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  • Title: [The usefulness of the detection of Cys282Tyr and His63Asp mutations in the diagnosis of hereditary hemochromatosis].
    Author: Moreno L, Vallcorba P, Boixeda D, Cabello P, Bermejo F, San Román C.
    Journal: Rev Clin Esp; 1999 Oct; 199(10):632-6. PubMed ID: 10589245.
    Abstract:
    BACKGROUND: Hemochromatosis is a hereditary disease the diagnosis and early therapy of which is particularly relevant to prevent the appearance of complications. In 1996, the gene responsible for this condition was identified and was named HFE. OBJECTIVE: To determine the prevalence of Cys282Tyr (C282Y) and His63Asp (H63D) mutations in the HFE gene in a group of patients with the confirmed diagnosis of hereditary hemochromatosis, as well as in a control group of 174 healthy individuals. MATERIALS AND METHODS: Twenty-two patients with the diagnosis of primary hemochromatosis who were on treatment with periodic phlebotomies were studied. All patients had the following parameters measured: serum iron, ferritin, transferrin saturation, serology for hepatitis viruses B and C, liver function tests, abdominal echography and liver biopsy. A control group of 174 healthy individuals, who had their serotype analyzed, was also studied. RESULTS: Eighteen (81.8%) of patients with hemochromatosis were homozygous for the C282Y mutation. One patient was homozygous for the H63D mutation and in other patient no mutation was found. Among individuals in the control group, the allelic frequency of the C282Y mutation was 2.3%, whereas the allelic frequency of the H63D mutation was 19.8%. CONCLUSIONS: The results obtained in our study support the evident association between the C282Y mutation in the HFE gene and hereditary hemochromatosis in our environment.
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