Case report: Pyruvate kinase deficiency in an infant
Department of pediatrics, SSIMS and RC Davangere, India.
Case Study
World Journal of Advanced Research and Reviews, 2023, 18(03), 1060–1062
Article DOI: 10.30574/wjarr.2023.18.3.0439
Publication history:
Received on 15 February 2023, revised on 16 June 2023, accepted on 18 June 2023
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.
Keywords:
Non-spherocytic Hemolytic anemia; Red cell Pyruvate Kinase; Deficiency; Human geneticists
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