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Hemochromatosis Screening

Hemochromatosis screening is not usually performed unless there is reason to believe that a patient could have it. In addition, there are limitations to current testing methods -- namely, they are either expensive or may have to be repeated. A person should consider screening for hemochromatosis if he or she has a sibling, parent, or other close relative with the disease.

Hemochromatosis Screening: An Overview

Screening for hemochromatosis (testing people who have no symptoms of hemochromatosis) is not a routine part of medical care or checkups. However, researchers and public health officials do have some suggestions:
 
  • Brothers and sisters of people who have hemochromatosis should have their blood tested to see if they have the disease or are carriers of the hemochromatosis gene
  • Parents, children, and other close relatives of people who have the disease should consider hemochromatosis screening
  • 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 hemochromatosis diagnosis and to show that it is the consequence of iron overload.
 

Hemochromatosis Disease

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