Diagnosis and treatment status of hereditary pyruvate kinase deficiency

Abstract

Hereditary pyruvate kinase deficiency (PKD) is a disease that resulted from the mutation of pyruvate kinase liver and red blood cell (PKLR) gene and transmitted as an autosomal recessive trait with homozygotes and compound heterozygotes. The PKLR gene located on chromosome 1q21, and over 200 mutations have been described. Nonspheroeytic hemolytic anemia(HNHA) can be resulted from PKD. In this artical, we reviewed the current status of diagnosis and treatment of PKD. Key words: Pyruvate kinase; Deficiency diseases; Diagnosis