[Hemochromatosis. Determination of the C282Y mutation frequency in the population of the Czech Republic and sensitivity of hemochromatosis detection using Guthrie cards].

Abstract excerpt

BACKGROUND: Hereditary haemochromatosis (HH) is a multi-organ disease characterized by increased deposition of iron in some tissues. When discovered early the disease is curable. The Caucasian population is burdened with a high incidence of carriers and homozygotes. The recent discovery of the gene for haemochromatosis (HFE) and of the major mutation C282Y makes direct diagnosis possible. METHODS AND RESULTS:...

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