Gd(-) Rennes, a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia found in France.
A new variant of G6PD with total enzyme deficiency associated with nonspherocytic hemolytic anemia in a 60 year old Frenchman is characterized. Partially purified enzyme revealed slow electrophoretic mobility, decreased G6P affinity, thermal instability, abnormal pH curve with a single peak at pH 5.0, abnormal utilization of 2-deoxy-G6P and deamino NADP. This variant differs from all previously reported variants associated with chronic nonspherocytic hemolytic anemia. Accordingly this variant is designated Gd(-) Rennes.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D005602:France; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged
D005954:Glucosephosphate Dehydrogenase