NEW GLUCOSE-6-PHOSPHATE-DEHYDROGENASE MUTATIONS ASSOCIATED WITH CHRONIC ANEMIA

We have identified the glucose-6-phosphate dehydrogenase mutations res ponsible for enzyme deficiency in nine individuals with chronic nonsph erocytic hemolytic anemia. We found the variants Tokyo, Iowa, Shinshu, and Guadalajara in British subjects and Kobe in an Italian. In additi on we have determined the variant Corum has the mutation 820 G --> A a nd have found in British subjects the mis-sense mutations 224 T --> C, 488 G --> A and 833 C --> T which have not been described before. Som e, but not all, of the mutations involve amino acids located near puta tive substrate binding sites. (C) 1995 by The American Society of Hema tology.