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Can Fam Physician. 2002 Aug;48:1326-33.

Hemochromatosis. Common genes, uncommon illness?

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  • 1London Health Sciences Centre, London, Ont.



To increase family physicians' awareness of the prevalence of hemochromatosis and to suggest strategies for diagnosis and management of hemochromatosis with the goal of decreasing the development of associated life-threatening conditions.


A MEDLINE search from January 1966 to January 2002 using the MeSH term hemochromatosis/therapy found no randomized controlled trials. A further search from January 1990 to January 2002, using the heading hemochromatosis and subheadings diagnosis, epidemiology, genetics, and therapy, found articles with level II evidence (case-control and cross-sectional studies) and level III evidence (descriptive studies and reports from expert committees). Articles were selected based on clinical relevance.


Hemochromatosis is the most common hereditary condition in populations of Northern European descent, affecting three to five people per thousand. Many of these people remain undiagnosed with this condition. The iron overload associated with hemochromatosis can lead to serious, life-threatening conditions, such as diabetes, hepatic cirrhosis, primary liver cancer, and cardiomyopathy. Family physicians can screen patients they suspect are at risk of hemochromatosis with simple indirect serum iron measurements (transferrin saturation and serum ferritin) and with widely available genetic tests (C282Y and H63D). Studies of families can help uncover further cases of hemochromatosis; population screening is currently under study.


Family physicians can facilitate early diagnosis of hemochromatosis by maintaining a high index of suspicion in patients with early signs or symptoms or in high-risk groups, and screening these patients for hemochromatosis.

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