Article
HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening.
Genetic testing - 1 Jan 2007
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 D, Dawkins Fitzroy W
Abstract excerpt
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...
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