Two new variants of glucose-6-phosphate dehydrogenase associated with hereditary non-spherocytic hemolytic anemia: G6PD Wayne and G6PD Huron.
Two new deficient variants of glucose-6-phosphate dehydrogenase (G6PD) causing hereditary nonspherocytic hemolytic anemia (HNSHA) are described. Both of these are unique and they have been named G6PD Wayne and G6PD Huron. Patients with G6PD Wayne underwent splenectomy and no objective improvement was noted. The patients with G6PD Huron were under medical observation for a considerable period of time without the diagnosis of G6PD deficiency being entertained because the family was of Northern European origin. Since sporadic variants of G6PD causing HNSHA show no special racial predilection, the diagnosis of G6PD deficiency should always be considered in patients with this syndrome.
D000293:Adolescent; D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology*; D005060:Europe; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000145:classification / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology; D006801:Humans; D007527:Isoenzymes / Q000097:blood / Q000235:genetics*; D008297:Male
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase