Genomics|Info|Perspectives|Hemochromatosis

Researching the weekly update, OGDP finds scientific literature that reports on discoveries of genetic variants, related disease outcomes, and the complex social, legal, and ethical issues surrounding genetic discoveries. A Public Health Perspective focuses on a single topic and provides you with information relevant to public health practice.

This week we are examining the public health aspects of Hereditary Hemochromatosis (April 2001)

"Early detection of iron overload disease represents a major chronic disease prevention opportunity. Detection and treatment (phlebotomy) of iron overload, early in the course of the illness, can substantially reduce the severity of symptoms, organ damage, and death from associated chronic diseases."

David Satcher, MD, PhD
Assistant Secretary for Health and U.S. Surgeon General

This Public Health Perspective: Hereditary Hemochromatosis was a collaborative effort by the CDC's Office of Genomics and Disease Prevention and members of the Hemochromatosis team at the Division of Nutrition and Physical Activity at CDC's National Center for Chronic Disease Prevention and Health Promotion. Direct additional questions and inquires about hemochromatosis to Division of Nutrition and Physical Activity .

Public Health Perspective Menu

	July 2002 Update
	Efforts to Advance the Appropriate Use of DNA-based Testing for Hemochromatosis

	The Public Health Perspective
	Screening for Iron Overload due to Hereditary Hemochromatosis Michele Reyes, PhD and Muin J. Khoury, MD, PhD. "Because iron loading due to hereditary hemochromatosis is common and can be effectively treated with periodic phlebotomy, both the medical community and patient support groups have advocated population screening... However, at this time, CDC does not recommend universal screening for hereditary hemochromatosis because of many unresolved issues." Excerpts from "Genetics and Public Health The Future is Now" (12 minutes) Excerpts from a one hour webcast, May 4th, 2000, University of North Carolina/CDC Public Health Grand Rounds, featuring a case study in hemochromatosis including an interview with a HH patient, his wife and physician as well as a discussion of HH and public health from a panel experts (in order of appearance) including: Hugh H. Tilson, MD, DrPH , Clinical Professor, Epidemiology and Health Policy, School of Public Health, University of North Carolina at Chapel Hil William L. Roper, MD, MPH , Dean, School of Public Health, University of North Carolina at Chapel Hill Wylie Burke, MD, PhD , Chair, Department of Medical History and Ethics, University of Washington, Seattle Vincent J. Felliti, MD, FACP , Dept. of Preventive Medicine, So. California Permanente Medical Group Muin J. Khoury, MD, PhD , Director, Office of Genomics and Disease Prevention The entire one hour webcast can be seen on the UNC website Genetics and Public Health: The Future is Now Realplayer is required to view either video. Download here

	Facts About Hemochromatosis
	Overview of Hemochromatosis National Center for Chronic Disease Prevention and Health Promotion Division of Nutrition and Physical Activity, CDC Hemochromatosis fact sheet New South Wales Genetics Education Program Hemochromatosis - Questions and Answers National Center for Chronic Disease Prevention and Health Promotion Division of Nutrition and Physical Activity, CDC

	Publications
	Registration Required Clinical haemochromatosis in HFE mutation carriers Beutler, E Lancet 2002 Aug;360(9330) Penetrance of HFE-related hemochromatosis in perspective. Bassett, M.L., et al Hepatology, 2002 Aug;36(2):500-503 Penetrance of 845G-->A (C282Y) HFE hereditary haemochromatosis mutation in the USA E-journal Report and Summary by Katheryn Thomas, Rollins School of Public Health, Emory University (April 2002) Lancet 2002;359:211-218 Hemochromatosis at the intersection of classical medicine and molecular biology. Brissot, P C R Acad Sci III 2001 Sep;324:9795-804 Prevalence of C282Y and H63D Mutations in the Hemochromatosis (HFE) Gene in the United States K. K. Steinberg, et al JAMA. 2001; 285:2216-2222 Hemochromatosis-associated Morbidity in the United States: An analysis of the National Hospital Discharge Survey, 1979 -1997 Brown, A. Genetics in Medicine , Mar/Apr 2001, 3(2). Iron Overload, Public Health and Genetics Annals of Internal Medicine Supplement (1998) featuring several articles on diagnosis, management, epidemiology and policy Hereditary Hemochromatosis: Preventing Chronic Effects of this Underdiagnosed Disorder Sharon M. McDonnell and David Witte Postgrad Med Journal, 1997 Dec; 102(6):83-85 HFE Gene and Hereditary Hemochromatosis A HuGE (Human Genome Epidemiology) Review Public Health Strategies to Prevent the Complications of Hemochromatosis Chap. 23 - Part 4: Developing, Implementing, and Evaluating Population Interventions Burke, W, et al. Iron-overload disorder often goes undiagnosed, too (Apr 13, 2001) USA today reports, "Ever since the gene for hemochromatosis was discovered five years ago, public health experts have debated the merits of screening adults for the disease." Study measures frequency of blood-disorder defect (May 2) Reuters Health reports from CDC, "Gene analysis of a national population sample confirms previous estimates of the frequency of the gene defects linked to hereditary hemochromatosis, a common disorder that causes the body to absorb and store too much iron."

	CDC Hereditary Hemochromatosis Activities
	Iron Overload Disease due to Hereditary Hemochromatosis The National Center for Chronic Disease Prevention and Division of Nutrition and Physical Activity Hemochromatosis : A Pamphlet for Patients

	Slide
	CDC Priorities in Hemochromatosis, 2001 preview now - download now

	Hemochromatosis Groups and Organizations
	These links are provided only as a resource for our readers. This listing does not necessarily represent the opinions of CDC or constitute an endorsement by CDC. The Genetic Alliance Iron Disorders Institute The American Hemochromatosis Society

	Reader's Forum
	The Reader's Forum is an opportunity to share your thoughts about Hereditary Hemochromatosis: A Public Health Perspective. Please participate by sending us your comments on this or any in our series of Public Health Perspectives. Reader's comments