GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DURHAM - A DE-NOVO MUTATION ASSOCIATED WITH CHRONIC HEMOLYTIC-ANEMIA

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-link ed enzyme defect. We report a new variant, G6PD Durham(713G), that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durh am(713G) variant has a unique biochemical and enzymatic profile and a novel A-->G substitution mutation at nucleotide 713, changing lysine t o arginine at amino acid 238. This mutation was not found in the mothe r of our patient, indicating that G6PD Durham(713G) resulted from a de novo mutation.