Glucose-6-phosphate dehydrogenase deficiency: A review of performed studies in Iran

Glucose-6-phosphate dehydrogenase enzyme deficiency is one of the most frequent human genetic disorders so that more than 400 million people are affected worldwide. G6PD enzyme has a critical role in detoxification and neutralization of free radicals and other oxidative agents in cells، because it catalyzes the first step in pentose phosphate pathway that provides cells with NADPH required for detoxification mechanisms such as glutathione redux cycle. This gene is expressed in all body tissues but the major clinical complications are just seen in erythrocytes because these cells do not have supplies for production of new enzyme and their only source of NADPH is the pentose phosphate pathway. As a result erythrocytes are highly sensitive to oxidative stress. The main clinical manifestations of G6PD deficiency include hemolytic non-spherocytic chronic anemia، neonatal jaundice and acute hemolytic anemia induced by infection or ingestion of fava bean and certain oxidative drugs and chemical agents. This gene is located on distal long arm of X chromosome with a length of about 18Kb that consists of 13 exons and 12 introns. This gene is highly polymorphic so that about 400 biochemical variants and 170 mutations have been reported so far. According to previous studies the most prevalent mutations in Iran are Mediterranean، Chatham and Cosenza. In this paper the role and importance of g6pd and a review of studies on this enzyme in Iran will be described.