Glucose-6-Phosphate Dehydrogenase Deficiency in Male Patients with Mediterranean Spotted Fever in Sardinia

Abstract The glutathione stability of red cells was estimated in 40 patients during acute hemolysis induced by fava beans. There were wide individual differences but in all cases except one (Case 18) the post-incubation GSH fell to levels below 40 mg. per cent packed RBC which is the lower normal limit. The GSH stability on 44 mothers and 37 fathers gave results consistent with the genetic hypothesis that in male patients the mother is the carrier of the biochemical defect, while in female patients both parents are carriers, since, as a rule, only female homozygotes suffer from hemolytic episodes. However, in only 77.7 per cent of the mothers could the biochemical defect be proved by this method. The Motulsky test was performed in 30 of the 40 patients. It gave abnormal decolorization times in 25 or 83 per cent of the cases. This test is therefore valuable for diagnosing "sensitivity" during a hemolytic episode; it is, nevertheless, less sensitive than the GSH stability method. The Motulsky test was also performed on 31 mothers, 18 fathers and 8 siblings. It proved to be unreliable in the detection of female heterozygotes. G-6-PD deficiency is widely disseminated in Greece; it is, however, not evenly distributed throughout the country. The highest frequency of G-6-PD deficiency found so far in males was about 3 per cent; the lowest was 0.7 per cent.

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Clinical Implications of Sickle-Cell Trait and Glucose-6-Phosphate Dehydrogenase Deficiency in Hospitalized Black Male Patients

New England Journal of Medicine ◽

10.1056/nejm197905033001801 ◽

1979 ◽

Vol 300 (18) ◽

pp. 1001-1005 ◽

Cited By ~ 106

Author(s):

Paul Heller ◽

William R. Best ◽

Rodney B. Nelson ◽

Jack Becktel

Keyword(s):

Sickle Cell ◽

Black Male ◽

Dehydrogenase Deficiency ◽

Sickle Cell Trait ◽

Clinical Implications ◽

Male Patients ◽

Glucose 6 Phosphate Dehydrogenase

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Glucose 6-phosphate dehydrogenase deficiency and sickle cell anemia: frequency and features of the association in an African community

Blood ◽

10.1182/blood.v46.4.591.591 ◽

1975 ◽

Vol 46 (4) ◽

pp. 591-597 ◽

Cited By ~ 30

Author(s):

U Bienzle ◽

O Sodeinde ◽

CE Effiong ◽

L Luzzatto

Keyword(s):

Sickle Cell ◽

Sickle Cell Anemia ◽

Dehydrogenase Deficiency ◽

Clinical Course ◽

Normal Subjects ◽

Starch Gel Electrophoresis ◽

African Community ◽

Starch Gel ◽

Male Patients ◽

Glucose 6 Phosphate Dehydrogenase

Abstract The glucose 6-phosphate dehydrogenase (G6PD) genotype was determined in 100 male patients with homozygous sickle cell anemia (SS) by a combination of quantitative assay, cytochemical testing, and starch-gel electrophoresis. Of the 100 patients tested, 16 were found to be G6PD deficient (GdA-), AND 84 G6PD normal (22GsA and 62 GdB). This distribution of G6PD genotypes did not differ significantly from that observed in the general population. The level of G6PD activity in GdA- SS patients was nearly always higher than in G6PD-deficient subjects who did not have an associated hemolytic state, but it was nearly always lower than in G6PD-normal subjects. The clinical course of sickle cell disease, including the degree of anemia, was not milder in GdA- than in G6PD-normal patients but could not be proved to be significantly more severe. It was concluded that in this community the incidence of G6PD deficiency in sickle cell anemia was not greater than would be expected by chance, and there was no evidence that the coexistence of the GdA- gene in SS patients ameliorated their disease.

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Is Glucose-6-Phosphate Dehydrogenase Deficiency a Risk Factor for Proliferative Diabetic Retinopathy in Male Patients with Type 1 Diabetes Mellitus in Basrah?

