Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency was identified in three children who were evaluated because of chronic nonspherocytic hemolytic anemia. One child is of German extraction, another Puerto Rican, and the third Mexican. In each of the patients the hemolytic process was well compensated, but each had one or more episodes of anemia following exposure to an oxidant drug or with infections. The electrophoretic, functional, and kinetic properties of the mutant enzymes, derived both from the patients' erythrocytes and from cultured fibroblasts, allowed each to be distinguished from G-6-PD variants previously described.
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PMID:Three new variants of glucose-6-phosphate dehydrogenase associated with chronic nonspherocytic hemolytic anemia: G-6-PD Lincoln Park, G-6-PD Arlington Heights, and G-6-PD West Town. 53 4

Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in erythrocytes, lymphocytes and muscle of an Italian male, whose family has lived for at least three generations in Lodi (Lombardy, northern Italy). The subject was hospitalized for myalgia and dark urine after intense physical exercise, but no sign of anemia and chronic hemolysis were present at rest. Family studies revealed that the mother and the maternal aunt had the same enzymopathy. The enzyme-specific activity in red blood cells was 15% of control and the kinetic properties were the following: slower electrophoretic mobility; biphasic pH activity curve; slightly reduced thermal stability, and increased utilization of the substrate analogs. The analysis of our patient's DNA showed a G----C mutation at nucleotide 844 which causes an Asp----His amino acid change in position 282. This is the same mutation found by De Vita et al. in the G6PD Seattle-like variant. However, by following a new convention, we labelled our variant as G6PD Lodi844C. As far as the muscle is concerned, we found that the enzyme-specific activity in this tissue was 14% of control values, but cultured myotubes and myoblasts revealed a normal level of G6PD as well as skin fibroblasts. On the contrary in the same type of cultured cells obtained from G6PD Mediterranean subjects, the G6PD activity was about 20% of normal. Our results complete the characterization of this mutant enzyme, demonstrate the expression of the deficit in muscle and describe the enzyme behaviour in cultured cells.
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PMID:Glucose-6-phosphate dehydrogenase Lodi844C: a study on its expression in blood cells and muscle. 182 63

Blood samples from 722 unrelated patients with anemia and/or reticulocytosis were submitted to our laboratory for red cell enzyme assay during the past 7 years. Among these 722 cases, we found 82 cases of 7 different red cell enzyme deficiencies and 2 of unstable hemoglobin. Abnormalities of pyruvate kinase (PK) were found to cause hemolysis in 55 patients. Although their average PK activity was about 35% of the normal level, 5 showed normal and 2 demonstrated high PK activity. Among 17 patients in whom pyruvate kinase assays or screening tests had been carried out in routine laboratories, the correct diagnoses had been made in only 4. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was found in 15 patients, pyrimidine 5'-nucleotidase deficiency in 5, glucose phosphate isomerase deficiency in 3, adenylate kinase deficiency in 2, phosphoglycerate kinase deficiency in 1, and glutathione synthetase deficiency in 1 patient. Even after we performed a panel of over 20 different red cell enzyme assays, 519 patients still remained undiagnosed.
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PMID:Enzymatic diagnosis in non-spherocytic hemolytic anemia. 335 12

Blackwater fever (BWF) is a severe clinical syndrome, characterized by intravascular hemolysis, hemoglobinuria, and acute renal failure that is classically seen in European expatriates chronically exposed to Plasmodium falciparum and irregularly taking quinine. BWF virtually disappeared after 1950, when chloroquine superseded quinine. We report 21 cases of BWF seen in France from 1990 through 1999 in European expatriates who lived in sub-Saharan Africa. All patients had macroscopic hemoglobinuria, jaundice, and anemia. Acute renal failure occurred in 15 patients (71%), 7 of whom required dialysis. The presumed triggers of BWF were halofantrine (38%), quinine (24%), mefloquine (24%), and halofantrine or quinine (14%). Glucose-6-phosphate dehydrogenase (G6PD) activity was normal in the 14 patients who underwent this test. Low-level P. falciparum parasitemia was found in 8 patients. All 21 patients survived. Our data and 13 cases reported in the literature suggest a resurgence of classic BWF among Europeans living in Africa and a need to discuss attendant therapeutic implications.
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PMID:Resurgence of blackwater fever in long-term European expatriates in Africa: report of 21 cases and review. 1128 2

