Patient education: Hemochromatosis (The Basics)

What is hemochromatosis? — Hemochromatosis is a condition where too much iron builds up in the body. This can lead to problems such as liver damage, heart damage, joint pain, and weakness.

Hemochromatosis can be caused by an abnormal gene and can run in families. This type of hemochromatosis is called "hereditary hemochromatosis." The hemochromatosis gene is called HFE. (“H” stands for hereditary or hemochromatosis, and “Fe” is the chemical symbol for iron.) If your parent, sibling, or child has hemochromatosis, ask your doctor or nurse about getting tested for it.

In other cases, hemochromatosis can be caused by other things, for example, getting a lot of blood transfusions (more than 10 or 20). Or it can be related to other blood diseases like thalassemia.

Most people find out they have hemochromatosis from a blood test. Anyone who has a family member with the condition should get tested. People with symptoms of too much iron, or an abnormal blood test showing high iron levels, should also be tested.

What are the symptoms of hemochromatosis? — Many people find out they have hemochromatosis from a blood test before they have any symptoms. In men, symptoms usually do not start until the person is in their 40s. In women, symptoms do not usually start until after menopause (when monthly periods stop). This is because it takes a long time for iron to build up in the body.

If a person does have symptoms before they are diagnosed, the symptoms can include:

●Feeling weak or tired

●Changes in the color of the skin that make it look darker

●Joint pains, especially in the hands

●Symptoms of a liver problem (figure 1), such as belly pain or yellowing of the eyes

●Symptoms of a heart problem, like trouble breathing

●Symptoms of diabetes or other hormone problems, like weight gain or urinating more than usual, or problems with sex

Sometimes there are no symptoms, but lab tests that are done for other reasons could show problems that could be a sign of hemochromatosis. These might include:

●Abnormal blood tests of the liver

●Abnormal blood sugar

●Abnormal thyroid tests

●Abnormal iron tests, also called "iron studies"

If hemochromatosis is not treated, it can lead to long-term problems that include:

●Liver damage

●Heart damage

●Thyroid problems

●Diabetes

●Arthritis and joint pain

●Problems with sex

Is there a test for hemochromatosis? — Yes. Your doctor or nurse can do different blood tests to check the iron level in your blood. If the iron level is high, they can test for the amount of iron in your liver and heart.

There is also a blood test for variants in the hemochromatosis gene (HFE). Most people with hemochromatosis have something called the "C282Y variant" on both HFE genes (from their mother and their father).

How is hemochromatosis treated? — If you have the HFE gene variant from both parents but your iron level is normal, you might not need treatment. Your doctor can do regular blood tests to check your iron level. If your iron level gets too high, then you need treatment. It is important to avoid or limit alcohol, which can damage the liver and cause iron levels to increase.

When treatment is needed, most people are treated by having some of their blood removed on a regular basis, similar to donating blood. This treatment works because taking blood from a person's body removes iron.

If you are being treated for hemochromatosis, you will probably have blood taken once a week until enough iron has been removed. This usually takes about a year, but it depends on how much extra iron you have. To track how well the treatment is working, your doctor or nurse will probably do regular blood tests. This is to check for anemia and see how well the iron removal is going.

Some blood centers allow this blood to be donated for people who need it, while others do not. Blood from people with hemochromatosis does not have anything wrong with it and can save lives.

Once your iron level is normal, you will have some treatment to keep your iron level from getting too high again. This involves having blood taken less often (a few times a year). Most people need this treatment for the rest of their life.

What other treatments might I need? — You might need other treatments if your hemochromatosis leads to long-term problems. For example, if you get diabetes, you might need to take diabetes medicines.

If you have certain liver problems, you will need follow-up tests to check your liver for the rest of your life. That's because people with certain liver problems caused by hemochromatosis have a higher chance of getting liver cancer.

Is there anything I can do on my own to help keep my iron levels low? — Yes. You should avoid iron supplements and vitamins with extra iron. It is fine to take a regular vitamin without extra iron, and it is fine to eat a regular diet including meat.

Can I drink alcohol? — It depends. Ask your doctor or nurse if it is OK for you to drink alcohol. People who have hemochromatosis and certain liver problems should not drink alcohol. Also, some people can reduce their alcohol use to lower the chance of developing liver problems.

What if I want to get pregnant? — If you have hemochromatosis and want to get pregnant, talk with your doctor or nurse. Some people with hemochromatosis might need to take iron supplements during pregnancy. Some might need to avoid iron supplements. It all depends on your iron levels.

If you have a child, they could inherit an abnormal HFE gene from you. If they also inherit an abnormal HFE gene from their other parent, they can develop hemochromatosis. But as long as they get tested when they reach adulthood and treated before they develop serious iron overload, they can lead a normal life.

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Patient education: Absent or irregular periods (The Basics)
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Patient education: Hereditary hemochromatosis (Beyond the Basics)
Patient education: Blood donation and transfusion (Beyond the Basics)
Patient education: Type 2 diabetes: Overview (Beyond the Basics)
Patient education: Cirrhosis (Beyond the Basics)
Patient education: Sexual problems in men (Beyond the Basics)
Patient education: Absent or irregular periods (Beyond the Basics)
Patient education: Hypothyroidism (underactive thyroid) (Beyond the Basics)