Study of glucose-6-phosphate dehydrogenese (G6PD) gene mutations in patients with G6PD deficiency of Fars and Esfahan provinces

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The aim of this study was the molecular analysis of common G6PD mutations, including Mediterranean, Chatham, Cosenza and A-(G202A/A367G) in the patient with favism in Fars and Esfahan provinces. In this basic study, 96 non-relative patients with G6PD deficiency (34 from Fars and 62 from Esfahan province) were studied. Genomic DNA was analyzed by PCR-RFLP and product electrophoresis method for known mutations such as Mediterranean(C-T)nt, Chatham, Cosenza and A202(G-A)/367(A-G) mutation. Of 96 samples, 79 (82.3%) and 8 (8.3%) had G6PD Mediterranean and G6PD Chatham, respectively. None of the samples had Cosenza and A-(G202A/A367G) mutation. This study showed that G6PD Mediterranean is the most prevalent mutation in Iran.