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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
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 liver. 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 blood tests are needed to diagnose the disorder. You may need to have the tests repeated for the most accurate results.
Additional testing
To confirm a diagnosis of hereditary hemochromatosis, your doctor may suggest other tests, including:
- Testing for gene mutations. Your doctor can test a sample of your DNA for mutations in the HFE gene. This test can help confirm a diagnosis of hereditary hemochromatosis. If you're considering genetic testing for hemochromatosis, discuss the pros and cons with your doctor or a genetic counselor.
- Removing a sample of liver tissue for testing. During a liver biopsy, 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.
Screening healthy people for hemochromatosis
In some cases, your doctor may recommend a blood test to determine if you have hemochromatosis even if you don't have any signs or symptoms. People considered to have a high risk of hemochromatosis may undergo screening tests to determine whether they have the condition before complications can occur. If you're concerned about your risk of hemochromatosis, talk to your doctor about your risk factors.
- Bacon BR, et al. Hemochromatosis. In: Feldman M, et al. Sleisinger and Fordtran's Gastrointestinal and Liver Disease. 9th ed. Philadelphia, Pa.: Saunders; 2010. http://www.mdconsult.com/book/player/linkTo?type=bookHome&isbn=978-1-4160-6189-2&eid=4-u1.0-B978-1-4160-6189-2..X0001-7--TOP&uniq=200844987-3. Accessed Aug. 17, 2010.
- Hemochromatosis. National Institute of Diabetes and Digestive and Kidney Diseases. http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm. Accessed Aug. 17, 2010.
- Hemochromatosis. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/hemo/hemo_all.html. Accessed Aug. 19, 2010.
- Naqvi BH, et al. Hemochromatosis. In: Ferri FF. Ferri's Clinical Advisor 2011. Philadelphia, Pa.: Mosby; 2010. http://www.mdconsult.com/book/player/book.do?method=display&type=aboutPage&decorator=header&eid=4-u1.0-B978-0-323-05610-6..C2009-0-38600-6--TOP&isbn=978-0-323-05610-6&uniq=210978719. Accessed Aug. 17, 2010.
- Desferal (prescribing information). East Hanover, N.J.: Novartis; 2009. http://www.accessdata.fda.gov/drugsatfda_docs/label/2009/016267s045lbl.pdf. Accessed Aug. 19, 2010.
- Exjade (prescribing information). East Hanover, N.J.: Novartis; 2010. http://www.accessdata.fda.gov/drugsatfda_docs/label/2010/021882s010lbl.pdf. Accessed Aug. 18, 2010.
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