Article
Phenotypic expression in detected C282Y homozygous women depends on body mass index.
Journal of hepatology - 1 Dec 2005
Lainé Fabrice, Jouannolle Anne-Marie, Morcet Jeff, Brigand Alain, Pouchard Michel, Lafraise Bernard, Mosser Jean, David Véronique, Deugnier Yves
Abstract excerpt
BACKGROUND/AIMS: In HFE-related haemochromatosis, a large proportion of C282Y homozygotes, especially women, are not detected by phenotypic screening using transferrin saturation. The aim of this study was to identify the clinical and biochemical factors associated with non-expression of the disease as defined as transferrin saturation <45%. METHODS: The study was performed in 78 (57 women and 21 men) C282Y...
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