How Is Hemochromatosis Diagnosed?

Hemochromatosis is diagnosed based on your medical and family history, a physical exam, and diagnostic tests and procedures. The disease is sometimes found during the diagnosis of other diseases or conditions such as arthritis, liver disease, diabetes, heart disease, and impotence.

Specialists Involved

In addition to family doctors or internal medicine specialists, other kinds of doctors may be involved in diagnosing and treating hemochromatosis, including:

• A cardiologist (heart specialist)
• An endocrinologist (gland system specialist)
• A hepatologist (liver specialist)
• A gastroenterologist (digestive tract specialist)
• A hematologist (blood disease specialist)
• A rheumatologist (specialist in diseases of the joints and tissues)

Medical and Family History

Your doctor may ask questions to learn more about your past medical history, current symptoms, and family medical history. Your doctor may ask questions about:

• Current symptoms, including when they started and how severe they are
• Possible causes of secondary hemochromatosis, such as taking too much iron (pills or injections) or vitamin C
• Whether other members of your family have hemochromatosis
• Whether other members of your family have a history of other medical problems or diseases related to hemochromatosis

Physical Exam

During the physical exam, your doctor will listen to your heart for abnormal rhythms and check for arthritis, abnormal skin color, and an enlarged liver.

Diagnostic Tests and Procedures

Based on the results of your medical history and physical exam, your doctor may order one or several tests to diagnose hemochromatosis.

Blood Tests

Blood tests are used to find out how much iron is in the body. But blood tests alone are not enough to diagnose hemochromatosis. Types of blood tests that may be used include:

• Transferrin saturation (TS). A high TS level in your blood may indicate that you have hemochromatosis.
• Serum ferritin level. The serum ferritin level may be tested if the TS level is high. A high serum ferritin level may mean that iron is building up in the organs of the body. If there is iron buildup in your organs, you may have hemochromatosis.
• Serum iron level. This test checks the level of iron in your blood. The iron level in your blood can be normal even if you have hemochromatosis.
• Liver function tests. These blood tests may be done to check the level of damage to your liver. Liver damage may indicate that you have hemochromatosis. If you have been diagnosed with hemochromatosis, these blood tests may show how far the disease has advanced.

Quantitative Phlebotomy (Blood Removal)

This test may be done to check a diagnosis of hemochromatosis. A phlebotomy (fle-BOT-o-me) is a process similar to giving blood. You will usually have a series of several phlebotomies. Your blood is tested to show whether blood removal is helping to lower iron levels.

Liver Biopsy

A liver biopsy can show how much iron is in your liver and can diagnose liver damage (fibrosis, cirrhosis, and cancer). During a liver biopsy, your doctor numbs the area and then removes a small sample of liver tissue using a needle. The tissue is then examined under a microscope. Liver biopsies are used less often in diagnosis than they used to be.

Magnetic Resonance Imaging

Magnetic resonance imaging (MRI) is a test that can show the amount of iron in your liver. MRI uses magnetic fields to show images of organs and structures inside the body. It provides more detail than an x ray for some kinds of problems.

Superconducting Quantum Interference Device

Superconducting quantum interference device (SQuID), like MRI, measures the amount of iron in your liver. It is available at only a few medical centers.

Genetic Testing

Genetic testing can be done to show whether you have zero, one, or two copies of the abnormal HFE gene. The test is accurate in more than 8 out of 10 cases. It can identify people who have two copies of the abnormal gene, but it cannot predict which of these people will go on to develop iron overload disease. The most common HFE mutation is called C282Y, and a less frequent one is H63D. The test may overlook people who have hemochromatosis caused by other types of genes.

Genetic testing can be carried out in two ways. A cheek test is when a cotton swab is used to collect cells from the inside of the mouth. A whole blood test is when a sample of blood is drawn from a vein in the arm to be tested.

Genetic testing may be done with genetic counseling for couples planning to have a family when one or both parents have hemochromatosis or have a family history of the disease. The purpose is to show:

• If one or both parent(s) carry the abnormal HFE gene
• The likelihood of passing the HFE genes to their children