Analysis of C282Y and H63D mutations of the HFE gene in patients with persistent hyperferritinemia.

Hereditary Hemochromatosis (HH) is a genetical disease caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders and skin darkening. The H63D and C282Y mutations are well defined in the HH etiology. The objective of this paper will be the identification of the H63D and C282Y mutations in the HFE protein gene and the frequency assessment of these mutations in patients with persistent increased of serum ferritin. Out of the 183 patients studied, 51.37% showed absence of mutation and 48.6% showed some sort of mutation: heterozygous C282Y mutation in 4.92% patients; homozigous C282Y mutation in 1.09%; heterozygous H63D mutation in 30,6%; homozigous H63D mutation in 8.74%; and heterozygous for the mutation in both genes in 3.28%. Due to the high prevalence of hemochromatosis, its seriousness and easy treatment, the genetic diagnosis of HH has become a dream, especially in the high risk group.