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.
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.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000201:enzymology*; D006801:Humans; D008297:Male; D009154:Mutation; D012867:Skin / Q000166:cytology
D005954:Glucosephosphate Dehydrogenase