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Patient education: Hemochromatosis (The Basics)

Patient education: Hemochromatosis (The Basics)

What is hemochromatosis? — Hemochromatosis 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 pains, and weakness.

Hemochromatosis can have different causes:

It can be caused by a change in a gene, also called a gene "variant," and can run in families. This type 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 hereditary hemochromatosis, ask your doctor or nurse about getting tested for it.

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 conditions like thalassemia.

What are the symptoms of hemochromatosis? — Many people find out that 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 does have 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 a sign 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 the iron level in your body. The main test is called "ferritin." Another test is called "transferrin saturation" ("TSAT"). Both of these tests 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.

There is also a blood test to check for variants in the HFE gene. Most people with hemochromatosis have something called the "C282Y variant" 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 the HFE gene variant 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 are treated by having some of their blood removed on a regular basis. This is similar to donating blood. It works because taking blood from a person's body removes iron. Your body uses some of the extra iron 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.

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 see how well the iron removal is going.

Some blood centers allow the blood that is removed to be donated for people who need it. Others do not. 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 will need 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 the extra iron damaged your liver, you will 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.

Is there anything I can do on my own to help keep my iron levels low? — Yes. 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. 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 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. Some people with hemochromatosis might need to avoid iron supplements during pregnancy. Some can take 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 might develop 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: Blood donation (giving blood) (The Basics)
Patient education: Type 2 diabetes (The Basics)
Patient education: Cirrhosis (The Basics)
Patient education: Heart failure (The Basics)
Patient education: Sex problems in males (The Basics)
Patient education: Absent or irregular periods (The Basics)
Patient education: Hypothyroidism (underactive thyroid) (The Basics)
Patient education: Ferritin test (The Basics)
Patient education: Iron studies panel (The Basics)
Patient education: Therapeutic phlebotomy (The Basics)

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 males (Beyond the Basics)
Patient education: Absent or irregular periods (Beyond the Basics)
Patient education: Hypothyroidism (underactive thyroid) (Beyond the Basics)

This topic retrieved from UpToDate on: Jun 02, 2024.
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