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Hemochromatosis Author: Professor Pierre BRISSOT

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Topic: Hemochromatosis
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Sort Desciption: Author: Professor Pierre BRISSOT. Creation Date: Decembre 2001. Update: October 2003 Scientific. Editor: Professor Gilbert TCHERNIA. Hemochromatosis is a genetic disease of iron overload due to intestinal hyperabsorption of iron. ...

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Author: Professor Pierre BRISSOT
Creation Date: Decembre 2001
Update: October 2003 Scientific
Editor: Professor Gilbert TCHERNIA
Service des Maladies du Foie and INSERM U-522, University Hospital Pontchaillou 35003 Rennes France.
pierre.brissot@univ-rennes1.fr
Abstract
Hemochromatosis is a genetic disease of iron overload due to intestinal hyperabsorption of iron. It is one of the most prevalent autosomal recessive diseases in Caucasian populations. Hemochromatosis causes severe visceral and metabolic complications at adulthood, which include cirrhosis, diabetes, arthropathy and cardiac failure. A major breakthrough has been the discovery, in 1996, of the HFE gene which is strongly associated with the phenotypic expression of the disease. This discovery has, very quickly, provided a powerful genetic blood test which permits, in most cases, to establish the diagnosis in a non invasive way (i.e. without a liver biopsy). Hemochromatosis can be cured by repeated venesections provided that the diagnosis has been made sufficiently early. Moreover, an efficient preventive strategy can be applied to family members and should now be proposed to the general population. The identification of the HFE gene joined to the discovery of key proteins involved in cellular iron transport and body iron regulation have not only lead to the individualization of new iron overload syndromes but paved the way for novel therapeutic approaches of the disease. Key-words Hemochromatosis, Iron overload, HFE gene, C282Y mutation, H63D mutation, Serum iron, Transferrin saturation, Ferritin, Liver biopsy, Phlebotomy, Venesection Disease name and synonyms Hemochromatosis Hemochromatosis HFE-1 Genetic hemochromatosis Hereditary hemochromatosis Definition/ ...

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