Molecular characterization of hereditary hemochromatosis in Matera province

Hereditary hemochromatosis is a common recessive disorder characterized by ironoverload that leads to multi-organ failure. The classic disease is associated with HFE gene mutation so chromosome6; other forms were related to genes involved in iron transport, storage, and regulation. The aim of this work was directed to investigate: a) thefrequency of the main mutations; b) the association between mutations and case so hemochromatosis in Matera province (Basilicata, Italy).The experimental design provided DNA extraction from whole blood of 195 individuals resident in Matera district. DNA amplification by multiplex PCR, reverse dot-blot on nitrocellulose strips, statistical data analysis were performed to analyze the presence of 11 HFE gene mutations ( V53M, V59M, H63D, H63H, S65C, Q127H, E168X, E168Q, W169X, C282Y, Q283P), 4Transferrin Receptor mutations (Y250X, E60X, M172K, the AVAQ594-597) and 2 Ferroportin mutations (N144H, V162). 117subjects(60%)of the analyzed population were healthy, 62 (32%) were heterozygous (57 cases H63D/wt,4 C282Y/wt, 1S65C/wt). There were 16 patients with hemochromatosis (10cases H63D/H63D, 2C282Y/C282Y, 4H63D/C282Y). Genotypic frequencies showed important differences in comparison with data on Italian population, where C28Y homozygous are more frequent and they manifest more severe iron over load than the other HFE genotypes.