IDENTIFICATION OF MUTATIONS IN G6PD GENE IN PATIENTS IN HORMOZGAN PROVINCE OF IRAN

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cell in human affecting more than 400 million people worldwide. G6PD is the key regulatory enzyme in the hexose monophosphate shunt (HMS) catalase the oxidation of glucose-6-phosphate (G6PD) to 6-phospho gluconolacton and the production of reducing equivalents in the form of NADPH to meet the cellular redox state and its deficiency cause hemolytic anemia , Favism and Neonatal jaundice. In this paper we have analyzed the G6PD gene in 73 patients with history of favism. The extracted DNA was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) for known G6PD mutations including Mediterranean, Chatham and Cosenza. The results determined that, from the total 73 samples, 58 had G6PD Mediterranean (79.45%), 9 had G6PD Cosenza (12.33%) and 6 had G6PD Chatham (8.21%) while the frequency of G6PD Mediterranean in the state of Hormozgan was almost the same as in the state of Sistan and Balochestan (80.42%), the frequency of the other two mutations were significantly different in these two states. The significance of differences among these and other states by which we reported previously are discussed. G6PD Mediterranean was the most prevalent mutation in Iran and other countries in tropical and subtropical areas. In this paper we also try to document the commonly known mutations in patients with G6PD deficiency, with a history of favism.