Hereditary Hemochromatosis

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What is hemochromatosis?

Hemochromatosis is a condition that causes your body to absorb and store too much iron. When your body has too much iron, it’s called “iron overload.” Iron overload can damage your tissues and organs, especially your liver, heart and pancreas.


What are some signs of hereditary hemochromatosis?

The signs and symptoms of hereditary hemochromatosis are different from person to person. Men are more likely to have symptoms than women. Although you are born with it, most people who have hereditary hemochromatosis show no symptoms of the illness until they are middle-aged. Symptoms can also change depending on the amount of iron in your diet or if you are taking iron pills or drinking alcohol.

Early symptoms include fatigue, abdominal pain, joint pain or impotence. For women, abnormal periods or early menopause also can be a sign.

People who have a very high iron levels may have skin with a bronze or gray color. Their lab tests may be abnormal. Their livers may get bigger or may become damaged and they may develop cirrhosis — permanent and extensive scarring in the liver. Other signs of hereditary hemochromatosis include diabetes and heart problems.

Causes & Risk Factors

What causes hemochromatosis?

There are 2 kinds of hemochromatosis:

Primary hemochromatosis (also called “hereditary” hemochromatosis) is the most common type of hemochromatosis. Hereditary means that it runs in the family and you are born with it. This type of hemochromatosis occurs when a child inherits a mutated HFE gene from his or her parents. This mutated gene makes your body store too much iron.

Secondary hemochromatosis (also called “acquired” hemochromatosis) can show up in people who have been taking iron pills for more than 10 years or in people who have to get many blood transfusions. People who have certain kinds of anemia or liver disease may also have secondary hemochromatosis.

Who should be tested for hereditary hemochromatosis?

Everyone with a relative with hereditary hemochromatosis should have blood tests to see if they also have it. All people with medical conditions that could be caused by hereditary hemochromatosis should be checked for iron overload. Even if your lab results are normal, you might need to get blood tests again every few years if you have some of the signs of hereditary hemochromatosis or a relative with it.

Adult relatives of a person with hereditary hemochromatosis might consider having a special test to look for an abnormal HFE gene. This test would tell their doctor if they might also have hereditary hemochromatosis.


Diagnosis & Tests

How does my doctor find out if I have hereditary hemochromatosis?

Hereditary hemochromatosis can be difficult to diagnose because many other conditions also can cause the early symptoms of the disease. Your doctor will ask you about your symptoms, do a physical exam and order blood tests to determine the amount of iron in your blood and the amount of iron stored in your liver. If your blood tests are not normal, your doctor might also do a test to look for an HFE gene.

Even if you are healthy, be sure to tell your doctor if you have a parent or sibling who has hemochromatosis. In some cases, your doctor may recommend that you consider having a special genetic test. This test will tell you whether you have hereditary hemochromatosis before you experience any of the signs or symptoms.

Your doctor should explain to you the benefits and risks of genetic testing, because you could have problems with your job or getting insurance if you have the HFE gene. That is why HFE gene testing usually is not recommended for children younger than 18 years of age.


How is hereditary hemochromatosis treated?

The goal of the treatment is to lower the level of iron in your blood back to normal. Usually, this is done by removing blood from your body (called phlebotomy [say: flee-bot-oh-me]) on a regular basis. It’s just like donating blood.Your doctor will tell you how often you need to have your blood removed (usually once or twice a week until your iron levels are normal, then less often).If you have hereditary hemochromatosis, you can do some things to help:

  • Don’t take iron supplements, not even vitamins with iron in them.
  • Don’t take vitamin C supplements.
  • Don’t eat very much red meat.
  • Don’t drink very much alcohol. You might give up all alcohol. Too much iron plus alcohol can make liver disease worse. Ask your doctor if you can drink alcohol and how much is OK for you to drink.
  • Don’t eat raw shellfish. Don’t even touch raw shellfish, because you have an increased risk of bacterial infection.

What is the outlook for people with hereditary hemochromatosis?

With early diagnosis and treatment, nearly all the long-term problems of hereditary hemochromatosis can be prevented. If the illness is diagnosed and treated before you get cirrhosis or diabetes, your life expectancy should be normal.


What are the possible complications of hereditary hemochromatosis?

If you have hereditary hemochromatosis, you might need to have a liver biopsy to see if your liver is damaged. For the biopsy, a doctor removes a small piece of your liver and looks at it under a microscope. If you have cirrhosis, you have a higher risk for getting liver cancer. A few people who have cirrhosis may get bad enough to need to have a liver transplant.

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Questions to Ask Your Doctor

  • My mother had hereditary hemochromatosis. Am I at risk?
  • I take an iron supplement every day. Am I at risk of hereditary hemochromatosis?
  • What can I do to help treat hereditary hemochromatosis?
  • Can I pass hereditary hemochromatosis down to my children?
  • What are the risk and benefits of genetic testing?