Carrier frequency of three common G6PD gene mutations in neonates in province of Mazandaran, North of Iran, 2012

Affecting more than 400 million people worldwide, glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is the most common enzymopathy in the world. In Northern provinces of Iran high rates of incidence of the disease have been reported (8.7% to16.4% of the whole population) and most of these patients carry one of the three common G6PD gene mutations: Mediterranean, Chatham or Cosenza. The aim of this study was to investigate prevalence of each of these mutations among neonates in Mazandaran – a Northern Province of Iran. Four hundred and twelve blood samples were collected and using standard protocols DNA was extracted. In order to detect the above mutations PCR-RFLP method was applied. Fifty three of neonates had G6PD gene mutation (12.9%). About 17% of female and 9% of male newborns were carriers for one of the three common G6PD gene mutations. The Mediterranean type had the highest gene frequency (0.0607) among the three examined mutations. Our study shows around 17% of Mazandarani female population is carrier for one the three common mutations, and since the likelihood of having an affected child in a carrier woman is 1 in every 4 child births, we recommended all women to be screened for the presence of three common G6PD gene mutations prior to pregnancy in order to estimate the possibility of having an affected child and preparation for management of the disease.