Pyruvate kinase deficiency: A rare cause of hemolytic anemia: A case report from North-Eastern India

Abstract

Pyruvate kinase, liver and RBC (PKLR) gene located on chromosome 1q21 encodes erythrocyte pyruvate kinase enzyme. Pyruvate kinase conveys the concluding tread of the glycolytic pathway, along with production of the 50% red cell total adenosine triphosphate. Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disorder causing congenital non-spherocytic hemolytic anemia (CNSH). Biallelic pathogenic variation in the PKLR gene is responsible for PKD. It is the most common glycolytic defect resulting in CNSH. This case report highlights different pathogenic variants in PKLR gene detected in a patient having severe PKD.