Homozygous ?- thalassemia with Glucose 6 phosphate dehydrogenase deficiency: A case report

The thalassemias and glucose 6 phosphate dehydrogenase deficiency are among the most common disorders worldwide. The marked oxidative stress caused by ?-thalassemia, that is apparently incompatible with glucose 6 phosphate dehydrogenase deficiency was seen in a rare case report in which these two disorders co-existed. A6 month old baby boy presented in Hematology OPD with a complaint of failure to thrive and required frequent blood transfusions. He had received 3 blood transfusions till date and had the following hematologic data; Hb 3.8 g/dL, Hct 14.1 %, MCV 75.0 fL, MCH 20.2 pg and MCHC 27.0 g/dL. Hemoglobin analysis revealed 96% HbF and HbA2 3.1 %, his screening for glucose6 phosphate dehydrogenase enzyme showed a deficient enzyme activity. His parental study was done which revealed heterozygous ?-thalassemia in both father and mother , while glucose 6 phosphate dehydrogenase screening showed a normal activity in father and a deficient activity in mother.