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Blood, 15 April 2004, Vol. 103, No. 8, pp. 2914-2919. Prepublished online as a Blood First Edition Paper on December 4, 2003; DOI 10.1182/blood-2003-10-3564. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-10-3564v1 103/8/2914    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Andersen, R. V. Articles by Nordestgaard, B. G. Search for Related Content PubMed PubMed Citation Articles by Andersen, R. V. Articles by Nordestgaard, B. G. Related Collections Red Cells Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS Hemochromatosis mutations in the general population: iron overload progression rate Rolf Værn Andersen, Anne Tybjærg-Hansen, Merete Appleyard, Henrik Birgens, and Børge Grønne Nordestgaard From the Department of Clinical Biochemistry and Department of Hematology, Herlev University Hospital, Copenhagen, Denmark; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; and The Copenhagen City Heart Study, Bispebjerg University Hospital, University of Copenhagen, Copenhagen, Denmark.. The progression rate of iron overload in hereditary hemochromatosis in individuals in the general population is unknown. We therefore examined in the general population iron overload progression rate in C282Y homozygotes. Using a cohort study of the Danish general population, The Copenhagen City Heart Study, we genotyped 9174 individuals. The 23 C282Y homozygotes identified were matched to 2 subjects each of 5 other HFE genotypes with respect to sex, age, and alcohol consumption. As a function of biologic age, transferrin saturation increased from 50% to 70% from 25 to 85 years of age and from 70% to 80% from 35 to 80 years of age in female and male C282Y homozygotes, respectively. Equivalently, ferritin levels increased from 100 to 500 µg/L and decreased from 800 to 400 µg/L in female and male C282Y homozygotes. As a function of 25 years follow-up irrespective of age, transferrin saturation and ferritin levels increased slightly in male and female C282Y homozygotes. None of the C282Y homozygotes developed clinically overt hemochromatosis. In conclusion, individuals in the general population with C282Y homozygosity at most demonstrate modest increases in transferrin saturation and ferritin levels, and clinically overt hemochromatosis is rare. Therefore, C282Y homozygotes identified during population screening, and not because of clinically overt hemochromatosis, at most need to be screened for manifestations of hemochromatosis every 10 to 20 years. (Blood. 2004;103: 2914-2919) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. Kautz, D. Meynard, C. Besson-Fournier, V. Darnaud, T. Al Saati, H. Coppin, and M.-P. Roth BMP/Smad signaling is not enhanced in Hfe-deficient mice despite increased Bmp6 expression Blood, September 17, 2009; 114(12): 2515 - 2520. [Abstract] [Full Text] [PDF] W. H. 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Comparison of the Unsaturated Iron-Binding Capacity with Transferrin Saturation as a Screening Test to Detect C282Y Homozygotes for Hemochromatosis in 101 168 Participants in the Hemochromatosis and Iron Overload Screening (HEIRS) Study Clin. Chem., June 1, 2005; 51(6): 1048 - 1052. [Full Text] [PDF] P. C. Adams, D. M. Reboussin, J. C. Barton, C. E. McLaren, J. H. Eckfeldt, G. D. McLaren, F. W. Dawkins, R. T. Acton, E. L. Harris, V. R. Gordeuk, et al. Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population N. Engl. J. Med., April 28, 2005; 352(17): 1769 - 1778. [Abstract] [Full Text] [PDF] K. Juul, B. G. Nordestgaard, and A. Tybjaerg-Hansen Factor V Leiden and Venous Thromboembolism Ann Intern Med, September 21, 2004; 141(6): 484 - 485. [Full Text] [PDF]

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