Article
Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.
Haematologica - 1 Apr 2011
Aguilar-Martinez Patricia, Grandchamp Bernard, Cunat Séverine, Cadet Estelle, Blanc François, Nourrit Marlène, Lassoued Kaiss, Schved Jean-François, Rochette Jacques
Abstract excerpt
BACKGROUND: Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous state for C282Y and the widespread p.His63Asp (H63D) variant allele, other rare HFE mutations can be found in trans on chromosome 6. DESIGN AND METHODS: We performed molecular investigation of the genes implicated in hereditary hemochromatosis in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.