Molecular-genetic diagnosis of hereditary hemochromatosis

Polymerase chain reaction was used for diagnosis of mutations of C282Y, H63D and S65C gene of FIFE hemochromatosis in 140 of 500 HLA-examined patients. By the results of typing antigens of A- and B-loci, the patients were divided into 4 groups: carriers of HLA markers of hereditary hemochromatosis (HH) antigens A3 and/or B7(B14) - groups 1; A3 or B7 or B14 - 2; carriers of antigens HLA-A1 and/or B8 - group 3; patients without HLA-markers of HH. Mutations were found in 52.13% cases (C282Y - 17.8%, H63D - 32.9%, S65C - 1.43%). Significant relationship between HH and antigens A3, B7, B14 and markers of HLA-associated hemochromatosis with C282Y, H63D, S65C mutations of HFE hemochromatosis gene was not established. Thus, of clinical importance for hemochromatosis diagnosis are parallel data of serological and molecular-genetic investigations.