Objective: Wilson's disease (WD) is a hereditary disorder of copper metabolism. The metabolic pathways of copper and iron are interrelated. Our goal was to determine the frequency of the two most common mutations in the coding region of the human iron homeostatic protein gene (HFE) in Europe: C282Y (rs1800562) and H63D (rs1799945) in WD patients, as well as to analyze their relation with WD phenotypic traits.
Material and methods: HFE mutations were studied by PCR RFLP method in 445 WD patients and 102 controls. All patients met the diagnostic criteria of WD 8th International Conference on Wilson Disease and Menkes Disease.
Results: HFE C282Y heterozygotes, both women and men, showed WD symptoms earlier than patients with wild-type HFE genotype. HFE 63HD heterozygous men presented symptoms later than HFE 63HH homozygotes, but HFE 63HD women manifested symptoms later than those with HFE 63HH genotype.
Conclusions: HFE genotype seems to be one of the factors modifying Wilson's disease phenotype.
Keywords: HFE gene; Wilson’s disease; iron; phenotype.