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One day old male baby who was born to second degree consanguneous parents had anemia and splenomegaly on day 01. The mother has bad obstetric history.  First baby was a male child had intrauterine death at 9 months. Second baby was a female child had jaundice on day 02 and seizure on day 03 and died at day 07. Third is a female child, 3 years old who has transfusion dependent anemia and diagnosed to have Pyruvate kinase deficiency(PKD) . This baby, on examination was found to have splenomegaly (1.5 cm below left costal margin). Investigation showed hemoglobin 10.5gm/dl with reticulocyte count 32.2%. Peripheral smear showed anisocytosis++, target cells+, polychromasia+++  and prickle  cells+.  Liver function test revealed indirect hyperbilirubinemia. G6PDH levels were  29.6U/g Hb. Heinz body test was positive.  Next generation sequencing showed compound heterozygous mutation in PKLR gene.

Pyruvate kinase deficiency is an autosomal recessive condition caused by mutations in the PKLR gene. It is the most common glycolytic defect causing congenital non‐spherocytic hemolytic anemia.  The pyruvate kinase enzyme is involved in a critical energy-producing process in glycolysis. PKLR gene mutations result in reduced pyruvate kinase enzyme function, causing a shortage of ATP in red blood cells and increased levels of other molecules produced earlier in the glycolysis process. The abnormal red blood cells are entrapped  by the spleen and destroyed, causing hemolytic anemia and an enlarged spleen.