Haplotype analysis of the H63D, IVS2+4t/c, and C282Y polymorphisms of the HFE gene reveals rare events of intragenic recombination.

@article{Curcio2008HaplotypeAO,
  title={Haplotype analysis of the H63D, IVS2+4t/c, and C282Y polymorphisms of the HFE gene reveals rare events of intragenic recombination.},
  author={Michele Curcio and Silvia Fornaciari and Maria Luciana Mariotti and Silvia Chelazzi and Fabrizio Scatena and Silvano Presciuttini},
  journal={European journal of haematology},
  year={2008},
  volume={80 4},
  pages={
          341-5
        }
}
OBJECTIVE Two missense mutations of the HFE gene, one (C282Y) being a major gene for hereditary hemochromatosis and the other (H63D) playing a minor role in this disease, are carried by different haplotypes. Among other sequence variants of HFE, IVS2+4t/c polymorphism has been reported as a possible splicing mutation or risk modifier. Our aims were to identify sequence variants possibly associated with iron overload in our population, to study the intragenic haplotypes of the HFE gene, and to… CONTINUE READING