Article
[The diagnosis of hemochromatosis in the era of the gene].
Annales d'endocrinologie - 1 Sept 1999
Brissot P, Moirand R, Guyader D, Jouanolle A M, David V, Deugnier Y
Abstract excerpt
The discovery of the hemochromatosis gene has deeply changed and simplified the diagnosis of the disease. In a given individual, establishing the diagnosis relies, from now on, on a simple blood sample showing the couple: elevated transferrin saturation and homozygous C282Y mutation (= C282Y +/+). Liver biopsy should only be performed when iron overload is massive in order to detect cirrhosis (or bridging...
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