PERSPECTIVE
Hereditary Hemochromatosis: Time for Targeted Screening
Pradyumna D. Phatak, MD;
Herbert L. Bonkovsky, MD; and
Kris V. Kowdley, MD
19 August 2008 | Volume 149 Issue 4 | Pages 270-272
The discovery of the HFE gene in 1996 heralded a decade of major advances in the understanding of the mechanisms that control iron absorption and body iron stores. A genetic definition of the common form of hereditary hemochromatosis became possible, and testing for the common causative HFE mutations is now widely available in clinical laboratories. Several population screening studies have confirmed that disease penetrance in HFE-related hereditary hemochromatosis is lower than previously believed, making universal population-based screening for this disorder unattractive. However, hereditary hemochromatosis may still cause morbidity and mortality because of iron overload. Early detection and use of appropriate therapy can prevent these manifestations and can only be achieved by targeted case finding. In this article, the authors draw attention again to hereditary hemochromatosis as a cause of preventable organ dysfunction and propose targeted case finding for Caucasian men of Northern European ancestry.
Author and Article Information
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From Rochester General Hospital, Rochester, New York; Carolinas Health Care System, Charlotte, North Carolina; and Virginia Mason Medical Center and the University of Washington School of Medicine, Seattle, Washington.
Grant Support: In part by the National Institutes of Health (grants K02957 and RO1-DK-38825).
Potential Financial Conflicts of Interest: None disclosed.
Requests for Single Reprints: Kris V. Kowdley, MD, Virginia Mason Medical Center, 1201 9th Avenue, Seattle, WA 98101.
Current Author Addresses: Dr. Phatak: Rochester General Hospital, 1425 Portland Avenue, Rochester, NY 14621.
Dr. Bonkovsky: Carolinas Health Care System, 1000 Blythe Boulevard, Charlotte, NC 28232.
Dr. Kowdley: Virginia Mason Medical Center, 1201 9th Avenue, Seattle, WA 98101.
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