HEREDITARY NON-SPHEROCYTIC HEMOLYTIC-ANEMIA AND HEXOKINASE DEFICIENCY

  • 1 January 1978
    • journal article
    • research article
    • Vol. 51  (5) , 935-956
Abstract
An 11 yr old child with mild chronic hemolytic anemia had decreased red cell hexokinase activity in spite of the reduced mean age of her red cell population. Similar decreases in red cell hexokinase activity were documented in the patient''s parents and in 1 sib. The red cells were morphologically normal. Red cell 2,3-DPG [2,3-diphosphoglycerate] levels were normal and ATP and G-6-P levels were diminished. The kinetic properties, electrophoretic mobility and thermal stability of the residual red cell hexokinase were normal or nearly so. Glucose consumption of the hexokinase-deficient cells was not appreciably decreased, probably because less of the potent inhibitor G-6-P was present in the erythrocytes. In this patient nonspherocytic hemolytic anemia may have resulted from hexokinase deficiency.

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