Tests

The diagnosis of hemochromatosis is made after a thorough patient history, physical examination, and routine blood tests to determine if other conditions are causing symptoms. Patients who have symptoms suggestive of hemochromatosis, such as enlargement of the liver, cardiac arrhythmias or insufficiency, diabetes mellitus, abnormal liver function tests, bronze skin, or an abnormal drop in sex hormones, should be evaluated for the disease.

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Generally, blood tests can determine whether the amount of iron stored in the body is too high. The transferrin saturation test will show how much iron is bound to the protein that carries iron to the blood. The total iron binding capacity test measures how well the blood transports iron. The serum ferritin test shows the level of iron in the liver. The presence of elevated transferrin saturation along with elevated serum ferritin is associated with early hemochromatosis. If a high value of serum iron is also found, that combination suggests hemochromatosis.

A liver biopsy is recommended in patients with elevations of both serum transferrin saturation and serum ferritin to evaluate the extent of iron overload and liver damage. A tiny piece of liver tissue is removed and examined with a microscope. Biopsy remains the gold standard for quantifying iron and estimating an individual's prognosis.

Computed tomography or magnetic resonance imaging can also detect iron overload in the liver. But their sensitivity is low, and they do not provide information on the degree of liver damage.

A doctor may order a special blood test to detect the HFE genetic mutation. Finding a C282Y/C282Y mutation in a patient with iron overload confirms the diagnosis of hemochromatosis, but it does not diagnose cirrhosis or suggest a patient's prognosis. If there is no genetic mutation, the doctor will look for other causes for the iron buildup.

Despite its prevalence, hemochromatosis is considered rare, and doctors may not think to test for it. Thus, the disease is often not diagnosed or treated. The initial symptoms can be diverse and vague and can mimic the symptoms of many other diseases. Doctors also may focus on the conditions caused by hemochromatosis—arthritis, liver disease, heart disease, or diabetes—rather than on the underlying iron overload. However, if the iron overload caused by hemochromatosis is diagnosed and treated before organ damage has occurred, a person can live a normal, healthy life.