Case report: Pyruvate kinase deficiency in an infant

Abstract

Pyruvate kinase deficiency is a rare cause of hemolytic anaemia. We report a case of Non-spherocytic hemolytic anaemia due to a deficiency of the red cell Pyruvate kinase enzyme due to a homozygous type of autosomal recessive inheritance. The child underwent a double volume Exchange Transfusion and received blood transfusions for Rapid Hemolysis on the first day of life. In this report, we stress the need for consideration of Red cell Pyruvate kinase enzyme deficiency as one of the differentials of Non-immune hemolytic anaemia. The study will help human geneticists and paediatricians with early identification or screening.