Glucose-6-phosphate dehydrogenase (G6PD) deficiency confers protection against malaria in children, yet its role in malaria in pregnancy is unknown. In a cross-sectional study among 529 pregnant Ghanaian women, Plasmodium falciparum infection, anaemia and G6PD genotypes were assessed. Of these, 30.4% were heterozygous and 2.6% were homozygous for G6PD deficiency. The prevalence of P. falciparum infection decreased from 66% in G6PD-normal women to 58% in heterozygotes, and to 50% in individuals with homozygous G6PD deficiency (Chi2(trend) = 4.4, P = 0.04). Multivariate analysis revealed that in multigravid women but not in primigravidae, heterozygous G6PD deficiency was associated with a reduced risk of P. falciparum infection (Odds ratio (OR), 0.6; 95% confidence interval (95% CI), [0.4-0.9]). This protection against infection was limited to the third trimenon of pregnancy. In addition, heterozygous G6PD deficiency was associated with a reduced risk of anaemia among infected multigravidae (OR, 0.5 [0.3-1.0]). Pregnancy is a period of high vulnerability to malaria. The results of this study provide evidence for protection against malaria in pregnancy caused by heterozygous G6PD deficiency. This advantage, even if confined to multigravid women, may contribute to the selection of G6PD variants in malaria-endemic regions.
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PMID:Reduced prevalence of Plasmodium falciparum infection and of concomitant anaemia in pregnant women with heterozygous G6PD deficiency. 1258 35

