Background   In the United States iron overload is primarily due to a genetic disorder known as hereditary hemochromatosis. Hemochromatosis is characterized by lifelong excessive absorption of iron from the diet, with iron accumulating in body organs, eventually causing inflammation and damage.  Serious and even fatal health effects can result, including cirrhosis of the liver, liver cancer, heart abnormalities (leading to heart failure), diabetes, impotence, and arthritis.  Approximately one of every 200 to 400 people is affected, while one in 10 is a carrier making this one of the most common of the known genetic disorders in the U.S.  The availability of diagnostic tests for serum iron

measures and the recent discoveries of the genetic mutations responsible for hemochromatosis provide the potential for early detection.  However, the social, ethical, and legal implications of such genetic testing and screening are only beginning to be explored.

Treatment by periodic removal of iron (by blood removal, or phlebotomy) is safe and effective, and can lead to a normal life expectancy if initiated before organ damage has occurred.  Early detection and treatment for this genetic condition can lessen morbidity and mortality, and in some cases prevent the onset of disease. Therefore, early detection of hemochromatosis represents a major chronic disease prevention opportunity. Hereditary hemochromatosis is often referred to as a model for formulating policy decisions about genetic-associated diseases.  

CDC Program Activities  

	Examine laboratory quality assurance for serum iron measures
	Validate diagnostic tests and assess their usefulness in diagnosis and screening
	Educate health care providers about the importance of early diagnosis and treatment
	Educate patients about hemochromatosis and the need to test close blood relatives for this genetic condition
	Characterize the prevalence of hemochromatosis and associated morbidity and mortality

Priorities for 2001
 

	Create web-based hemochromatosis teaching module for health care providers
	Create an on-line patient education brochure
	Complete inter-laboratory comparisons for serum iron measures
	Recommend diagnostic test cut-points
	Examine appropriateness of universal screening
	Expand prevalence estimates for hemochromatosis and its associated morbidity and mortality in the US
	Describe clinical course of illness

For more information contact the Division of Nutrition and Physical Activity