Haemochromatosis mutations in North-East Scotland

Z Miedzybrodzka, S Loughlin, D Baty, A Terron, K Kelly, J Dean, M Greaves, M Pippard, N Haites

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Abstract

The HFE gene and its mutations C282Y and H63D cause hereditary haemochromatosis (HH). Among 54 affected individuals from North-East Scotland, 91% were homozygous for C282Y and 5.5% were compound heterozygotes for C282Y and H63D. The general population allele frequencies were high (8% and 15.7% for C282Y and H63D respectively). Although it is likely that HH is under diagnosed, these figures suggest that disease expression is variable, and many of those with the genetic predisposition HH will never develop the clinical consequences of iron overload. This has implications for diagnosis and predictive testing.

Original languageEnglish
Pages (from-to)385-387
Number of pages3
JournalBritish Journal of Haematology
Volume106
Publication statusPublished - 1999

Keywords

  • haemochromatosis
  • mutation
  • HFE
  • C282Y
  • H63D
  • HEREDITARY HEMOCHROMATOSIS
  • HFE GENE
  • POPULATION
  • PREVALENCE

Cite this

Miedzybrodzka, Z., Loughlin, S., Baty, D., Terron, A., Kelly, K., Dean, J., Greaves, M., Pippard, M., & Haites, N. (1999). Haemochromatosis mutations in North-East Scotland. British Journal of Haematology, 106, 385-387.