Genetic hemochromatosis update

Hereditary Hemochromatosis is an autosomal recessive disease, characterized by chronic iron overload. It is mainly due to muta- tions of the HFE-1 gene. In the large majority of patients, the sub- stitution of tyrosine for cysteine at amino acid 282 (C282Y) is found at the homozygous state. Since the HFE-1 hemochromatosis identification, several other entities of iron overload have been individualized. In the present article, the frequency, penetrance and pathophysiology of HFE-1 hemochromatosis as well as vari- ous clinical presentations resulting from different mutations affecting different proteins involved in iron metabolism are described. (Acta gastroenterol. belg., 2005, 68, 33-37).