Should Blood Donors Be Routinely Screened for Glucose-6-Phosphate Dehydrogenase Deficiency? A Systematic Review of Clinical Studies Focusing on Patients Transfused With Glucose-6-Phosphate Dehydrogenase–Deficient Red Cells

This paper describes a Negro family with congenital nonspherocytic hemolytic anemia associated with glucose-6-phosphate dehydrogenase deficiency. All four affected males in this family showed a hemolytic anemia characterized by low hemoglobin, reticulocytosis, and jaundice. There was no detectable G-6-P D in the red cells and about a tenth of normal enzyme activity in the white cells. By starch gel electrophoresis, the G-6-P D was present as a single band which migrated at the rate of 104% of normal. Physico-chemical studies revealed a marked increase of the Michaelis constant for both G-6-P and TPN, a marked lability of the enzyme upon heating at 40°C and 48°C, and a single narrow peak at pH 9.0. Most of these features were similar to those seen in the Oklahoma I variant. Four of the females in the family were studied (two sisters, the mother, and a maternal aunt of the propositus); all showed a lesser degree of anemia and reticulocytosis but no jaundice, except in the mother. There was a decrease of haptoglobins and both the mother and one sister showed a decrease of erythrocyte survival time as measured by chromium-51. The female members had between 11 and 26% of normal G-6-P D activity in the red cells and between 35 and 63% of normal enzyme activity in the white cells. Starch gel electrophoresis in the mother and aunt showed a single band which migrated at 110% of normal with a trail at the position of the affected males. The presence of a milder degree of hemolysis in the heterozygous carriers of the gene for G-6-P D deficiency associated with congenital nonspherocytic hemolytic anemia provides further support for the Lyon hypothesis in man.

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Glucose-6-Phosphate Dehydrogenase Deficiency in Greece

Blood ◽

10.1182/blood.v18.1.34.34 ◽

1961 ◽

Vol 18 (1) ◽

pp. 34-47 ◽

Cited By ~ 29

Author(s):

LEDA ZANNOS-MARIOLEA ◽

CHRISTOS KATTAMIS

Keyword(s):

Individual Differences ◽

Dehydrogenase Deficiency ◽

Normal Limit ◽

Red Cells ◽

Female Patients ◽

Male Patients ◽

Stability Method ◽

Fava Beans ◽

Glucose 6 Phosphate Dehydrogenase ◽

Genetic Hypothesis

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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