engleski

MOLECULAR ANALYSIS OF C282Y AND H63D MUTATIONS OF THE HFE GENE IN PATIENTS WITH LIVER DISEASES - DOES IT MATTER?

Iron overload may be the result of genetic diseases or secondary factors. Hereditary hemochromatosis (HH) is considered one of the most common genetic diseases in Caucasian population which leads to iron overload, chronic liver disease or hepatocellular carcinoma. Since 80-100% of HH are homozygous for C282Y mutation in the HFE gene at codon 282, molecular analysis of mutations of teh HFE gene (C282Y and H63D) may be useful expecially in patients with serum transferrin saturation > 0, 45. The aim of this study therefore is to determine the correlation between iron metabolism parameters and molecular analysis of mutations of the HFE gene. In the age of molecular screeninig strategy, initial serum transferin saturation test followed by molecular analysis of C282Y and H63D mutations of the HFE gene if serum transferrin saturation is >0, 45 significantly contributes to differential diagnostics of iron overload. The p.Cys282Tyr mutation of the HFE gene must be searched for as an initial step to establish the diagnosis of HH in daily practice.

C282Y and H63D mutations; Hereditary Hemochromatosis

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