Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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Camaschella C et al. (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. 
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| 2. |
Griffiths W et al. (2000) Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.
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Montosi G et al. (2001) Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene.
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Fleming RE et al. (2001) Hepcidin: a putative iron-regulatory hormone relevant to hereditary hemochromatosis and the anemia of chronic disease.
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Orphanet article Orphanet ID 139491
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| 6. |
Wikipedia article Wikipedia EN (Iron_overload)
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