Journal of Medical Science And clinical Research ◽

10.18535/jmscr/v5i1.07 ◽

2017 ◽

Vol 05 (01) ◽

pp. 15173-15179

Author(s):

Hussein Ali Nwayyir MD ◽

Keyword(s):

Diabetes Mellitus ◽

Type 1 Diabetes ◽

Diabetic Retinopathy ◽

Risk Factor ◽

Type 1 Diabetes Mellitus ◽

Proliferative Diabetic Retinopathy ◽

Dehydrogenase Deficiency ◽

Male Patients ◽

Glucose 6 Phosphate Dehydrogenase

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Glucose 6-phosphate dehydrogenase deficiency and sickle cell anemia: frequency and features of the association in an African community

Blood ◽

10.1182/blood.v46.4.591.bloodjournal464591 ◽

1975 ◽

Vol 46 (4) ◽

pp. 591-597

Author(s):

U Bienzle ◽

O Sodeinde ◽

CE Effiong ◽

L Luzzatto

Keyword(s):

Sickle Cell ◽

Sickle Cell Anemia ◽

Dehydrogenase Deficiency ◽

Clinical Course ◽

Normal Subjects ◽

Starch Gel Electrophoresis ◽

African Community ◽

Starch Gel ◽

Male Patients ◽

Glucose 6 Phosphate Dehydrogenase

The glucose 6-phosphate dehydrogenase (G6PD) genotype was determined in 100 male patients with homozygous sickle cell anemia (SS) by a combination of quantitative assay, cytochemical testing, and starch-gel electrophoresis. Of the 100 patients tested, 16 were found to be G6PD deficient (GdA-), AND 84 G6PD normal (22GsA and 62 GdB). This distribution of G6PD genotypes did not differ significantly from that observed in the general population. The level of G6PD activity in GdA- SS patients was nearly always higher than in G6PD-deficient subjects who did not have an associated hemolytic state, but it was nearly always lower than in G6PD-normal subjects. The clinical course of sickle cell disease, including the degree of anemia, was not milder in GdA- than in G6PD-normal patients but could not be proved to be significantly more severe. It was concluded that in this community the incidence of G6PD deficiency in sickle cell anemia was not greater than would be expected by chance, and there was no evidence that the coexistence of the GdA- gene in SS patients ameliorated their disease.

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Porphyrin metabolism in secondary hepatic porphyria in patients with hereditary deficiency of glucose-6-phosphate dehydrogenase

Kazan medical journal ◽

10.17816/kmj1865 ◽

2012 ◽

Vol 93 (3) ◽

pp. 451-455

Author(s):

D A Baytaeva ◽

S S Bessmel’tsev

Keyword(s):

Quantitative Methods ◽

Dehydrogenase Deficiency ◽

Early Stage ◽

Diagnostic Feature ◽

High Concentration ◽

Qualitative And Quantitative Methods ◽

Porphyrin Metabolism ◽

Endogenous Intoxication ◽

Male Patients ◽

Glucose 6 Phosphate Dehydrogenase

Aim. The study the porphyrin metabolism during the development of secondary hepatic porphyria in patients with glucose-6-phosphate dehydrogenase deficiency. Methods. Examined were 148 male patients aged 5-19 years (median 12 years) with impaired activity of glucose-6-phosphate dehydrogenase in combination with β-thalassemia and without it. Qualitative and quantitative methods of examining the activity of this enzyme were used in order to verify the diagnosis. Taking into account the varying degree of glucose-6-phosphate dehydrogenase deficiency, the indices of metabolism of the enzyme and of the porphyrins were correlated with the severity of anemia, functional liver capacities, with parameters reflecting iron content in blood serum, bone marrow, liver and urine. The markers of intoxication were also taken into account in the development of secondary hepatic porphyria and endotoxemia. Therapeutic plasmapheresis was used to correct the revealed disorders. Results. The influence of glucose-6-phosphate dehydrogenase deficiency on the metabolism of porphyrins and liver functional status has been shown, which leads to the development of anemia and endogenous intoxication. With the help of parameters, which characterize the porphyrin metabolism in patients, secondary hepatic porphyria was revealed. It was established that determination of the content of glucose-6-phosphate dehydrogenase and porphyrins makes it possible to detect disturbances in heme synthesis at an early stage and to evaluate the compensatory abilities of the liver. An important diagnostic feature for glucose-6-phosphate dehydrogenase deficiency, regardless of severity, is the impaired synthesis of the end products of metabolism of porphyrins - uro-, copro- and protoporphyrin. The effectiveness of therapeutic plasmapheresis for hemolysis, secondary hepatic porphyria and endogenous intoxication has been shown. Conclusion. Increased excretion of uro-and coproporphyrin with urine reflects the severity of endotoxemia, and is an alternative to markers of intoxication; high concentration of free protoporphyrin and low concentration of uro- and coproporphyrin in erythrocytes is an important diagnostic sign of impaired activity of glucose-6-phosphate dehydrogenase in patients.

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