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Diagnosis and Management |

Management of Hemochromatosis

James C. Barton, MD; Sharon M. McDonnell, MD, MPH; Paul C. Adams, MD; Pierre Brissot, MD; Lawrie W. Powell, MD; Corwin Q. Edwards, MD; James D. Cook, MD; Kris V. Kowdley, MD, The Hemochromatosis Management Working Group*
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From Southern Iron Overload Disorders Center, Birmingham, Alabama; Centers for Disease Control and Prevention, Atlanta, Georgia; London Health Sciences Centre, London, Ontario, Canada; Hopital Universitaire Pontchaillou, Rennes, France; University of Queensland, Brisbane, Australia; University of Utah College of Medicine and LDS Hospital, Salt Lake City, Utah; University of Kansas Medical Center, Kansas City, Kansas; and University of Washington, Seattle, Washington. *The Hemochromatosis Management Working Group also includes Linda Cocchiarella, MD, MSc; James S. Dooley, MD; Vincent Fellitti, MD; David Brandhagen, MD; Victor Herbert, MD, JD; and Margit A. Krikker, MD. Acknowledgments: The authors thank Dr. Anne C. Looker of the National Center for Health Statistics for reviews of data on age, sex, and serum iron variables from the National Health and Nutrition Examination Survey. Grant Support: In part by Maternal and Child Health Branch, Division of Nutrition, Centers for Disease Control and Prevention (Atlanta, Georgia) and Southern Iron Disorders Center (Birmingham, Alabama). Requests for Reprints: James C. Barton, MD, Southern Iron Disorders Center, Suite G-105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35209; e-mail, ironmd@mem.po.com. Current Author Addresses: Dr. Barton: Southern Iron Overload Disorders Center, suite G-105, 2022 Brookwood Medical Center Drive, Birmingham, AL 35209. Dr. McDonnell: Centers for Disease Control and Prevention, Division of Nutrition and Physical Activity, 4770 Buford Highway Mailstop K-25, Atlanta, GA 30341-3724. Dr. Adams: Department of Medicine, London Health Sciences Centre, University Campus, 339 Windermere Road, PO Box 5339, London, Ontario N6A 5A5, Canada. Dr. Brissot: Clinique des Maladies du Foie, Unite INSERM U49, Hopital Universitaire Pontchaillou, 35033 Rennes, France. Dr. Powell: The University of Queensland, Queensland Institute of Medical Research, The Bancroft Center, 300 Herston Road, Brisbane 4029 QLD, Australia. Dr. Edwards: Department of Medicine, University of Utah College of Medicine and LDS Hospital, Outpatient Clinic, 325 8th Avenue, Salt Lake City, UT 84143. Dr. Cook: Division of Hematology, University of Kansas Medical Center, 39th and Rainbow, Kansas City, KS 66103. Dr. Kowdley: Division of Gastroenterology and Hepatology, RG-24, University of Washington, Seattle, WA 98195. 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):932-939. doi:10.7326/0003-4819-129-11_Part_2-199812011-00003
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The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management.Therapeutic phlebotomy is used to remove excess iron and maintain low normal body iron stores, and it should be initiated in men with serum ferritin levels of 300 µg/L or more and in women with serum ferritin levels of 200 µg/L or more, regardless of the presence or absence of symptoms. Typically, therapeutic phlebotomy consists of 1) removal of 1 unit [450 to 500 mL] of blood weekly until the serum ferritin level is 10 to 20 µg/L and 2) maintenance of the serum ferritin level at 50 µg/L or less thereafter by periodic removal of blood. Hyperferritinemia attributable to iron overload is resolved by therapeutic phlebotomy. When applied before iron overload becomes severe, this treatment also prevents complications of iron overload, including hepatic cirrhosis, primary liver cancer, diabetes mellitus, hypogonadotrophic hypogonadism, joint disease, and cardiomyopathy. In patients with established iron overload disease, weakness, fatigue, increased hepatic enzyme concentrations, right upper quadrant pain, and hyperpigmentation are often substantially alleviated by therapeutic phlebotomy. Patients with liver disease, joint disease, diabetes mellitus and other endocrinopathic abnormalities, and cardiac abnormalities often require additional, specific management. Dietary management of hemochromatosis includes avoidance of medicinal iron, mineral supplements, excess vitamin C, and uncooked sea-foods. This can reduce the rate of iron reaccumulation; reduce retention of nonferrous metals; and help reduce complications of liver disease, diabetes mellitus, and Vibrio infection. This comprehensive approach to the management of hemochromatosis can decrease the frequency and severity of iron overload, improve quality of life, and increase longevity.





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