G6PD Varadero. A new variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.
A glucose-6-phosphate dehydrogenase (G6PD) variant was studied in a mulatto patient with chronic nonspherocytic hemolytic anemia. This variant has reduced activity, increased thermolability, a reduced Michaelis constant for glucose-6-phosphate, slightly increased electrophoretic mobility, a biphasic pH activity profile, high 2-deoxyglucose-6-phosphate utilization, normal diamino nicotinamide adenine dinucleotide phosphate utilization and a peak of elution profile after G6PD B. The electrophoretic, kinetic, and chromatographic properties of this erythrocyte G6PD variant allow the conclusion that G6PD Varadero is probably a new variant.
D000745:Anemia, Hemolytic, Congenital / Q000097:blood*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood* / Q000453:epidemiology / Q000235:genetics; D002675:Child, Preschool; D003462:Cuba; D004592:Electrophoresis, Starch Gel; D005954:Glucosephosphate Dehydrogenase / Q000097:blood* / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D009249:NADP / Q000097:blood
D009249:NADP; D005954:Glucosephosphate Dehydrogenase