HFE C282Y homozygotes aged 25-29 years at HEIRS study initial screening

James C. Barton, Ronald T. Acton, Catherine Leiendecker-Foster, Laura Lovato, Paul C. Adams, Gordon D. McLaren, John H. Eckfeldt, Christine E. McLaren, David M. Reboussin, Victor R. Gordeuk, Mark R. Speechley, Jacob A. Reiss, Richard D. Press, Fitzroy W. Dawkins

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


We characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis and IRon Overload Screening (HEIRS) Study using health questionnaire responses, transferrin saturation (TfSat), serum ferritin (SF), and HFE genotyping. In eight homozygotes, we used denaturing high-performance liquid chromatography and sequencing to search for HFE2 (= HJV), TFR2, HAMP, SLC40A1 (= FPN1), and FTL mutations. Sixteen of 4,008 White or Hispanic participants aged 25-29 years had C282Y homozygosity (15 White, 1 Hispanic); 15 were previously undiagnosed. Eleven had elevated TfSat; nine had elevated SF. None reported iron overload-associated abnormalities. No deleterious non-HFE mutations were detected. The prevalence of C282Y homozygosity in White or Hispanic HEIRS Study participants aged 25-29 years did not differ significantly from the prevalence of C282Y homozygosity in older White or Hispanic HEIRS Study participants. The prevalences of reports of iron overload-associated abnormalities were not significantly different in these 16 C282Y homozygotes and in HFE wt/wt control participants aged 25-29 years who did not report having hemochromatosis or iron overload. We conclude that C282Y homozygotes aged 25-29 years diagnosed by screening infrequently report having iron overload-associated abnormalities, although some have elevated SF. Screening using an elevated TfSat criterion would fail to detect some C282Y homozygotes aged 25-29 years.

Original languageEnglish (US)
Pages (from-to)269-275
Number of pages7
JournalGenetic Testing
Issue number3
StatePublished - Sep 1 2007

ASJC Scopus subject areas

  • Genetics(clinical)


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