Hemochromatosis is a disorder of iron metabolism causes by insufficient excretion of surplus iron which results in iron overload. Most susceptible organs are the liver that can develop cirrhosis and pancreas in which a diabetes may be caused.
As the automatic regulation of iron storage is disturbed this has to be controlled manually by regular iron measurements and phlebotomy.
Camaschella C et. al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22.[^]
Griffiths W et. al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.[^]
Montosi G et. al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.[^]
Fleming RE et al. (2001) Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease.[^]