Clinical and Biochemical Studies on Hereditary Erythrocyte Pyruvate Kinase Deficiency Associated with Chronic Hemolytic Anemia

Clinical and biochemical studies on herediatary erythrocyte pyruvate kinase deficiency (20 homozygotes) associated with chronic hemolytic anemia were performed. Analyses of abnormal PKs were performed according to the International Committee for Standardization in Haematoloy (ICSH) recommended (7 cases) whole parents were consanguineous and the other group consists of double heterozygotes (13 cases) whole parents were not consanguineous. There is no difference as to the onset age, clinical symptoms, the level of anemia and half-life of erythrocytes between true homozygous group and double heterozygous group…