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Controversies in Internal Medicine |

The Importance of Screening for Hemochromatosis

Suja Dubois, MD; Kris V. Kowdley, MD
Arch Intern Med. 2003;163(20):2424-2426. doi:10.1001/archinte.163.20.2424.
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HEREDITARY HEMOCHROMATOSIS, commonly described as human leukocyte antigen–linked or HFE-associated hemochromatosis, is an inherited disorder of iron metabolism leading to excessive absorption of iron from the gastrointestinal tract.1 Patients with hemochromatosis may develop progressive iron loading in many parenchymal organs, resulting in cirrhosis complicated by liver failure or hepatocellular carcinoma, diabetes, arthropathy, and cardiac disease. Patients with cirrhosis associated with HH have a significantly increased risk of premature mortality. By contrast, patients diagnosed prior to the development of cirrhosis have a normal life expectancy when compared with age- and sex-matched controls.2 Therefore, population screening for HH has been advocated with the goal of identifying patients in the precirrhotic stage of the disease, particularly because noninvasive, sensitive, and specific screening tests are available and because iron depletion therapy is safe and can lead to improved outcomes. Furthermore, the identification of the HFEgene has made possible confirmation of the diagnosis of HH using DNA-based testing for the homozygous C282Y mutation.

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Suja Dubois, MD

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