frequency and biochemical expression of hemochromatosis (hfe) gene mutations in 1029 blood donors in iran

background: there are no data on the frequency and biochemical expression of the hemochromatosis associated mutations, c282y and h63d, in iranian adult population. this is the first study among iranians that may advocate a screening program. materials and methods: we investigated the frequency of the c282y/h63d hfe gene mutations in a group of 1029 randomly selected iranian blood donors as well as transferrin saturation (ts), serum iron and serum ferritin levels. dna extraction with salting-out method was performed on blood samples and the analysis of hfe gene mutations was performed by pcr amplification followed by digestion with rsai and bcli restriction enzymes. results: the mean age of donors was 40±11 years and 92.7% were male. no homozygosity was detected for the c282y mutation. heterozygosity for the c282y mutation was 0.2%, while homozygosity and heterozygosity for the h63d mutation were 1.6% and 19.6%, respectively. there was no compound heterozygote for the c282y/h63d mutation. these data resulted in allele frequencies of 0.1% and 11.3% for c282y and h63d mutations, respectively. serum iron and ts were not influenced by the type of c282y and h63d mutation. there was no difference in ferritin levels according to type of hfe mutations among blood donors. conclusions: this study shows low allele frequency for c282y and h63d mutations in iran. these results also suggest that there is not any association between hfe gene mutations and iron, ts and ferritin level among iranian population. the genetic screening for the hfe gene mutation in iran is not recommended until the true prevalence of other mutations in all hemochromatosis genes could be established.