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You Are Here » Hemochromatosis » Testing for Hemochromatosis
Hemochromatosis
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Testing for Hemochromatosis
Screening for hemochromatosis - testing people who have no symptoms - is not a routine part of medical care or checkups. However, researchers and public health officials do have some suggestions.
- Siblings of people who have hemochromatosis should have their blood tested to see if they have the disease or are carriers.
- Parents, children, and other close relatives of people who have the disease should consider being tested.
- Doctors should consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes, impotence, and diabetes because these conditions may result from hemochromatosis.
Since the genetic defect is common and early detection and treatment are so effective, some researchers and education and advocacy groups have suggested that widespread screening for hemochromatosis would be cost-effective and should be conducted. However, a simple, inexpensive, and accurate test for routine screening does not yet exist and the available options have limitations.
For example, the genetic test provides a definitive diagnosis, but it is expensive. The blood test for transferrin saturation is widely available and relatively inexpensive, but it may have to be done twice with careful handling to confirm a diagnosis and show that the result is the consequence of iron overload.
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References:
National Digestive Diseases Information Clearinghouse (NDDIC)
April 2007
digestive.niddk.nih.gov
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