Genetic hemochromatosis, a Celtic disease: is it now time for population screening?

@article{Byrnes2001GeneticHA,
  title={Genetic hemochromatosis, a Celtic disease: is it now time for population screening?},
  author={Vaughan Byrnes and Eleanor Ryan and Sharon M.L. Barrett and Patrick Kenny and Paul Mayne and John Crowe},
  journal={Genetic testing},
  year={2001},
  volume={5 2},
  pages={127-30}
}
In populations of northern European ancestry, hereditary hemochromatosis (HH) is tightly linked to mutations within the hemochromatosis gene (HFE gene). Over 93% of Irish HH patients are homozygous for the HFE gene C282Y mutation, providing a reliable diagnostic marker of the disease in this population. However, the prevalence of the C282Y mutation and that of the second HFE gene mutation, H63D, have yet to be determined within the Irish population. The objective of this study was to identify… CONTINUE READING
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