The case report of an adolescent girl, who was examined for fatigue conditions and sleep disorders is presented. There was a repeated detection of high level of plasma iron and a high saturation of transferrin: liver biopsy revealed storage of iron in the liver and a high saturation of transferrin, while a subsequent genetic examination determined mutation of the HFE gene, causing hereditary hemochromatosis. When the diagnosis was established the therapy by repeated venepuncturewas initiated in order to decrease superfluous storage of iron in the organism. The patient is affected at an early age by the disease, which usually becomes manifest at the adult age. In view of the early beginning of the treatment the prognosis of the disease appears to be favourable.

        Key words: juvenile hemochromatosis, hereditary hemochromatosis type 1, mutation of HFE gene