Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.

@article{Mattman2002TransferrinR2,
  title={Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.},
  author={Andre Mattman and David Huntsman and Gillian Lockitch and Sylvie Langlois and Noel Buskard and Diana Ralston and Yaron S. N. Butterfield and Pedro Henrique de Carli Rodrigues and Steven Norman Jones and Graça Porto and Marco La Marra and Maria Leonor Baptista de Sousa and G. P. Vatcher},
  journal={Blood},
  year={2002},
  volume={100 3},
  pages={1075-7}
}
Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several… CONTINUE READING