Glucose-6-phosphate dehydrogenase Durham: a de novo mutation associated with chronic hemolytic anemia.
case_report · Level V
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Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham713G, that is associated with chronic nonspherocytic hemolytic anemia. The G6PD Durham713G variant has a unique biochemical and enzymatic profile and a novel A-->G substitution mutation at nucleotide 713, changing lysine to arginine at amino acid 238. This mutation was not found in the mother of our patient, indicating that G6PD Durham713G resulted from a de novo mutation.
Medical subject headings
- Anemia, Hemolytic, Congenital Nonspherocytic
- Glucosephosphate Dehydrogenase
- Point Mutation