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Screening for Hemochromatosis in Primary Care Settings

Sharon M. McDonnell, MD, MPH; Pradyumna D. Phatak, MD; Vincent Felitti, MD; Alexander Hover, MD; and Gordon D. McLaren, MD
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From the Centers for Disease Control and Prevention, Atlanta, Georgia; Rochester General Hospital, Rochester, New York; Kaiser Permanente Medical Care Program, San Diego, California; St. John's Health System, Springfield, Missouri; and the Veterans Affairs Medical Center and University of North Dakota School of Medicine and Health Sciences, Fargo, North Dakota. Acknowledgments: The authors thank the primary care physicians at Rochester General Hospital, Rochester, New York; Kaiser Permanente, San Diego, California; the Veterans Affairs Medical Center, Fargo, North Dakota; and the Premier Health Plan and St. John's Health Regional Health System, Springfield, Missouri. They also thank the Greene County Public Health Unit and the Greene County Medical Society (particularly Dr. Jim Blaine of Springfield, Missouri); the four screening programs could not have been conducted without their participation and support. They also thank the institutional review board of the Centers for Disease Control and Prevention for its patience and guidance. Grant Support: In part by grant RO1 HS07616 from the Agency for Health Care Policy and Research, the Centers for Disease Control and Prevention, and the Department of Veterans Affairs. Requests for Reprints: Sharon McDonnell, MD, MPH, Epidemiology Program Office, Division of International Health, Mailstop C-08, Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30303; e-mail, sem0@cdc.gov. Current Author Addresses: Dr. McDonnell: Centers for Disease Control and Prevention, Epidemiology Program Office, Division of International Health, Mailstop C-08, 1600 Clifton Road, Atlanta, GA 30303. Dr. Phatak: Hematology Unit, Mary M. Gooley Hemophilia Center, Inc., and Department of Medicine, Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621. Dr. Felitti: Kaiser Permanente Medical Care Program, 7060 Clairemont Mesa Boulevard, San Diego, CA 92111. Dr. Hover: St. John's Health System, 3231 South National Avenue, Springfield, MO 65807. Dr. McLaren: Hematology/Oncology Section, (11/111-H) Veterans Affairs Medical Center, 5901 East 7th Street, Long Beach, CA 90822. 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):962-970. doi:10.7326/0003-4819-129-11_Part_2-199812011-00007
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Interest in including screening for hemochromatosis in the routine medical care of adults has grown in recent years.In March 1997, at a meeting on iron overload at the Centers for Disease Control and Prevention, the directors of four hemochromatosis screening programs described the major challenges that they faced and the lessons that they learned in implementing their programs. Seven issues were consistently described as important challenges: 1) changes in case definitions of hemochromatosis, 2) selection of screening threshold values and identification of false-positive cases, 3) variability and lack of standardization in screening test measurements, 4) physician education, 5) informed consent and concerns about medical and genetic discrimination, 6) patient compliance with screening and therapy, and 7) incidental detection of iron deficiency. The two programs that have been completed report a prevalence of iron overload from hemochromatosis of 4.2 to 4.5 per 1000 persons screened; this is consistent with findings in the recent literature. All programs report that screening is feasible and propose that hemochromatosis be defined by repeated elevated serum transferrin saturation values (with or without DNA test results) rather than by the clinical outcome of excessive iron in tissue. The goal of screening programs is to diagnose iron status disorders, particularly hemochromatosis, before they lead to iron overload and chronic disease states. Further research is needed on the ability of genetic and phenotypic tests to predict the clinical expression of hemochromatosis. The experiences outlined in this report highlight practical issues that need to be addressed when iron status screening for hemochromatosis is implemented. It is hoped that this information will facilitate similar efforts in other health care settings.

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