Hereditary haemochromatosis is one of the most frequent autosomal recessive diseases. It involves excessive iron absorption, its deposition in organs and subsequent damage of the organism. Most frequently the liver is affected, a feared complication is the developmentof hepatocellular carcinoma. Early diagnosis and subsequent treatment can avert these serious complications of haemochromatois. In 1996 a gene for haemochromatosis was detected - HFE gene and its majority mutation C282Y. The discovery of further mutations followed. Thus there are new opportunities for diagnosis - a genetic test. Its importance is in the early detection of affected subjects. The importance of haemochromatosis is apparent also from the extensive discussion of the professional public and interest of professional societies in this disease, in particular in conjunction with the problem of screening.

        Key words: haemochromatosis - HFE gene - mutation C282Y - mutation H63D - community genetics - screening