G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia
- 1 September 1982
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 61 (2) , 175-176
- https://doi.org/10.1007/bf00274214
Abstract
This paper describes a new G-6-PD variant designated Guadalajara, which was found in a Mexican boy suffering from chronic hemolytic anemia. The red cell enzyme activity of the subject is about 14%. The mutant enzyme showed rapid electrophoretic mobility, slightly increased affinity for glucose-6-phosphate, slightly decreased affinity for NADP+, moderately elevated utilization of substrate analogues, and normal heat stability, pH curve, and inhibition by NADPH. G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in Mexico.Keywords
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