Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant

Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant

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 inac...

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Bibliographic Details
Published in:Blood Vol. 51; no. 1; pp. 111 - 118
Main Authors: Board, PG, Trueworthy, R, Smith, JE, Moore, K
Format: Journal Article
Language:English
Published: 01-01-1978
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Summary: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.
ISSN:0006-4971
1528-0020
DOI:10.1182/blood.V51.1.111.bloodjournal511111