Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant
Open Access
- 1 January 1978
- journal article
- Published by American Society of Hematology in Blood
- Vol. 51 (1) , 111-118
- https://doi.org/10.1182/blood.v51.1.111.111
Abstract
We report a family with a new hexokinase variant that gives rise to nonspherocytic hemolytic anemia in one apparently homozygous family member. The variant enzyme has a normal pH optimum, normal reaction kinetics, and normal electrophoretic properties, but has reduced activity and is apparently inactivated rapidly as the affected erythrocytes age.Keywords
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