GLUOSE 6-PHOSPHATE ISOMERASE DEFICIENCY: A RARE ENTITY

A young male presented to us with the chief complaints of jaundice, non-bilious vomiting and intermittent high-grade fever in the background of past history of recurrent blood transfusions.On examination, he had pallor, icterus with a massive non tender splenomegaly and his laboratory parameters were suggestive of indirect hyperbilirubinemia with low haptoglobin and elevated lactate dehydrogenase levels with reticulocytosis and erythroid hyperplasia on bone marrow aspiration. His Direct and indirect coombs test were negative.To rule out hemoglobinopathies, his hemoglobin electrophoresis was sent, which turned out to be normal. Hence, red blood cell membrane and enzyme studies were carried out which revealed Glucose-6-phosphate isomerase deficiency.