The Genetic Blood Disorders Survey is the first community-based survey in the Arabic world and the Middle East to determine the prevalence of the most common genetic blood disorders. The objective of the survey was to determine the prevalence of the most common genetic blood disorders reported among Omani children under 5 years of age in order to provide the planners and policy-makers with reliable information suitable for formulating health policies, planning, and evaluation. The survey was designed, executed, and financed by the Ministry of Health of the Sultanate of Oman. To reduce costs and save effort and time, data collection for the survey was implemented with the Gulf Family Health Survey (GFHS). The GFHS in the Sultanate of Oman is a research project undertaken by the Council of Health Ministers of the Gulf Co-operation Council States. The six member countries have participated in this GFHS project. A total of 6103 households were interviewed. From these households 6342 children under 5 years of age were taken by their parents to neighbourhood hospitals or health centres for blood collection. Fifty-one per cent of the sample were male and 49 per cent were female. Among the child respondents, 17.9 per cent were in the age group 0 to < 1 year, 20.3 per cent were in the age group 1 to < 2 years, 21.1 per cent were in the age group 2 to < 3 years, 20.5 per cent were in the age group 3 to < 4 years, and 20.2 per cent were in the age group 4 to 5 years. Fifty-five per cent of the mothers of the children studied were illiterate, 9 per cent could read and write but had less than primary education, 20 per cent had completed primary school, 9 per cent had attended preparatory school, 5 per cent had attended secondary school, 1 per cent had had intermediate education, while 0.6 per cent had completed university or higher education. The results of this survey revealed that haemoglobinopathies are prevalent in Oman; the prevalence of sickle cell trait was 6 per cent, and of beta-thalassaemia 2 per cent. The prevalence of sickle cell and homozygous beta-thalassaemia were 0.2 and 0.07 per cent, respectively. Other abnormal haemoglobins (Hb) have been detected in this survey; HbD (0.6 per cent), HbE (0.3 per cent), HbC (0.02 per cent). Combination of sickle cell with other abnormal Hb was also detected at low prevalence. Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency had a high prevalence in Oman, being 25 per cent in males and 10 per cent in females. Among the children studied, three-quarters (74.5 per cent) were found to be free from haemoglobinopathies and G6PD normal, the rest (25.5 per cent), either had haemoglobinopathies (7.5 per cent), G6PD deficiency (16 per cent) or a combination of G6PD deficiency with at least one abnormal Hb (2 per cent). The prevalence of total haemoglobinopathies in Oman was 9.5 per cent. The prevalence of sickle cell trait varied between regions, North Sharqiya had the highest prevalence of 10 per cent. Dakhiliya (9 per cent), followed by Muscat and South Batinah 8 and 7.9 per cent, respectively. The prevalence of sickle cell trait declined by a half in Musandam, South Sharqiya, Dhahira, and North Batinah (4.7, 3.9, 3.9, and 2.9 per cent respectively). Dhofar had the lowest prevalence of 0.2 per cent and no cases of sickle cell trait were found in the Al-Wousta region in the sample selected. The prevalence of beta-thalassaemia trait ranged from 3.9 to 0.2 per cent. Three regions had high rates: North Batinah (3.9 per cent), Muscat (2.8 per cent), and Dakhiliya (2 per cent). The other five regions in the Sultanate have lower rates: Dhahira (1.7 per cent), Musandam (1.6 per cent), South Batinah (1.5 per cent), South Sharqiya (1.2 per cent), and North Sharqiya (1.1 per cent). The prevalence of beta-thalassaemia trait in Dhofar was 0.2 per cent and no cases were detected in the Al-Wousta region. The prevalence of G6PD deficiency reached 29 per cent in Dakhiliya, 26 per cent in South Batinah, 21 per cent in Dhahira, 19 per cent in Muscat and 17 per cent in North Sharqiya and North Batinah. The prevalence declined to 10 per cent in Musandam, 9 per cent in South Sharqiya, Dhofar had the lowest prevalence of 2 per cent and no cases of G6PD deficiency were found in Al-Wousta. The male to female ratio was 2.5:1. In all regions of the Sultanate, prevalence of G6PD deficiency in males were more than twice those in females. From the above rates, it could be calculated that in the whole Sultanate 44,733 children under 5 years of age have G6PD deficiency, 14,306 have sickle cell trait, 474 have sickle cell disease, 5393 have beta-thalassaemia trait, and 175 have beta-thalassaemia major. The study showed that the mean Hb level of children under 5 years of age was 10.9 g/dl for both males and females; the mean Hb level for males was 10.89 g/dl and for females 10.99 g/dl, the difference between males and females was significant. The study revealed that half of the children under 5 years of age were anaemic. Mild anaemia was predominant (46 per cent), while moderate and severe anaemia were 4 and 0.2 per cent respectively. The status of anaemia among children improved with age; mild anaemia was prevalent in 65 per cent of children between ages 0 to < or = 1 years then decreased with age until it reached 30 per cent at 4-5 years of age. The survey produced the first normal haematological indices for children under 5 years of age to be used as a reference in the country. The blood picture of the normal subjects in the survey showed that the mean Hb value for males was 11.9 g/dl and for females 11.8 g/dl. The children had reduced values of MCH and MCV compared to normal international values, the reason for this could be alpha-thalassaemia or iron deficiency. The children maintained high values of HbF (more than 1.2 per cent) even after their first birthday. HbF reached its normal level at 5 years of age. Marriage of first cousins among the parents of the children studied under 5 years of age was 34 per cent. Total consanguinity rate including second cousin relationships and beyond was 58 per cent. We recommend that a national prevention programme for genetic blood disorders be formulated by the authorities. The programme could be included in the Ministry of Health 5-year health development programme for prevention of non-communicable diseases which already exists.
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PMID:Genetic Blood Disorders Survey in the Sultanate of Oman. 1293 93

