In order to diagnose hemochromatosis, your doctor will likely begin by performing a physical exam and asking about your symptoms. Certain tests may be ordered to help confirm the diagnosis or rule out other conditions. For example, blood tests can show if too much iron is being stored in the body. A liver biopsy will also show a buildup of iron and any associated damage.
When considering a diagnosis of hemochromatosis, your healthcare provider will probably ask a number of questions about your medical history, perform a physical examination, and order routine blood tests to help rule out other conditions that could be causing the symptoms.
Blood tests can determine if the amount of iron stored in the body is too high. The transferrin saturation test determines how much iron is bound to the protein that carries iron in the blood. The total iron binding capacity (TIBC) test measures how well your blood can transport iron. The serum ferritin test shows the level of iron in the liver.
If any of these tests shows higher-than-normal levels of iron in the body, healthcare providers can order a special blood test to detect the HFE mutation, which will help confirm the diagnosis of hemochromatosis. (If the mutation is not present, hereditary hemochromatosis is not the reason for the iron buildup, and your healthcare provider will look for other causes.)