Patient education: Hemochromatosis (The Basics)

What is hemochromatosis? — 

This is a condition in which 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 have different causes:

●It can be caused by a change or "variant" in a gene, and can run in families. This type is called "hereditary hemochromatosis." The gene is called HFE. ("H" stands for hereditary or hemochromatosis, and "Fe" is the chemical symbol for iron.) The gene change, called HFE C282Y, causes the body to take up too much iron.

If your parent, sibling, or child has hereditary hemochromatosis, ask your doctor or nurse about getting tested for it, too.

●In other cases, hemochromatosis can be caused by other things. One example is getting a lot of blood transfusions (more than 10 or 20). Or it can be related to other hereditary conditions that make the body take up too much iron. Thalassemia is an example.

What are the symptoms of hemochromatosis? — 

Many people find out they have hemochromatosis from a blood test before they have any symptoms. Some people have the test because they have vague symptoms like feeling tired or aches and pains.

In males, symptoms usually do not start until their 40s. In females, 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 has symptoms before they are diagnosed, the symptoms can include:

●Feeling weak or tired

●Changes in skin color that make it look darker

●Joint pains, especially in the hands

●Symptoms of a liver problem (figure 1), like 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, urinating more than usual, or problems with sex

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

●Abnormal blood tests of the liver

●High blood sugar

●Abnormal thyroid tests

●Tests that can show if there is too much iron in the body, also called "iron studies"

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

●Liver damage

●Heart damage

●Thyroid problems

●Diabetes

●Arthritis and joint pains

●Problems with sex

Is there a test for hemochromatosis? — 

Yes:

●Your doctor or nurse can do blood tests to check your iron level. The main test is called "ferritin." Another is called "transferrin saturation" ("TSAT"). Both show how much iron is in your body.

●If the amount of iron in your body is too high, your doctor or nurse can do a test to check the amount of iron in your liver and heart. This can be done using an imaging test called an MRI scan. Or it can be done with a biopsy, where the doctor inserts a small needle and removes some cells for testing. Most people can get an MRI and do not need a biopsy.

●There is also a blood test to check the HFE gene. Most people with hemochromatosis have "HFE C282Y" on both HFE genes (from their mother and their father). Anyone who has a relative with hereditary hemochromatosis should be tested for this variant. People with too much iron in their body can also be tested.

How is hemochromatosis treated? — 

If you have HFE C282Y from both parents but your iron level is normal, you might not need treatment. Your doctor can do blood tests to check the amount of iron in your body. If this gets too high, then you will need treatment.

It is important to keep your liver healthy and avoid taking iron supplements.

When treatment is needed, most people have "therapeutic phlebotomy." This means they regularly have some of their blood removed. This is similar to donating blood. It works because taking blood from the body removes iron. Your body uses the iron that's left over to make more blood cells.

If you are being treated for hemochromatosis:

●You will probably have regular visits to have blood taken until enough iron has been removed. This will happen a few times a month at first, and then once a month.

●This usually goes on for 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 do regular blood tests. This is to check for anemia and check how much iron is still in your body.

●Some blood centers donate the blood that is removed. Blood from people with hemochromatosis does not have anything wrong with it and can save lives.

Once the extra iron has been removed from your body, you need to prevent your iron levels from increasing 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 the extra iron damaged your liver, you need follow-up tests to check your liver for the rest of your life. That's because you might have a higher chance of getting liver disease or liver cancer.

What can I do on my own to help keep my iron levels low? — 

Avoid iron supplements and vitamins with extra iron. You can still take other vitamins without iron in them. You can still eat meat.

Can I drink alcohol? — 

It depends. Alcohol can damage the liver and cause iron levels to increase.

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. Some people can reduce their alcohol use to lower the risk of liver problems.

What if I want to get pregnant? — 

Talk with your doctor. Some people with hemochromatosis might need to avoid iron supplements during pregnancy. It depends on how much iron is in your body.

Your child can inherit HFE C282Y from you. If they also inherit HFE C282Y from their other parent, they might get hemochromatosis. They can wait to get tested until they are an adult. They can lead a normal life as long as they get tested and treated if needed.

More on this topic

Patient education: Iron studies panel (The Basics)
Patient education: Ferritin test (The Basics)
Patient education: Therapeutic phlebotomy (The Basics)
Patient education: Blood transfusion (The Basics)
Patient education: Blood donation (giving blood) (The Basics)

Patient education: Hereditary hemochromatosis (Beyond the Basics)
Patient education: Blood donation and transfusion (Beyond the Basics)