Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002878 (hemolytic anemia)
 7,530 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two new inheritable variants of glucose-6-phosphate dehydrogenase have been found in two unrelated German families. Patients with one variant (G6PD Iserlohn, also referred to as G6PD I) suffered from intermittent hemolytic crises caused by fava beans; patients with the other variant (G6PD Regensburg, G6PD II) disclosed chronic nonspherocytic hemolytic anemia aggravated by drug treatment. Due to their unusual biochemical characteristics, the new variants were designated G6PD Iserlohn and G6PD Regensburg. Both variants showed a reduction of enzyme activity to about 6% of the normal in erythrocytes, normal electrophoretic mobility, increased affinity for glucose-6-phosphate, a reduced affinity for NADP and a pH optimum in the neutral region (7.0 and 7.5). G6PD Iserlohn had a decreased affinity for the inhibitor NADPH; G6PD Regensburg had a normal inhibitor constant. Deamino NADP was utilized at an increased rate by G6PD Regensburg. G6PD Iserlohn was thermostable, G6PD Regensburg mildly instable. G6PD activity in leukocytes was normal in G6PD Iserlohn and reduced to the same degree as in erythrocytets in G6PD Regensburg. The cause of the decreased activity of G6PD Iserlohn appears to be in vivo instability; in G6PD Regensburg further mechanisms might include reduced specific activity or reduced synthesis of the variant enzyme.
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PMID:Glucose-6-phosphate dehydrogenase (G6PD) Iserlohn and G6PD Regensburg: two new severe enzyme defects in German families. 384 16

Partial deficiency of 6-phosphogluconolactonase (EC 3.1.1.31) of the erythrocytes was discovered as an autosomal dominant disorder. Hemolytic anemia occurred in an individual who had inherited both the gene for 6-phosphogluconolactonase deficiency and that for deficiency of a nonhemolytic variant of glucose-6-phosphate dehydrogenase (EC 1.1.1.49). It is proposed that the interaction of this hereditary erythrocyte abnormality with glucose-6-phosphate dehydrogenase deficiency may explain hemolysis in some other patients who have inherited polymorphic variants of glucose-6-phosphate dehydrogenase.
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PMID:6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency. 385 49

We present a young man with Mediterranean type glucose-6-phosphate dehydrogenase (G6PD) deficiency and insulin-dependent diabetes mellitus whose brittle course was characterized by recurrent bouts of hypoglycemia and diabetic ketoacidosis (DKA). While neither of the episodes of DKA was complicated by hemolysis, hemolytic anemia consistently followed the recurrent attacks of hypoglycemia. Stringent control of the patient's blood glucose levels in the upper limit and slightly above the normal range successfully prevented recurrence of hypoglycemia and recrudescence of hemolytic anemia. Hypoglycemia is proposed as capable of inducing hemolysis in G6PD deficiency.
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PMID:Hypoglycemia-induced hemolysis in glucose-6-phosphate dehydrogenase deficiency. 393 66

A young Zulu man was admitted for investigation of anaemia, jaundice and fever. He had a haemolytic anaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and typhoid fever. Reports on haemolysis as a complication of typhoid fever in patients with G6PD deficiency are exceedingly rare in countries where the gene frequency of G6PD deficiency is low.
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PMID:Typhoid fever and haemolytic anaemia in a black patient with glucose-6-phosphate dehydrogenase deficiency. A case report. 401 99

A 52 yr old Caucasian female (F. E.) had hemolytic anemia, a leukemoid reaction, and fatal sepsis due to Escherichia coli. Her leukocytes ingested bacteria normally but did not kill catalase positive Staphylococcus aureus, Escherichia coli, and Serratia marcescens. An H(2)O(2)-producing bacterium, Streptococcus faecalis, was killed normally. Granule myeloperoxidase, acid and alkaline phosphatase, and beta glucuronidase activities were normal, and these enzymes shifted normally to the phagocyte vacuole (light and electron microscopy). Intravacuolar reduction of nitroblue tetrazolium did not occur. Moreover, only minimal quantities of H(2)O(2) were generated, and the hexose monophosphate shunt (HMPS) was not stimulated during phagocytosis. These observations suggested the diagnosis of chronic granulomatous disease. However, in contrast to control and chronic granulomatous disease leukocytes, glucose-6-phosphate dehydrogenase activity was completely absent in F. E. leukocytes whereas NADH oxidase and NADPH oxidase activities were both normal. Unlike chronic granulomatous disease, methylene blue did not stimulate the hexose monophosphate shunt in F. E. cells. Thus, F. E. and chronic granulomatous disease leukocytes appear to share certain metabolic and bactericidal defects, but the metabolic basis of the abnormality differs. Chronic granulomatous disease cells lack oxidase activity which produces H(2)O(2); F. E. cells had normal levels of oxidase activity but failed to produce NADPH due to complete glucose-6-phosphate dehydrogenase deficiency. These data indicate that a complete absence of leukocyte glucose-6-phosphate dehydrogenase with defective hexose monophosphate shunt activity is associated with low H(2)O(2) production and inadequate bactericidal activity, and further suggest an important role for NADPH in the production of H(2)O(2) in human granulocytes.
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PMID:Complete deficiency of leukocyte glucose-6-phosphate dehydrogenase with defective bactericidal activity. 440 Dec 71

Patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency of red blood cells (RBC) may develop sudden hemolytic anemia during infection. Since phagocytizing polymorphonuclear leukocytes (PMN) are known to generate hydrogen peroxide, we explored the influence of this oxidant product of PMN on juxtaposed G6PD-deficient and normal RBC. The oxidant stress induced by phagocytosis depleted G6PD-deficient RBC of reduced glutathione (GSH) and this was associated with rapid removal of these cells from the circulation by the liver and spleen. No such effect was observed on normal RBC. Phagocytizing chronic granulomatous disease (CGD) PMN which lack hydrogen peroxide generation, failed to diminish GSH level in G6PD-deficient RBC. Thus, PMN can pose as a source of oxidant damage to G6PD-deficient RBC due to hydrogen peroxide generated during phagocytosis.
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PMID:Oxidant injury of caucasian glucose-6-phosphate dehydrogenase-deficient red blood cells by phagocytosing leukocytes during infection. 512 1

A family with congenital non-spherocytic hemolytic anemia associated with glucose-6-phosphate dehydrogenase (G6PD) deficiency was studied. Two females, heterozygous for the enzyme deficency, had evidence of a hemolytic anemia. The results of chromium-51 erythrocyte life span studies prior to, during, and after periods of primaquine administration suggested that the hemolytic anemia in these women was due to the presence of two populations of red blood cells in their circulation. One population had normal G6PD levels and a normal life span, whereas the other had diminished enzyme activity and a shortened life span.In vitro metabolic studies of the erythrocytes of a heterozygous female and a hemizygous male suggested that, in spite of G6PD deficiency, the synthesis and breakdown of adenosine triphosphate and 2,3-diphosphoglyceric acid was similar to that in normal erythrocytes.
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PMID:Congenital non-spherocytic hemolytic anemia. 532 Sep 18

Two Finnish variants of reduced erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) activity were studied. The G-6-PD Espoo variant is characterized by severe enzyme deficiency which is normally non-haemolytic although primaquine sensitive. The other variant, G-6-PD Helsinki, in which the enzyme activity is moderately reduced, is associated with chronic haemolytic anaemia. The activity of the pentose phosphate pathway was not stimulated by methylene blue in G-6-PD Espoo cells, whereas in normal and G-6-PD Helsinki cells there were increases in shunt activity of 64.5- and 5.3-fold, respectively. As judged by the accumulation of 6-phosphogluconate after incubation with 6-aminonicotinamide, the activity of the pentose phosphate pathway was similar in normal and G-6-PD Helsinki cells, whereas in G-6-PD Espoo cells the metabolic flux through this pathway was decreased. Quantities of sulphydryl groups in intact cells and isolated membranes were similar in normal and G-6-PD deficient cells, as revealed by spin label experiments. In contrast to the situation in normal cells, sulphydryl groups in G-6-PD Espoo cells, and to a lesser extent in G-6-PD Helsinki cells, were sensitive to oxidation by acetylphenylhydrazine. In the G-6-PD Helsinki cells, but not in the G-6-PD Espoo cells, membrane fluidity was increased, as judged from the increased mobility of the stearic acid spin label. Mechanisms are discussed by which G-6-PD deficient cells retain adequate levels of NADPH during resting conditions, and it is suggested that the chronic haemolysis associated with G-6-PD Helsinki could be due to a defect in the lipid region of the cell membrane.
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PMID:Membrane characteristics and metabolic properties of glucose-6-phosphate dehydrogenase deficient red cells. 625 45

A propositus, the offspring of a first-cousin marriage, was presented with severe hemolytic anemia, splenomegaly, jaundice, and growth retardation. Marked basophilic stippling of erythrocytes was shown by Wright's stain. Erythrocyte 5'-nucleotidase activity was found markedly decreased, whereas red blood cell glucose-6-phosphate dehydrogenase activity was elevated as the reduced glutathione level. His growth and anemia improved following splenectomy. His sister was also similarly affected.
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PMID:A case of hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency. 627 Sep 45

Diabetic ketoacidosis is traditionally stated as being capable of precipitating haemolysis in patients deficient in glucose-6-phosphate dehydrogenase (G6PD). This, however, is based on only a few case reports with inadequate documentation. A study was therefore conducted to review the subject in people with the Mediterranean variant of G6PD deficiency. Perusal of the medical records for the years 1970-82 yielded 15 patients with G6PD deficiency who had been admitted to hospital for a total of 36 episodes of diabetic ketoacidosis. Ten of these episodes had been complicated by haemolytic anaemia, but in every one there was unequivocal evidence of either concurrent bacterial infection or inadvertent ingestion of drugs, either of which might induce haemolysis in G6PD deficient patients. In the remaining 26 episodes there was no evidence of developing or established haemolytic anaemia. From these findings diabetic ketoacidosis should not be regarded as a risk factor for haemolysis in the Mediterranean variant of G6PD deficiency.
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PMID:Diabetic ketoacidosis does not precipitate haemolysis in patients with the Mediterranean variant of glucose-6-phosphate dehydrogenase deficiency. 641 46


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