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 language | English (US) |
|---|---|
| Pages (from-to) | 269-275 |
| Number of pages | 7 |
| Journal | Genetic Testing |
| Volume | 11 |
| Issue number | 3 |
| DOIs | |
| State | Published - Sep 1 2007 |
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ASJC Scopus subject areas
- Genetics(clinical)
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HFE C282Y homozygotes aged 25-29 years at HEIRS study initial screening. / Barton, James C.; Acton, Ronald T.; Leiendecker-Foster, Catherine; Lovato, Laura; Adams, Paul C.; McLaren, Gordon D.; Eckfeldt, John H.; McLaren, Christine E.; Reboussin, David M.; Gordeuk, Victor R.; Speechley, Mark R.; Reiss, Jacob A.; Press, Richard; Dawkins, Fitzroy W.
In: Genetic Testing, Vol. 11, No. 3, 01.09.2007, p. 269-275.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - HFE C282Y homozygotes aged 25-29 years at HEIRS study initial screening
AU - Barton, James C.
AU - Acton, Ronald T.
AU - Leiendecker-Foster, Catherine
AU - Lovato, Laura
AU - Adams, Paul C.
AU - McLaren, Gordon D.
AU - Eckfeldt, John H.
AU - McLaren, Christine E.
AU - Reboussin, David M.
AU - Gordeuk, Victor R.
AU - Speechley, Mark R.
AU - Reiss, Jacob A.
AU - Press, Richard
AU - Dawkins, Fitzroy W.
PY - 2007/9/1
Y1 - 2007/9/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=35349011678&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=35349011678&partnerID=8YFLogxK
U2 - 10.1089/gte.2007.0003
DO - 10.1089/gte.2007.0003
M3 - Article
C2 - 17949288
AN - SCOPUS:35349011678
VL - 11
SP - 269
EP - 275
JO - Genetic Testing and Molecular Biomarkers
JF - Genetic Testing and Molecular Biomarkers
SN - 1945-0265
IS - 3
ER -