Article
The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.
Haematologica - 1 Apr 2010
Aguilar-Martinez Patricia, Bismuth Michael, Blanc François, Blanc Pierre, Cunat Severine, Dereure Olivier, Dujols Pierre, Giansily-Blaizot Muriel, Jorgensen Christian, Konate Amadou, Larrey Dominique, Le Quellec Alain, Mura Thibault, Raingeard Isabelle, Ramos Jeanne, Renard Eric, Rousseau Florence, Schved Jean-François, Picot Marie-Christine
Abstract excerpt
BACKGROUND: Despite great progress in understanding the mechanisms underlying genetic hemochromatosis, data on the prevalence and the penetrance of the disorder are conflicting. DESIGN AND METHODS: A registry of patients with genetic hemochromatosis was established in the South of France and a regional health network was developed to allow the inclusion of all the diagnosed patients. C282Y homozygous patients...
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