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

Authors

  • MB Delatycki,

    Corresponding author
    1. Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia
    2. Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
    • Murdoch Childrens Research Institute, Parkville, Victoria, Australia
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    • These authors contributed equally to this work.

  • M Wolthuizen,

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
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    • These authors contributed equally to this work.

  • MA Aitken,

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia
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  • C Hickerton,

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
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  • SA Metcalfe,

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia
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  • KJ Allen

    1. Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    2. Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia
    3. Department of Allergy and Immunology, Royal Children's Hospital, Parkville, Victoria, Australia
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  • The authors have no conflict of interest.

Corresponding author: Prof Martin

Delatycki, Bruce Lefroy Centre for

Genetic Health Research, Murdoch

Childrens Research Institute,

Flemington Road, Parkville, Victoria

3052, Australia.

Tel.: +61 3 9496 4355;

fax: +61 3 8341 6390;

e-mail: martin.delatycki@ghsv.org.au

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, 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.

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