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Autoři: J. Matějek Působiště autorů: Centrum preventivního lékařství UK 3. LF, Praha, vedoucí prof. MUDr. Kamil Provazník, CSc. Oddělení zdraví dětí a mládeže CPL UK 3. LF, Praha, vedoucí doc. MUDr. Hana Provazníková, CSc. Centrum biomedicínských oborů UK 3. LF, Praha, vedoucí prof. MUDr. Ri Vyšlo v časopise: Prakt. Lék. 2004; (6): 41-48 Kategorie: Články
Hereditary haemochromatosis is one of the most frequent autosomal recessivediseases. It involves excessive iron absorption, its deposition in organs andsubsequent damage of the organism. Most frequently the liver is affected, a fearedcomplication is the developmentof hepatocellular carcinoma. Early diagnosis andsubsequent treatment can avert these serious complications of haemochromatois.In 1996 a gene for haemochromatosis was detected - HFE gene and its majoritymutation C282Y. The discovery of further mutations followed. Thus there are newopportunities for diagnosis - a genetic test. Its importance is in the early detectionof affected subjects. The importance of haemochromatosis is apparent also fromthe extensive discussion of the professional public and interest of professionalsocieties in this disease, in particular in conjunction with the problem of screening. :
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