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Tests and diagnosis
By Mayo Clinic staffHereditary hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue can result from a number of conditions that are more common than hemochromatosis.
Blood tests
At any stage — even before symptoms appear — doctors can detect iron overload with two blood tests:
- Serum transferrin saturation. This test measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45 percent are considered too high.
- Serum ferritin. This test measures the amount of iron stored in your body. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin. Because a number of infectious and inflammatory conditions other than hereditary hemochromatosis can cause elevated ferritin, both tests are needed to diagnose the disorder. You may need the tests repeated for the most accurate results.
Serum transferrin saturation and serum ferritin tests aren't a part of routine medical testing. Public health officials recommend that you be tested for hemochromatosis if you have a parent, child or sibling with the disease, or if you have any of the following signs and symptoms:
- Joint disease
- Severe fatigue
- Heart disease
- Elevated liver enzymes
- Impotence
- Diabetes
Additional testing
Blood tests may also suggest iron overload if you abuse alcohol, have had multiple blood transfusions or have had hepatitis C. To confirm a diagnosis of hereditary hemochromatosis, your doctor may suggest other tests, including:
-
Genetic testing. The discovery of the HFE gene made genetic testing for hemochromatosis possible. This test can help your doctor confirm a diagnosis of hereditary hemochromatosis. Some researchers advocate universal screening for HFE gene mutations. They point out that hemochromatosis is a common condition that can cause serious complications when it's not treated and that a simple, inexpensive and effective treatment exists.
Other doctors, as well as the Centers for Disease Control and Prevention, recommend this type of testing only for adult family members of someone with hemochromatosis. If you're considering genetic testing for hemochromatosis, discuss the pros and cons with your doctor or a genetic counselor.
- Liver biopsy. Until recently, this test was the only way to confirm a diagnosis of hereditary hemochromatosis. During the procedure, your doctor removes a sample of tissue from your liver, using a thin needle. The sample is sent to a laboratory where it's checked for the presence of iron as well as for evidence of liver damage, especially scarring or cirrhosis. Risks of biopsy include bruising, bleeding and infection.
