Leão, Gioconda D. R.2023-01-272023-01-272008-02LEÃO, Gioconda D. R. Análise das mutações C282Y e H63D no gene da proteína HFE em pacientes com hiperferritinemia. Revista Brasileira de Hematologia e Hemoterapia, v.30 n.3, 2008.1516-8484https://repositorio.ufrn.br/handle/123456789/51063Hereditary hemochromatosis (HH) is a recessive autosomal disease characterized by iron overload in some tissues, including of the heart, liver, pancreas, hypophysis and joints, with C282Y and H63D mutations in the HFE protein gene being directly related to the etiology of this disease. The aim of this paper was to detect the frequencies of H63D and C282Y genetical mutations in a group of patients with a history of persistent hyperferritinemia in the city of Natal, Brazil. A total of 183 male and female patients, with ages ranging from 15 to 70 years, were investigated for the presence of C282Y and H63D mutations. Additionally, clinical data and information about alcohol consumption and high-iron diets were obtained. In order to carry out a genetic study, genomic DNA samples from peripheral blood were sent for amplification of the C282Y and H63D genes by polymerases chain reaction using specific primers. Subsequently, the amplification products were digested by Bcl1 and Snab1 restriction enzymes, to detect the H63D and C282Y mutations. A group of 60 healthy male and female individuals without hyperferritinemia were also investigated to evaluate the frequencies of the H63D and C282Y mutations in our region. Of the patients, 94 (51.4%) presented without any mutations and 48.6% had some type of mutation: 9 (5.0%) cases were heterozygous for the C282Y mutant, 2 (1.1%) were homozygous for the C282Y mutant, 56 (31%) were heterozygous for the H63D mutant, 16 (8.7%) were homozygous for the H63D mutant and 6 (3.3%) were heterozygous for both mutants (H63D/C282Y). Although no significant difference was observed between genders in respect to the presence or absence of the mutations studied, both for the control group and the patient group, a higher concentration of serum ferritin was identified in men. Due to the high HH prevalence in our region, early HH molecular screening should be performed, especially for hyperferritinemia sufferers, because of the efficacy and low cost of treatment, thus avoiding the evolution to clinical manifestations and increasing the quality of life and life expectancy of these patients.Hemocromatose hereditáriaMutação H63DMutação C282YGene da proteína HFEHiperferritinemiaarticle