The S65C mutation in Spain. Implications for iron overload screening

Hereditary hemochromatosis is related to mutations of the HFE gene. The rol e of the S65C mutation of this gene was evaluated in a Spanish population, consisting of 100 controls and 41 patients who had resulted positive to scr eening for iron overload. Only one patient was heterozygous for the S65C mu tation, so the S65C mutation is infrequent in our area. Nevertheless, it is advisable to search for this mutation in cases with iron overload and hete rozygosity for the C282Y or H63D mutations of the HFE gene.