Electrophoretic and Kinetic Studies of Mutant Erythrocyte Pyruvate Kinases

Thin-layer polyacrylamide electrophoresis and kinetic studies were used to differentiate three different mutant erythrocyte pyruvate kinase (PK) in congenital nonspherocytic hemolytic anemia. In the first family, proband and father had PK which migrated faster than the normal and high Michaelis—Menten constants (Km), whereas mother had normal migration and kinetics, but low PK activity. In the second family, proband and mother had PK which migrated slower than the normal. Proband had markedly high Km and mother intermediately high Km. In the third family, proband and mother had faster migrating PK than the normal. Proband had high Km and mother had intermediately high Km. The parents in the second and third families were consanguineous. Inherited molecular abnormalities of erythrocyte PK were proven to exist by abnormal electrophoretic mobilities, as well as abnormal results of kinetic studies.