Glucose-6-phosphate dehydrogenase (G-6-PDH) deficiency is the most common known human genetic polymorphism. This study tested the hypothesis that G-6-PDH deficiency worsens sepsis-induced erythrocyte dysfunction. Sepsis (24 h) was induced by cecal ligation and puncture in wild-type (WT) and G-6-PDH-deficient (G-6-PDH activity 15% of WT) mice. Erythrocyte responses were tested in whole blood as well as in subpopulations of circulating erythrocytes. Whereas erythrocyte deformability was similar in unchallenged deficient and WT animals, sepsis decreased erythrocyte deformability that was more pronounced in deficient than WT animals. Sepsis also resulted in anemia and hemolysis in deficient compared with WT animals. Mean corpuscular hemoglobin content and erythrocyte deformability decreased in younger erythrocyte subpopulations from septic deficient compared with WT animals. Sepsis decreased the reduced-to-oxidized glutathione ratio in erythrocytes from both deficient and WT animals; however, plasma glutathione increased more in deficient than in WT animals. Erythrocyte content of band 3 associated with the cytoskeleton was elevated in deficient compared with WT erythrocytes. The antioxidant N-acetyl-l-cysteine in vivo alleviated the sepsis-induced decrease in erythrocyte deformability in deficient animals compared with sham-operated control animals. This study demonstrates that a mild degree of G-6-PDH deficiency (comparable to the human class III G-6-PDH deficiencies) worsens erythrocyte dysfunction during sepsis. Increased erythrocyte rigidity and tendency for hemolysis together with alterations in band 3-spectrin interactions may contribute to the immunomodulatory effects of G-6-PDH deficiency observed after major trauma and infections in humans.
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PMID:Red blood cell dysfunction in septic glucose-6-phosphate dehydrogenase-deficient mice. 1475 57

Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme of the pentose phosphate shunt pathway a major function of which is to prevent cellular oxidative damage. Deficiency in red blood cells is associated with a number of varied clinical manifestations. Chronic non-spherocytic haemolytic anaemia is uncommon but is usually characterized by chronic haemolysis, often with severe anaemia. In the past splenectomy in this condition has been thought to be of questionable benefit. We report a case of G6PD Guadalajara where splenectomy produced transfusion independence and have reviewed the literature. Those cases with exon 10 mutations often have a severe clinical phenotype, which responds to splenectomy. This procedure should be considered in this condition.
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PMID:Glucose-6-phosphate dehydrogenase Guadalajara--a case of chronic non-spherocytic haemolytic anaemia responding to splenectomy and the role of splenectomy in this disorder. 1562 40

Premature triplets (2 boys and 1 girl) were delivered at 34 weeks, with both boys identified as Glucose-6-phosphate dehydrogenase (G6PD) deficient. Despite having similar quantitative levels of G6PD in their cord blood, only one boy had severe hyperbilirubinemia and anaemia caused by acute haemolysis requiring exchange transfusion. G6PD-deficient infants with the similar genetic, demographic, maternal, clinical factors and G6PD quantification levels can have different severity of presentation of neonatal jaundice in similar environmental set up. This supports the massive acute haemolysis can occur in infant with G6PD deficiency in the absence of any obvious blood group incompatibilities, infection, or ingestion of oxidising agents known to trigger haemolysis.
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PMID:Massive acute haemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient preterm triplets. 1748 36

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a typical X-linked enzymopathy causing severe haemolytic anaemia in males, and mild to moderate anaemia in homozygous females. Haemolysis due to G6PD deficiency in patients with type 1 diabetes mellitus (T1DM) has been principally reported in males, but is uncommon. During the last 10 years 2 girls with an unknown incomplete G-6-PD deficiency showed haemolysis during the treatment of DKA at the onset of T1DM. We speculate that the patients here described showed haemolytic anaemia as a phenotypic expression of the lyonization process and/or an uncommon penetrance of the defective gene. Haemolysis occurred when blood glucose levels were returning to normal values. In normal red blood cells, G6PD provides a source of reducing power for maintaining sulphydryl groups (SH) and facilitating the detoxification of free radicals and peroxides. During insulin i.v. infusion the copious glucose available due to the hyperglycaemia progressively decreased and affected the old red blood cells to generate nicotinamide adenine dinucleotide (NADPH), a crucial source for energy-dependent functions. This NADPH loss could have enhanced the rate of all factors such as methaemoglobin generation, Heinz body formation, and lipid peroxidation, which occur in G6PD deficient cells in response to both endogenous and exogenous oxidants. The direct consequence of this phenomenon is an increased erytrocyte oxidant sensitivity and a loss of sulphydryl group availability causing premature red blood cell destruction.
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PMID:Haemolysis during diabetic ketoacidosis treatment in two girls with incomplete glucose-6-phosphate dehydrogenase deficiency. 1970 24


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