Hereditary hemochromatosis is an autosomal recessive disorder of iron regulation that results in excessive intestinal absorption of iron. This metabolism leads to early multi systemic and non specific signs such as liver cirrhosis, hepatocellular carcinoma, diabetes mellitus, skin pigmentation, hypogonadotrophic hypogonadism, arthropathy and cardiomyopathy [1]. The hemochromatosis gene (HFE) is localized in human chromosome 6p21.3 [2]. Homozygosity for the C282Y mutation has been reported in 60-100% of individuals with hemochromatosis in European populations [3]. However, the H63D mutation has a frequency of approximately 16% in the European populations [2,3]. The S65C mutation is much rarer and is associated with a mild form of hemochromatosis [4]. In the general population in Europe, the prevalence of the C282Y mutation is estimated to be 9.2% (heterozygote) and 0.4% (homozygote). The prevalence of the C282Y mutation differs in different populations in the Slavic populations (1.9% in the former USSR and 10.0% in the Czech Republic). This mutation is absent in populations outside Europe and the USA [5].

The prevalence of the S65C mutation that has been associated with the development of a mild form of iron overload is 5.0% in the Republic of Macedonia [6], 2.5% in France [4], 1.5% in Denmark [7] and 1.1% in the USA [5]. The prevalence of the H63D mutation is equally high in northwestern and southern European populations, where 22.0% are estimated to be heterozygotes and 2.0% homozygotes. It is the highest in Spain (32.1%), lower in Norway and the former USSR (18.0%) and in India (15.0%). It is very rare outside Europe and the USA [5].

The aim of this study was to determine the frequency of HFE gene mutations (C282Y, S65C, and H63D) in Antalya, Turkey, which is a bridge between Asia and Europe.