A Rare Case of Coexistence of Homozygous β-Thalassaemia and Glucose 6 Phosphate Dehydrogenase Deficiency

摘要

β-thalassaemia is one of the most prevalent autosomal disorders worldwide. Mutations/deletions in globin gene underlie deficienciesin Haemoglobin (Hb) production, which can interfere with oxygen delivery by Hb, resulting in thalassaemias causing anaemias witha wide range of disease severity. Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a genetic abnormality resulting ininadequate amount of G6PD in the Red Blood Cells (RBCs). In patients with G6PD deficiency, the reduced or absent activity of theenzyme in RBCs causes premature haemolysis and symptomatic anaemia. The marked oxidative stress caused by homozygousβ-thalassaemia is apparently incompatible with G6PD deficiency. Here, a rare case of six-month-old male child is described whopresented with severe pallor hepato-splenomegaly and these two conditions co-existed in this patient.