Acute hemolysis in glutathione peroxidase deficiency.
Severe acute hemoglobinemia and hemoglobinuria developed in a 17-year-old Japanese male with no history of exposure to any oxidizing agents. Examination of erythrocyte enzyme activity revealed that the patient's erythrocyte glutathione peroxidase (GSH-Px) activity was decreased to about a half that in control cells. Serum selenium (Se) concentration was within normal limits. Family studies showed that GSH-Px activity in the erythrocytes of two siblings was similarly decreased. It was suggested that the proband was suffering from a hereditary heterozygous GSH-Px deficiency, which appeared to be associated with acute hemolysis.
Gondo
H
H
Division of Internal Medicine, Sanshinkai Hara Hospital, Fukuoka, Japan.
Ideguchi
H
H
Hayashi
S
S
Shibuya
T
T
D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005979:Glutathione Peroxidase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D006242:Haptoglobins / Q000172:deficiency; D006456:Hemoglobinuria / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D006461:Hemolysis; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010084:Oxidation-Reduction; D010375:Pedigree
D006242:Haptoglobins; D005979:Glutathione Peroxidase