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 inactivated rapidly as the affected erythrocytes age.
D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology*; D001793:Blood Preservation; D002675:Child, Preschool; D004592:Electrophoresis, Starch Gel; D004905:Erythrocyte Aging; D014644:Genetic Variation; D005947:Glucose / Q000378:metabolism; D006593:Hexokinase / Q000097:blood* / Q000172:deficiency / Q000235:genetics; D006801:Humans; D008297:Male
D006593:Hexokinase; D005947:Glucose