G6PD (Dublin): chronic non-spherocytic haemolytic anaemia resulting from glucose-6-phosphate dehydrogenase deficiency in an Irish kindred.
- 1 June 1980
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 17 (3), 191-193
- https://doi.org/10.1136/jmg.17.3.191
Abstract
A new variant of G6PD [glucose-6-phosphate dehydrogenase] associated with chronic non-spherocytic hemolytic anemia (CNSHA) in an Irish male is described. This variant is unique in that it has a normal electrophoretic mobility, km for G6P and NADP, and a normal pH optimum, together with a marked increase in utilization of the substrate 2-deoxyglucose-6-phosphate. It is also relatively heat stable when compared with the normal (B) variant. These characteristics distinguish this variant from previously reported variants associated with CNSHA and it was named G6DP Dublin.This publication has 2 references indexed in Scilit:
- Human glucose‐6‐phosphate dehydrogenase variants: a supplementary tabulationAnnals of Human Genetics, 1978
- Hemolysis in glucose-6-phosphate dehydrogenase deficiency.1972