Erik F; Neumann, Hartmut P H; Maier, Wolfgang; van Nederveen, Francien H; Suárez, Carlos; Kunst, Henricus P; Rodrigo, Juan P; Takes, Robert P; Pellitteri, Phillip K; Rinaldo, Alessandra; Ferlito, Alfio

    2014-06-01

    The purpose of this study was to give an overview on hereditary syndromes associated with head and neck paragangliomas (HNPGs). Our methods were the review and discussion of the pertinent literature. About one third of all patients with HNPGs are carriers of germline mutations. Hereditary HNPGs have been described in association with mutations of 10 different genes. Mutations of the genes succinate dehydrogenase subunit D (SDHD), succinate dehydrogenase complex assembly factor 2 gene (SDHAF2), succinate dehydrogenase subunit C (SDHC), and succinate dehydrogenase subunit B (SDHB) are the cause of paraganglioma syndromes (PGLs) 1, 2, 3, and 4. Succinate dehydrogenase subunit A (SDHA), von Hippel-Lindau (VHL), and transmembrane protein 127 (TMEM127) gene mutations also harbor the risk for HNPG development. HNPGs in patients with rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and MYC-associated factor X (MAX) gene mutations have been described very infrequently. All patients with HNPGs should be offered a molecular genetic screening. This screening may usually be restricted to mutations of the genes SDHD, SDHB, and SDHC. Certain clinical parameters can help to set up the order in which those genes should be tested. © 2013 Wiley Periodicals, Inc.