Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Among 990 young male adolescents studied, only 7 were anemic. Three of the anemics had beta-thalassemia trait and 4 had probable alpha-thalassemia trait. Forty-six individuals with hemoglobinopathies were detected: 29 with probable alpha-thalassemia trait, 10 with beta-thalassemia trait and 7 with heterozygous HbE. Heterozygous alpha and beta-thalassemia occurred predominantly in Chinese while heterozygous HbE was found entirely in Malays. There were no cases of established iron deficiency anemia and only 1 had iron deficient erythropoiesis. Folate deficiency occurred only in 8 subjects with thalassemia traits, and no vitamin B12 deficiency was detected.
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PMID:Anemia in male adolescents in Singapore. 620 55

Enlarged spleen, fever, increased susceptibility to infections, and thrombocytosis, are manifestations of iron deficiency which are relatively specific of pediatric patients. Iron deficiency anemia is part of everyday pediatrics. Patients are referred to the hematologist in the following situations: 1) Therapy is ineffective for one of the following reasons: the hypochromic anemia is not caused by iron deficiency (hemoglobinopathies); iron is less efficiently used because of transferrin deficiency or infectious, inflammatory or cancerous disease; iron therapy is inadequate either because of insufficient dosage or of suboptimal duration. 2) A relapse occurs in spite of adequate therapy. Before investigating the digestive tract, abnormal hemostasis. Osler-Weber-Rendu syndrome and pulmonary hemosiderosis should be considered. 3) Iron deficiency anemia is less common in adolescents. This condition, known as chlorosis, results mainly from increased needs, unbalanced diet, and onset of menses. In some cases no explanation is found but iron therapy leads to recovery. 4) Difficult problems arise in patients with complex anemias: iron deficiency with folic acid or vitamin B12 deficiency; hyposideremia complicating one of the hemoglobinopathies.
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PMID:[Iron-deficiency anemia. Hematologist's viewpoint]. 629 49

To permit quantitative study of red cell volume heterogeneity, the coefficient of variation (CV) of erythrocyte volume was determined in blood samples from 868 subjects, including normal individuals and those with various hematologic disorders. In groups of subjects with various hemoglobinopathies, CV increased above normal in parallel with the presence and degree of anemia. However, all subjects with iron, folate, or vitamin B12 deficiency showed marked increase in CV (anisocytosis): increased CV accompanied even early iron deficiency not yet associated anemia or microcytosis. Effects of other conditions on CV also were studied.
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PMID:Heterogeneity of red cell volume: quantitation, clinical correlations, and possible mechanisms. 738 45

Possible causes for a normocytic hyperregeneratory anemia are beside an incomplete treatment of iron deficiency, vitamin B12 deficiency or folic acid deficiency notably a hemolysis. After exclusion of other causes of hemolysis like immune hemolytic anemias, microangiopathic hemolytic anemias and hemoglobinopathies, an enzyme deficiency of erythrocytes should be considered. By far the most common form worldwide is the Glucose-6-phosphate deficiency. In the most frequent variants of this disease hemolysis occurs only during stress, imposed for example by infection, "oxidative" drugs or after ingestion of fava beans. The most serious clinical complication of the Glucose-6-phosphate deficiency is the rarely observed neonatal icterus. Some enzyme variants can cause chronic hemolysis which is described as chronic nonsperocytic hemolytic anemia. This form of chronic anemia can also be caused by other enzyme deficiencies, most frequently by the Pyruvate kinase deficiency. All other deficiencies of glycolytic enzymes are even rarer. It should be noted that in some of these very rare forms neurological rather than hematological symptoms predominate the clinical syndrome. If there is suspicion, on the basis of clinical symptoms and/or familial history, diagnosis of an enzyme deficiency can be achieved relatively easy by measurement of the enzyme activity. Accurate diagnosis might be helpful in therapeutic decisions (e.g. splenectomy in certain forms) and it is essential for genetic counseling, since certain deficiencies are transmitted as autosomal recessive disorders (e.g. pyruvate kinase deficiency), while the most common form, the glucose-6-phosphate dehydrogenase deficiency is linked to the X-chromosome.
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PMID:[Hereditary enzyme defects of erythrocytes: glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency]. 1645 Jul 34

