Your doctor will ask you details about your medical history, will examine you, and will order several tests to measure the amount of iron in your blood. A liver biopsy may be recommended to confirm the diagnosis. In this procedure, you will receive a local anesthetic and a small piece of tissue from your liver will be removed for analysis in a laboratory. Some experts recommend that all adults have a test to measure the amount of iron in the blood as a screen for this disorder. However, there is no general agreement that this approach is useful.
Genetic testing is available for two of the more common genes associated with this disorder (found in up to 90% of people with hemochromatosis), but not everyone who has the genes develops the disease. For people with an abnormally high level of iron in the blood and a positive genetic test, liver biopsy may be unnecessary.