Phenotypic expression in detected C282Y homozygous women depends on body mass index.

@article{Laine2005PhenotypicEI,
  title={Phenotypic expression in detected C282Y homozygous women depends on body mass index.},
  author={Fabrice Laine and Anne-Marie Jouannolle and Jeff Morcet and Alain Brigand and Michel Pouchard and Bernard Lafraise and Jean Mosser and V{\'e}ronique David and Yves Deugnier},
  journal={Journal of hepatology},
  year={2005},
  volume={43 6},
  pages={1055-9}
}
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 homozygotes identified through a large-scale screening program conducted on 19,644… CONTINUE READING

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