1996•Human MutationRequires access
Mutations in pyruvate kinase
Ernest Beutler, Luciano Baronciani
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Abstract
Pyruvate kinase (PK) deficiency due to mutations of the PKLR gene is a common cause of hereditary nonspherocytic hemolytic anemia. Thus far, 55 different mutations have been described in patients with PK-deficient hemolytic anemia. Polymorphisms within the PKLR gene and in the tightly linked glucocerebrosidase (GBA) gene suggest that PK deficiency may represent a balanced polymorphism. © 1996 Wiley-Liss, Inc.