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Iron Overload, Public Health, and Genetics: Evaluating the Evidence for Hemochromatosis Screening

Mary E. Cogswell, DrPH; Sharon M. McDonnell, MD, MPH; Muin J. Khoury, MD, PhD; Adele L. Franks, MD; Wylie Burke, MD, PhD; and Gary Brittenham, MD
[+] Article and Author Information

From the Centers for Disease Control and Prevention, Atlanta, Georgia; University of Washington, Seattle, Washington; and Case Western Reserve University School of Medicine, Cleveland, Ohio. Acknowledgments: The authors thank Laurence Grummer-Strawn, PhD, for helpful comments on an earlier version of this manuscript. Requests for Reprints: Mary E. Cogswell, DrPH, Centers for Disease Control and Prevention, Mailstop K-25, 4770 Buford Highway, NE, Atlanta, GA 30341; e-mail, mec0@cdc.gov. Current Author Addresses: Drs. Cogswell and McDonnell: Centers for Disease Control and Prevention, Mailstop K-25, 4770 Buford Highway, NE, Atlanta, GA 30341. Dr. Khoury: Centers for Disease Control and Prevention, Mailstop K-28, 4770 Buford Highway, NE, Atlanta, GA 30345. Dr. Franks: Centers for Disease Control and Prevention, Mailstop K-24, 4770 Buford Highway, NE, Atlanta, GA 30345. Dr. Burke: Women's Health Care Center, University of Washington, 4245 Roosevelt Way, NE, Seattle, WA 98105. Dr. Brittenham: Department of Pediatrics, Columbia University, Harkness Pavillion HP-550, 180 Fort Washington Avenue, New York, NY 10032. 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):971-979. doi:10.7326/0003-4819-129-11_Part_2-199812011-00008
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Population screening for hemochromatosis done by using the transferrin saturation test has been advocated by experts to permit the initiation of therapeutic phlebotomy before the onset of clinical disease.The discovery of a gene associated with hemochromatosis has made DNA testing another option for screening and diagnosis. In this paper, U.S. Preventive Services Task Force criteria are used to evaluate the evidence for the usefulness of population screening done by using iron measures or genetic testing.

Published clinical research offers little evidence to suggest that population screening for hemochromatosis done by using genetic testing improves clinical outcomes.Although one recently discovered mutation, C282Y, accounts for 60% to 92% of cases of the disease in series of patients with hemochromatosis, uncertainties remain about the clinical penetrance of various genotypes; the accuracy of genetic testing; and the ethical, legal, and social effects of genetic testing. Before population screening for hemochromatosis done by using transferrin saturation testing can be recommended, laboratory standardization needs to be addressed and questions about risk for clinical disease in asymptomatic persons with mutations or early biochemical expression of disease require resolution. Evidence from case series suggests that hemochromatosis may be associated with liver cancer, other liver disease, diabetes, bradyarrhythmias, and arthritis. In all studies but one, however, estimation of the magnitude and significance of this risk is limited by lack of adequate comparison groups. The need for population data to answer questions about penetrance among asymptomatic persons should not impede efforts to increase the detection and treatment of hemochromatosis in persons found to have elevated iron measures, a family history of hemochromatosis, or consistent early signs and symptoms of the disease.

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