Researching the weekly update, NOPHG 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 National Office of Public Health Genomics 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.

• Efforts to Advance the Appropriate Use of DNA-based Testing for Hemochromatosis

•  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, National Office of Public Health Genomics

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

• 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

• Hereditary Hemochromatosis: Perspectives of Public Health, Medical Genetics, and Primary Care
  Giuseppina Imperatore, Genetics in Medicine January 2003; 5 (1): 1-5.

• 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   (no longer available)
  (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."

•  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

• CDC Priorities in Hemochromatosis, 2001
  Download PowerPoint slide now

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  

Provides link to non-governmental sites and does not necessarily represent the views of the Centers  for Disease Control and Prevention.