Article
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.
American journal of hematology - 1 Dec 2016
Hamdi-Rozé Houda, Beaumont-Epinette Marie-Pascale, Ben Ali Zeineb, Le Lan Caroline, Loustaud-Ratti Véronique, Causse Xavier, Loreal Olivier, Deugnier Yves, Brissot Pierre, Jouanolle Anne-Marie, Bardou-Jacquet Edouard
Abstract excerpt
p.Cys282Tyr (C282Y) homozygosity explains most cases of HFE-related hemochromatosis, but a significant number of patients presenting with typical type I hemochromatosis phenotype remain unexplained. We sought to describe the clinical relevance of rare HFE variants in non-C282Y homozygotes. Patients referred for hemochromatosis to the National Reference Centre for Rare Iron Overload Diseases from 2004 to 2010 were...
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