Hemochromatosis - Diagnosis and treatment (2023)


Hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis.

Many people with the disease don't have any symptoms other than high levels of iron in their blood. Hemochromatosis may be identified because of irregular blood test results after testing is done for other reasons. It also may be revealed when screening family members of people diagnosed with the disease.

Blood tests

The two key tests to detect iron overload are:

  • Serum transferrin saturation. This test measures the amount of iron bound to the protein transferrin that carries iron in your blood. Transferrin saturation values greater than 45% 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 usual, your health care provider may check your serum ferritin.

These blood tests for iron are best performed after you have been fasting. Elevations in one or all of these tests can be found in other disorders. You may need to have the tests repeated for the most accurate results.

Additional testing

Your health care provider may suggest other tests to confirm the diagnosis and to look for other problems:

  • Liver function tests. These tests can help identify liver damage.
  • MRI. An MRI is a fast and noninvasive way to measure the degree of iron overload in your liver.
  • Testing for gene changes. Testing your DNA for changes in the HFE gene is recommended if you have high levels of iron in your blood. If you're considering genetic testing for hemochromatosis, discuss the reasons for and against with your provider or a genetic counselor.
  • Removing a sample of liver tissue for testing. If your provider suspects liver damage, the provider may order a liver biopsy. During a liver biopsy, a sample of tissue is removed from your liver using a thin needle. The sample goes to a lab to be checked for the presence of iron. The lab also looks for evidence of liver damage, especially scarring or cirrhosis. Risks of biopsy include bruising, bleeding and infection.

Screening healthy people for hemochromatosis

Genetic testing is recommended for all parents, siblings and children of anyone diagnosed with hemochromatosis. If a gene change is found in only one parent, then children do not need to be tested.

More Information

  • Genetic testing
  • Liver function tests
  • MRI
  • Needle biopsy


Blood removal

Health care providers can treat hemochromatosis safely and effectively by removing blood from the body on a regular basis. This is similar to donating blood. The process is known as phlebotomy.

The goal of phlebotomy is to lower your iron levels. The amount of blood removed and how often it's removed depend on your age, your overall health and the severity of iron overload.

  • Initial treatment schedule. In the beginning, you may have a pint (about 470 milliliters) of blood taken once or twice a week — usually in a hospital or your provider's office. While you lean back in a chair, a needle is inserted into a vein in your arm. The blood flows from the needle into a tube that's attached to a blood bag. The process of removing blood is referred to as therapeutic blood removal.
  • Maintenance treatment schedule. Once your iron levels go down, blood can be removed less often, typically every 2 to 3 months. Some people may maintain typical iron levels without having any blood taken. Some may need to have blood removed monthly. The schedule depends on how quickly iron builds up in your body.

Treating hemochromatosis can help relieve symptoms of tiredness, stomach pain and skin darkening. It can help prevent serious complications such as liver disease, heart disease and diabetes. If you already have one of these conditions, phlebotomy may slow the progression of the disease. In some cases, it may even reverse it.

Phlebotomy can't reverse cirrhosis or joint pain, but it can slow the progression.

If you have cirrhosis, your health care provider may recommend occasional screening for liver cancer. This usually involves an abdominal ultrasound and CT scan.

Chelation for those who can't undergo blood removal

Phlebotomy may not be an option if you have certain conditions, such as anemia or heart complications. Instead, your provider may recommend a medicine to remove excess iron. The medicine can be injected into your body, or it can be taken as a pill. The medicine binds excess iron, allowing your body to expel iron through your urine or stool in a process that's called chelation (KEE-lay-shun). Chelation is not commonly used in hemochromatosis.

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Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

In addition to therapeutic blood removal, you may further reduce your risk of complications from hemochromatosis if you:

  • Avoid iron supplements and multivitamins containing iron. These can increase your iron levels even more.
  • Avoid vitamin C supplements. Vitamin C increases absorption of iron. There's usually no need to restrict vitamin C in your diet, however.
  • Avoid alcohol. Alcohol greatly increases the risk of liver damage in people with hemochromatosis. If you have hemochromatosis and you already have liver disease, avoid alcohol completely.
  • Avoid eating raw fish and shellfish. People with hemochromatosis are at risk of infections, particularly those caused by certain bacteria in raw fish and shellfish.

Additional dietary changes generally aren't required for people receiving blood removal treatment.

Preparing for your appointment

Make an appointment with your primary health care provider if you have any symptoms that worry you. You may be referred to a specialist in digestive diseases, called a gastroenterologist, or to another specialist, depending on your symptoms. Here's some information to help you get ready for your appointment, and what to expect.

What you can do

  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if there's anything you need to do in advance, such as restrict your diet.
  • Write down any symptoms you're experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
  • Write down key personal information, including any major stresses or recent life changes. Learn if you have any liver disease in your family by asking your family members, if possible.
  • Make a list of all medications, vitamins or supplements that you're taking.
  • Take a family member or friend along to help you remember what's been discussed.
  • Write down questions to ask during your appointment.

Questions to ask your doctor

Some basic questions to ask include:

  • What's the most likely cause of my symptoms?
  • What kinds of tests do I need?
  • Is my condition temporary, or will I always have it?
  • What treatments are available? And what do you suggest for me?
  • I have other health conditions. How can I best manage these conditions together?
  • Are there any restrictions that I need to follow?
  • Are there any brochures or other printed material that I can take with me? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Be ready to answer questions your provider may ask:

  • When did you begin experiencing symptoms?
  • Have your symptoms been continuous, or do they come and go?
  • How severe are your symptoms?
  • Does anything seem to improve your symptoms?
  • What, if anything, appears to worsen your symptoms?
  • Does anyone in your family have hemochromatosis?
  • How many alcoholic beverages do you drink in a week?
  • Are you taking iron supplements or vitamin C?
  • Do you have a history of viral hepatitis, such as hepatitis C?
  • Have you required blood transfusions before?

By Mayo Clinic Staff

Jan. 06, 2023

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