CONGENITAL NON-SPHEROCYTIC HEMOLYTIC-ANEMIA WITH AN UNSTABLE HEXOKINASE VARIANT

  • 1 January 1978
    • journal article
    • research article
    • Vol. 51  (1) , 111-118
Abstract
A family with a new hexokinase variant that gives rise to nonspherocytic hemolytic anemia in 1 apparently homozygous family member is reported. 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.

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