The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population

  title={The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population},
  author={A. Merryweather-Clarke and M. Worwood and L. Parkinson and C. Mattock and Jennifer J. Pointon and J. D. Shearman and K. Robson},
  journal={British Journal of Haematology},
  • A. Merryweather-Clarke, M. Worwood, +4 authors K. Robson
  • Published 1998
  • Medicine
  • British Journal of Haematology
  • High frequencies of the haemochromatosis‐related HFE C282Y mutation have been reported in North European populations, in which a high proportion of patients with the disease are homozygotes. However, the degree of penetrance of this genotype is unknown. We determined the HFE C282Y and H63D genotypes of 411 consenting volunteer blood donors on Jersey, and the serum ferritin and transferrin saturation levels of 204 of these volunteers. The C282Y allele frequency was found to be 8.3% in 822… CONTINUE READING
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