What is hemochromatosis?

Hereditary hemochromatosis: Overview

Hereditary hemochromatosis is a condition that causes the body to absorb too much iron. This causes iron to build up in the blood, liver, heart, pancreas, joints, skin, and other organs.

In its early stages, hemochromatosis can cause joint and belly pain, weakness, lack of energy, and weight loss. It can also cause scarring of the liver (cirrhosis), darkening of the skin, diabetes, infertility, heart failure, irregular heartbeats (arrhythmia), and arthritis. But many people do not have symptoms in the early stages.

Hereditary hemochromatosis is usually found at ages 40 to 60.

Hemochromatosis

Hemochromatosis is a condition that occurs when too much iron builds up in the body. Small amounts of iron are normally stored in the liver and heart, but excess iron will eventually damage these organs.

There are two types of hemochromatosis:

Hereditary (genetic) hemochromatosis.

The most common form of hemochromatosis is passed down through the genes in families.

Acquired (secondary) hemochromatosis.

A person may develop acquired hemochromatosis from having many blood transfusions, certain blood disorders (such as thalassemia), or chronic liver disease or from taking excessive or unnecessary iron supplements. In rare cases, a person may develop hemochromatosis if their diet contains too much iron.

Hereditary hemochromatosis is one of the most common genetic conditions in white people, especially those of Northern European descent. Excess iron builds up slowly throughout life. Most people with hemochromatosis notice symptoms when they are age 40 to 60. These symptoms include fatigue, joint pain, weakness, excess urination, and weight loss.

If hemochromatosis is recognized early, it can be treated before other problems start. It is treated by removing excess iron from the blood, either by removing blood from the body (phlebotomy) or by taking a medicine (chelating agent) that binds to and removes iron from the body. Hereditary hemochromatosis requires treatment throughout a person's life. Acquired hemochromatosis does not need further treatment after the condition has been corrected.

What are the symptoms of hemochromatosis?

Symptoms often don't appear until a person is age 40 or older. This is because extra iron builds up slowly throughout the person's life. And symptoms appear after a certain amount of extra iron builds up.

The early symptoms are somewhat vague or subtle. So this disease is sometimes mistaken for another condition. Early symptoms include:

  • Tiredness.
  • Weakness.
  • Pain in the joints.
  • Weight loss.
  • Urinating more often.

How is hemochromatosis treated?

Treatment for hemochromatosis includes:

  • Phlebotomy. This is the most common treatment. It is like donating blood and is done on a regular schedule.
  • Chelation therapy (also called chelating agents). This is medicine that helps your body get rid of excess iron. It might be used in some people who can't have phlebotomy.

Treatment can:

  • Safely and quickly remove excess iron from the blood.
  • Limit the progression and possible complications of the disorder.
  • Prevent organ damage, such as in the liver or heart.

Most people need treatment for the rest of their lives. But some people may not need further treatment if their iron levels return to normal and the hemochromatosis is clearly caused by another disease or by a treatment for another disease (such as blood transfusions).

Can you help prevent hemochromatosis?

Having hemochromatosis in your family doesn't mean that you will automatically get it. If you find out that you have inherited a gene that causes hemochromatosis, that means you are more likely to get hemochromatosis. Your doctor or a genetic counselor can help you understand the results of a gene test. You might watch for symptoms so that if you do get hemochromatosis, you can get treatment as early as possible. Early treatment can reverse most symptoms and prevent future problems.

How is hemochromatosis diagnosed?

Your doctor will do a physical exam and ask about your medical history. If the doctor suspects hemochromatosis, you will have blood tests to see if you have too much iron in your body.

Most of the time hemochromatosis is caused by a gene that runs in families. It is an autosomal recessive disorder that can be passed to a child from the parents. Hemochromatosis can be found early with a blood test. If you have this disease, you may want to have your children tested to see if they have it. Other family members may also want to be tested. Talking to a genetic counselor will help you decide whether genetic testing is a good idea for you and your family.

Most medical experts do not think it is helpful to screen for hemochromatosis in the general population using blood tests or genetic tests because hemochromatosis is not common. The general population includes people who do not have symptoms of hemochromatosis and who do not have a parent, sibling, or child with the disease.

How can you care for yourself when you have hemochromatosis?

  • Take steps to make sure you are not building up too much iron.
    • Do not take nutritional supplements or vitamins that contain iron.
    • Do not take extra vitamin C supplements. Extra vitamin C can increase the amount of iron you absorb from food. But it's okay to eat and drink foods that naturally contain vitamin C.
    • Drink tea and coffee. These drinks—tea more than coffee—can cause your body to absorb less iron from the food you eat. Drinking these beverages does not replace usual treatment.
    • Limit or do not drink alcohol. Alcohol doesn't contain iron, but drinking it raises your risk of liver damage. This makes it more likely that you'll build up too much iron.
    • Do not use iron cookware. Food cooked in ironware can absorb some of the iron.
    • Ask your doctor if you should change the foods you eat. If you need to lower the amount of iron in your diet, you can eat less red meat and iron-fortified food, such as cereals.
  • Do not eat uncooked seafood. It can contain a bacteria that's harmful to people who have hemochromatosis.

What is hemochromatosis?

Hemochromatosis happens when too much iron builds up in the body. Your body needs iron to make hemoglobin, the part of your blood that carries oxygen to all of your cells. But when there is too much iron, it can damage the liver and heart and lead to other diseases, such as diabetes and arthritis.

Hemochromatosis can be treated to prevent serious problems. But without treatment, hemochromatosis will continue storing iron in the body. When iron levels are dangerously high, organ and tissue damage can happen.

What causes hemochromatosis?

The most common type of hemochromatosis runs in families. This is called hereditary or primary hemochromatosis. But people sometimes get it from having a lot of blood transfusions, certain blood problems, liver disease, or alcohol use disorder. This is called acquired or secondary hemochromatosis.

You are less likely to have iron build up if you menstruate or are pregnant.

Hemochromatosis: When to call

Call 911 anytime you think you may need emergency care. For example, call if:

  • You have trouble breathing.
  • You vomit blood or what looks like coffee grounds.

Call your doctor now or seek immediate medical care if:

  • You feel very sleepy or confused.
  • You have new or worse belly pain.
  • You have a fever.
  • There is a new or increasing yellow tint to your skin or the whites of your eyes.
  • You have any abnormal bleeding, such as:
    • Nosebleeds.
    • Vaginal bleeding that is different (heavier, more frequent, at a different time of the month) than what you are used to.
    • Bloody or black stools, or rectal bleeding.
    • Bloody or pink urine.

Watch closely for changes in your health, and be sure to contact your doctor if:

  • You have any problems.
  • You are gaining weight.
  • Your belly is getting bigger.

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