Based on biochemical evidence, a high prevalence of biochemical evidence of vitamin B12 or folate deficiency has been reported in a number of areas in the world. The evidence that these biochemical abnormalities lead to a comparable prevalence of anemia is reviewed. The overall contribution of vitamin B12 deficiency to the global burden of anemia is probably not significant, except perhaps in women and their infants and children in vegetarian communities. In developed countries, folate-deficiency anemia is uncommon. In some developing countries, this anemia is still seen, but there are no comprehensive data on the relative prevalence compared with anemia due to malaria, iron-deficiency, hemoglobinopathy, and HIV disease. It seems unlikely that folate deficiency makes a major contribution to the burden of anemia in developing countries. Iron-deficiency anemia may coexist with vitamin B12 and especially folate deficiency, and may confound the hematological features of the vitamin deficiencies whose prevalence would then be underestimated. Supplementation of the diet of pregnant women with folic acid can virtually eliminate folate-deficiency anemia in these women. There are very few data on the hematological effect of vitamin B12 supplementation or fortification at the population level. The addition of vitamin B12 to the supplementation of the diet of pregnant women with iron and folic acid does not produce an increased hematological response, at least in nonvegetarian populations. There are numerous reports of the effect of folic acid fortification of food on tests of folate status, but only a single published report on the hematological response was found.
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PMID:A high prevalence of biochemical evidence of vitamin B12 or folate deficiency does not translate into a comparable prevalence of anemia. 1870 83

To identify the factors associated with anemia and to document the severity of micronutrient deficiencies, malaria and inflammation, a nationally representative cross-sectional survey was conducted. A three-stage sampling procedure was used to randomly select children <5 years of age and adult women from households in two strata (urban and rural). Household and individual data were collected, and blood samples from children and women were used to measure the prevalence of malaria, inflammation, and deficiencies of iron, vitamin A, folate, and vitamin B12. 839 children and 945 non-pregnant women were included in the survey. In children, the prevalence rates of anemia (76.3%; 95% CI: 71.8, 80.4), malaria (52.6%; 95% CI: 46.0, 59.0), and acute and chronic inflammation (72.6%; 95% CI: 67.5, 77.1) were high. However, the prevalence of vitamin A deficiency (17.4%; 95% CI: 13.9, 21.6) was moderate, and the prevalence of iron deficiency (5.2%; 95% CI: 3.3, 8.1) and iron-deficiency anemia (3.8%; 95% CI: 2.5, 5.8) were low. Malaria and inflammation were associated with anemia, yet they explained only 25% of the population-attributable risk. In women, 44.8% (95% CI: 40.1, 49.5), 35.1% (95% CI: 30.1, 40.4), and 23.6% (95% CI: 20.4, 27.3) were affected by anemia, malaria, or inflammation, respectively. The prevalence rates of iron deficiency (8.3%; 95% CI: 6.2, 11.1), iron-deficiency anemia (6.1%; 95% CI: 4.4, 8.6), vitamin A deficiency (2.1%; 95% CI: 1.1, 3.1) and vitamin B12 deficiency (0.5%; 95% CI: 0.2, 1.4) were low, while folate deficiency was high (79.2%; 95% CI: 74.1, 83.5). Iron deficiency, malaria, and inflammation were significantly associated with anemia, but explained only 25% of cases of anemia. Anemia in children and women is a severe public health problem in Sierra Leone. Since malaria and inflammation only contributed to 25% of anemia, other causes of anemia, such as hemoglobinopathies, should also be explored.
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PMID:Anemia, Micronutrient Deficiencies, and Malaria in Children and Women in Sierra Leone Prior to the Ebola Outbreak - Findings of a Cross-Sectional Study. 2716 54

Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous or a heterozygous trait with other haemoglobinopathies. Though, haemoglobin D-Punjab is commonly seen, a heterozygous trait with beta thalassemia is a very rare presentation. Here, we present a rare case of co-inheritance of haemoglobin D-Punjab and beta thalassemia in a 19-year-old male of Indian origin. He came with gradually progressive generalised weakness with easy fatigability for the past two months. No history of similar complaints in the past. On examination, he was pale and icteric with splenomegaly and Grade I hemorrhoids on systemic examination. On investigation, there was severe anaemia, pancytopenia (mixed picture on smear), vitamin B12 deficiency and raised Lactate Dehydrogenase (LDH). Haemoglobin electrophoresis showed co-inheritance of haemoglobin D-Punjab and beta thalassemia. After Pack Cell Volume (PCV) and B12 supplements, haemoglobin improved. He was counseled about his disease and advised regular follow-up.
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PMID:Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant. 2876 32