Extreme Hemolysis and Red-Cell Distortion in Erythrocyte Pyruvate Kinase Deficiency

Abstract

BIZARRE morphologic abnormalities of the erythrocytes are generally not considered a prominent feature of congenital nonspherocytic hemolytic anemias.1 , 2 We have observed a child with a severe congenital nonspherocytic hemolytic anemia associated with a deficiency of erythrocyte pyruvate kinase in whom morphologic abnormalities of the red cells were profound. The bizarre red-cell abnormality was in some respects similar to that observed in the syndrome of acanthocytosis associated with absence of serum beta-lipoprotein.3 Of additional interest was the finding that the mother of the patient was not only a heterozygote for the pyruvate kinase (PK) deficiency but was also a carrier of . . .