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Research Priorities in Hereditary Hemochromatosis

Gary M. Brittenham, MD; Adele L. Franks, MD; and Frederick R. Rickles, MD
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From Columbia University College of Physicians and Surgeons, New York, New York; and the Centers for Disease Control and Prevention, Atlanta, Georgia. Requests for Reprints: Gary M. Brittenham, MD, Department of Pediatrics, Columbia University College of Physicians and Surgeons, Harkness Pavilion Room HP 550, 630 West 168th Street, New York, NY 10032. Current Author Addresses: Dr. Brittenham: Department of Pediatrics, Columbia University College of Physicians and Surgeons, Harkness Pavilion Room HP 550, 630 West 168th Street, New York, NY 10032. Dr. Franks: Division of Nutrition and Physical Activity, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Mailstop K-24, 4770 Buford Highway, Atlanta, GA 30341. Dr. Rickles: Division of AIDS, STD, and TB Laboratory Research, National Center for Infectious Diseases, Centers for Disease Control and Prevention, 1600 Clifton Road NE, Atlanta, GA 30333. Note: This article is one of a series of articles comprising an Annals of Internal Medicine supplement entitled “Iron Overload, Public Health, and Genetics.” To view a complete list of the articles included in this supplement, please view its Table of Contents.


Copyright ©2004 by the American College of Physicians


Ann Intern Med. 1998;129(11_Part_2):993-996. doi:10.7326/0003-4819-129-11_Part_2-199812011-00011
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The Working Group on Research Priorities used a formal nominal group technique to identify and prioritize the specific aims of applied research needed to provide the scientific basis for population screening for iron overload disorders.The most important applied research goal was characterization of the natural history of the relation between genotype and phenotype in hereditary hemochromatosis and other iron overload disorders. Three other important research objectives were development of an optimal approach to screening for iron overload; analyses of the cost-effectiveness of screening; and assessment of the ethical, legal, and social implications of screening. To achieve these specific aims, two research studies were recommended as being of the highest priority: a multicenter, cross-sectional, population-based study of the natural history of iron overload and a multicenter, case–control study of patients with disease manifestations potentially attributable to hereditary hemochromatosis in primary care and subspecialty clinics.

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