Hereditary hemochromatosis is one of the most frequent inherited disea
ses. It is determined by an increased intestinal absorption with conse
cutive iron overload and loss of function of different parenchymal org
ans as liver and pancreas. In case of early diagnosis and therapy prog
nosis of hereditary hemochromatosis is excellent. The recent discovery
of the hereditary hemochromatosis candidate gene HLA-H and the availa
bility of a genetic test open new aspects in the diagnosis of the dise
ase which will be reviewed here.