SEARCH:   Advanced

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 (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 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. Social Bookmarking                   What's this? Submitted October 22, 2003 Accepted December 2, 2003 Hemochromatosis mutations in the general population: iron overload progression rate Rolf Vaern Andersen, Anne Tybjaerg-Hansen, Merete Appleyard, Henrik Birgens, and Borge Gronne Nordestgaard* Clinical Biochemistry, Herlev University Hospital, Herlev, Denmark; The Copenhagen City Heart Study, Bispebjerg University Hospital, Copenhagen, Denmark Hematology, Herlev University Hospital, Herlev, Denmark Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark * Corresponding author; email: brno{at}herlevhosp.kbhamt. 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 two subjects each of five other HFE genotypes with respect to gender, age, and alcohol consumption. As a function of biological age, transferrin saturation increased from 50-70% from 25-85 years and from 70-80% from 35-80 years in female and male C282Y homozygotes, respectively. Equivalently, ferritin levels increased from 100-500 µg/L and decreased from 800-400 µg/L in female and male C282Y homozygotes. As a function of 25 years follow-up irrespective of age, transferrin saturation and ferritin 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, 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 10-20 years. 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. Rogowski The Cost-Effectiveness of Screening for Hereditary Hemochromatosis in Germany: A Remodeling Study Med Decis Making, March 1, 2009; 29(2): 224 - 238. [Abstract] [PDF] J. Waalen, V. J. Felitti, T. Gelbart, and E. Beutler Screening for hemochromatosis by measuring ferritin levels: a more effective approach Blood, April 1, 2008; 111(7): 3373 - 3376. [Abstract] [Full Text] [PDF] K. J. Allen, L. C. Gurrin, C. C. Constantine, N. J. Osborne, M. B. Delatycki, A. J. Nicoll, C. E. McLaren, M. Bahlo, A. E. Nisselle, C. D. Vulpe, et al. Iron-Overload-Related Disease in HFE Hereditary Hemochromatosis N. Engl. J. Med., January 17, 2008; 358(3): 221 - 230. [Abstract] [Full Text] [PDF] A. Piperno, D. Girelli, E. Nemeth, P. Trombini, C. Bozzini, E. Poggiali, Y. Phung, T. Ganz, and C. Camaschella Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis Blood, December 1, 2007; 110(12): 4096 - 4100. [Abstract] [Full Text] [PDF] C. Ellervik, A. Tybjaerg-Hansen, M. Appleyard, H. Sillesen, G. Boysen, and B. G. Nordestgaard Hereditary hemochromatosis genotypes and risk of ischemic stroke Neurology, March 27, 2007; 68(13): 1025 - 1031. [Abstract] [Full Text] [PDF] U.S. Preventive Services Task Force* Screening for hemochromatosis: recommendation statement. Ann Intern Med, August 1, 2006; 145(3): 204 - 208. [Abstract] [Full Text] [PDF] E. P. Whitlock, B. A. Garlitz, E. L. Harris, T. L. Beil, and P. R. Smith Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med, August 1, 2006; 145(3): 209 - 223. [Abstract] [Full Text] [PDF] D. W. Swinkels, M. C.H. Janssen, J. Bergmans, and J. J.M. Marx Hereditary Hemochromatosis: Genetic Complexity and New Diagnostic Approaches Clin. Chem., June 1, 2006; 52(6): 950 - 968. [Abstract] [Full Text] [PDF] L. Peltonen, M. Perola, J. Naukkarinen, and A. Palotie Lessons from studying monogenic disease for common disease. Hum. Mol. Genet., April 15, 2006; 15(suppl_1): R67 - R74. [Full Text] [PDF] L. W. Powell, J. L. Dixon, G. A. Ramm, D. M. Purdie, D. J. Lincoln, G. J. Anderson, V. N. Subramaniam, D. G. Hewett, J. W. Searle, L. M. Fletcher, et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med, February 13, 2006; 166(3): 294 - 301. [Abstract] [Full Text] [PDF] S. Goland, S. D. Malnick, C. Ellervik, B. G. Nordestgaard, A. Tybjaerg-Hansen, P. Grande, A. Tybjaerg-Hansen, M. Appleyard, and B. G. Nordestgaard Letter Regarding Article by Ellervik et al, "Hereditary Hemochromatosis and Risk of Ischemic Heart Disease: A Prospective Study and a Case-Control Study" * Response Circulation, January 3, 2006; 113(1): e10 - e10. [Full Text] [PDF] A. Qaseem, M. Aronson, N. Fitterman, V. Snow, K. B. Weiss, D. K. Owens, and for the Clinical Efficacy Assessment Subcommittee Screening for Hereditary Hemochromatosis: A Clinical Practice Guideline from the American College of Physicians Ann Intern Med, October 4, 2005; 143(7): 517 - 521. [Abstract] [Full Text] [PDF] B. Schmitt, R. M. Golub, and R. Green Screening Primary Care Patients for Hereditary Hemochromatosis with Transferrin Saturation and Serum Ferritin Level: Systematic Review for the American College of Physicians Ann Intern Med, October 4, 2005; 143(7): 522 - 536. [Abstract] [Full Text] [PDF] C. Ellervik, A. Tybjaerg-Hansen, P. Grande, M. Appleyard, and B. G. Nordestgaard Hereditary Hemochromatosis and Risk of Ischemic Heart Disease: A Prospective Study and a Case-Control Study Circulation, July 12, 2005; 112(2): 185 - 193. [Abstract] [Full Text] [PDF] P. C. Adams, D. M. Reboussin, C. Leiendecker-Foster, G. C. Moses, G. D. McLaren, C. E. McLaren, F. W. Dawkins, I. Kasvosve, R. T. Acton, J. C. Barton, et al. 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]

	Copyright © 2003 by American Society of Hematology         Online ISSN: 1528-0020