To tell or not to tell - what to do about p.C282Y heterozygotes identified by HFE screening

Mb Delatycki, Michelle Wolthuizen, Mary Anne Aitken, Chriselle Hickerton, Sylvia Ann Metcalfe, K. J. Allen

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Hereditary hemochromatosis (HH) is a common preventable disorder of iron overload that can result in liver cirrhosis and reduced lifespan. Most HH is due to homozygosity for the HFE p.C282Y substitution. We conducted a study of screening for p.C282Y in high schools where p.C282Y heterozygotes (CY) individuals were informed of their genotype by letter. We studied whether these individuals understood the implications of their genotype, whether this resulted in anxiety or reduced health perception and whether cascade testing was higher in families of CY than wild-type homozygous (CC) individuals. We found 586 of 5757 (1 in 10) screened individuals were CY. One month after receiving their result, 83% correctly answered that they have one copy of p.C282Y. There was no adverse change in anxiety or health perception from prior to screening to 1month after receiving results. Significantly more family members of CY individuals than CC individuals were informed about HH and had testing for HH. In conclusion, we found that informing CY individuals of their genotype does not increase anxiety and the implications are generally well understood. This leads to cascade testing in a minority of families. CY individuals should be informed of their genetic status when identified by population screening.

Original languageEnglish
Pages (from-to)286-289
Number of pages4
JournalClinical Genetics
Issue number3
Publication statusPublished - Sep 2013
Externally publishedYes


  • Ethics
  • Genetic screening
  • Harm
  • Hemochromatosis
  • Heterozygote
  • Informed consent

Cite this

Delatycki, M., Wolthuizen, M., Aitken, M. A., Hickerton, C., Metcalfe, S. A., & Allen, K. J. (2013). To tell or not to tell - what to do about p.C282Y heterozygotes identified by HFE screening. Clinical Genetics, 84(3), 286-289.