Journal article
To tell or not to tell - what to do about p.C282Y heterozygotes identified by HFE screening
M Delatycki, M Wolthuizen, M Aitken, C Hickerton, S Metcalfe, K Allen
Clinical Genetics | Published : 2013
DOI: 10.1111/cge.12053
Abstract
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..
View full abstractGrants
Funding Acknowledgements
Funding for this study was provided by the National Health and Medical Research Council (NHMRC), the Jack Brockhoff Foundation, Murdoch Childrens Research Institute and the Victorian Government's Operational Infrastructure Support Program. K.J.A. is Viertel Senior Medical Research Fellow and M.B.D. is an NHMRC Practitioner Fellow.