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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Genetic hemochromatosis update.

Hereditary Hemochromatosis is an autosomal recessive disease, characterized by chronic iron overload. It is mainly due to mutations of the HFE-1 gene. In the large majority of patients, the substitution 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 various clinical presentations resulting from different mutations affecting different proteins involved in iron metabolism are described.[1]

References

  1. Genetic hemochromatosis update. Brissot, P., Le Lan, C., Lorho, R., Gaboriau, F., Lescoat, G., Loréal, O. Acta Gastroenterol. Belg. (2005) [Pubmed]
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