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Screening for Iron Overload due to Hereditary Hemochromatosis

Reyes, Michele, PhD, and Muin J. Khoury, MD, PhD
Dr. Reyes is the hemochromatosis team leader, Division of Nutrition and Physical Activity, National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP), CDC. Dr. Khoury is the Director of Genetics and Disease Prevention, National Center for Environmental Health, CDC

two out of every five Americans have HH

E arly identification of people with evidence of iron overload represents a major chronic disease
prevention opportunity.  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. In fact, it has been suggested that hereditary hemocromatosis serve as a model for formulating policy decisions about genetic-associated diseases, in particular for decisions about the usefulness of genetic screening.  However, at this time, CDC does not recommend universal screening for hereditary hemochromatosis because of many unresolved issues1,2.  Of utmost concern is the uncertainty about what proportion of people with genetic risk or biochemical evidence of iron overload will develop the complications of iron overload. Although HFE mutation testing can identify those relatives who carry susceptible genotypes, testing iron status directly is not only more relevant clinically than genetic testing but also avoids the possibility of adverse genetic discrimination.1  

CDC currently recommends iron overload testing for persons who have a close blood relative with hereditary hemochromatosis, since they have a substantial risk of developing clinical complications and represent an ideal group for targeted prevention efforts.  In addition, persons experiencing the unexplained symptoms compatible with hemochromatosis (these symptoms include severe weakness or fatigue; unexplained joint or abdominal pain; signs of liver disease, diabetes, or heart problems; impotence; infertility; and loss of menstrual periods) should also be tested. 2   Testing to exclude other causes of these medical problems should also be performed.  Persons with elevated iron or liver function measures should be monitored by their health care provider.

Strategies are needed to disseminate information to family members about their genetic risk and to aid their efforts to be tested. This challenge must be accomplished in the course of patient care.  Educational efforts are needed to heighten awareness of the genetics of iron overload and prevention opportunities among family members. To this end, CDC, in collaboration with other partners, is developing a national education campaign to heighten health care providers’ awareness of the need for early diagnosis and treatment of iron overload due to hereditary hemochromatosis.


 

1.      Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, et al.  Hereditary hemochromatosis.  Gene discovery and its implications for population-based screening.  JAMA 1998; 280(2): 172-8. 

2.      Cogswell ME, Burke W, McDonnell SM, Franks AL. Screening for hemochromatosis. A public health perspective. Am J Prev Med 1999; 16(2):134-140.

 

For more information contact the Division of Nutrition and Physical Activity


This page last updated on August 17, 2004