These authors contributed equally to this work.
To tell or not to tell – what to do about p.C282Y heterozygotes identified by HFE screening
Article first published online: 27 NOV 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 3, pages 286–289, September 2013
How to Cite
To tell or not to tell – what to do about p.C282Y heterozygotes identified by HFE screening., , , , , .
The authors have no conflict of interest.
- Issue published online: 12 AUG 2013
- Article first published online: 27 NOV 2012
- Accepted manuscript online: 2 NOV 2012 12:52PM EST
- Manuscript Revised: 30 OCT 2012
- Manuscript Accepted: 30 OCT 2012
- Manuscript Received: 28 AUG 2012
- National Health and Medical Research Council (NHMRC)
- Jack Brockhoff Foundation
- Murdoch Childrens Research Institute
- Victorian Government's Operational Infrastructure Support Program
- genetic screening;
- informed consent
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 1 month 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.