G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia.
This paper describes a new G-6-PD variant designated Guadalajara, which was found in a Mexican boy suffering from chronic hemolytic anemia. The red cell enzyme activity of the subject is about 14%. The mutant enzyme showed rapid electrophoretic mobility, slightly increased affinity for glucose-6-phosphate, slightly decreased affinity for NADP+, moderately elevated utilization of substrate analogues, and normal heat stability, pH curve, and inhibition by NADPH. G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in Mexico.
D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology* / Q000235:genetics; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D006801:Humans; D008297:Male; D008800:Mexico; D009154:Mutation
D005954:Glucosephosphate Dehydrogenase