Blood Journal
Leading the way in experimental and clinical research in hematology

Congenital nonspherocytic hemolytic anemia with an unstable hexokinase variant

  1. PG Board,
  2. R Trueworthy,
  3. JE Smith, and
  4. K Moore

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.