Journal
GENETIC TESTING
Volume 11, Issue 3, Pages 269-275Publisher
MARY ANN LIEBERT, INC
DOI: 10.1089/gte.2007.0003
Keywords
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Funding
- NCI NIH HHS [N01-CM-07003-74] Funding Source: Medline
- NCRR NIH HHS [M01-RR00827, M01-RR00032, M01-RR10284] Funding Source: Medline
- NHLBI NIH HHS [N01-HC05191, N01-HC05185, N01-HC05186, N01-HC05188, UH1-HL03679-05, N01-HC05190] Funding Source: Medline
- PHS HHS [N01-C05192, N01-C05189] Funding Source: Medline
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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 25-19 years.
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