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

Abstract

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
Volume11
Issue number3
DOIs
StatePublished - Sep 1 2007

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