People who are at high risk of hemochromatosis because of family history should be tested to see if they have the disease or are carriers. The disease has a long latency period, and early diagnosis can prevent serious organ damage from it and from associated illnesses, such as pancreatic cancer and diabetes.
Siblings of people who have hemochromatosis should have their blood tested. Parents, children, or close relatives of people with the disease should consider being tested. Screening should start between the ages of 18 and 30 (when iron levels may be abnormal but serious organ damage has not occurred).
Initial blood tests should include measuring the serum iron, the saturation of transferrin, and the concentration of ferritin—blood chemicals involved in the transport and storage of iron. But although the serum iron and transferrin test is widely available and relatively inexpensive, it may have to be done twice with careful handling to confirm a diagnosis. These tests need to be performed while patient is in a fasting state (has had nothing to eat or drink overnight).
The genetic test provides a definitive diagnosis, but it is expensive, and screening people genetically has been controversial (individuals could face discrimination from health and life insurers if identified as having the genetic mutation, and the genetic test is not always predictive of illness). Screening for the C282Y mutation in first-degree relatives of those with the disease appears to be cost-effective. And people suffering from continuing joint pain, severe or prolonged fatigue, elevated liver enzymes, heart disease, diabetes, or impotence may want to ask their physicians for the genetic test, since these conditions can result from the disease.
Last reviewed on 6/4/09
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