What is Hemochromatosis

Hemochromatosis is a condition in which the body stores too much iron. This is also called iron storage disease or iron overload disorder. The extra iron builds up in your joints, heart, liver, pancreas, and other organs, where it can cause damage.

There are two forms of this condition; they include:

• Hereditary hemochromatosis. Defects (mutations) on certain genes can cause symptoms to develop. With this type of the condition, the body absorbs more iron than it needs from the foods you eat.
• Secondary hemochromatosis. With this type of the condition, iron builds up in the body due to other reasons, such as from liver disease or blood transfusions.

What are the causes?

This condition may be caused by:

• Abnormal genes passed down from both parents (inherited).
• Receiving blood from a donor (blood transfusion).
• Problems with the way the body uses iron in the bone marrow (ineffective erythropoiesis).
• Having chronic liver disease, such as hepatitis or liver cancer.

What increases the risk?

You are more likely to develop this condition if you:

• Inherit certain abnormal gene mutations from both parents.
• Are white (Caucasian).
• Have severe or long-term (chronic) anemia.

What are the signs or symptoms?

Signs and symptoms can start at any age, but they usually start in middle age. They may include:

• Fatigue.
• Weakness.
• Joint pain and stiffness.
• Abdominal pain.
• Weight loss.
• Skin turning a gray or bronze color.
• Loss of interest in sex.
• Loss of menstrual periods, in women.
• Loss of body hair.
• Shortness of breath.

As hemochromatosis gets worse, it may damage the liver, heart, or pancreas. This may lead to complications such as:

• Diabetes.
• Liver cancer.
• Abnormal heart rhythms.
• Heart failure.

How is this diagnosed?

This condition may be diagnosed based on:

• Your symptoms and medical history.
• A physical exam.
• Blood tests.
• Genetic testing.
• Removal and testing of a sample of liver tissue (liver biopsy).

How is this treated?

This condition is most often treated with:

• Therapeutic phlebotomy. In this procedure, some of your blood is removed periodically in order to reduce the amount of iron in your body. Over time, your body will naturally replace the blood cells that you lose during phlebotomy. At the start of treatment, you may have a unit of blood removed once or twice a week. You will have blood tests during this time to determine when your iron levels return to normal. Once your iron levels are normal, you may only need to have a phlebotomy every few months.
• Lifestyle changes. This may include not drinking alcohol and limiting certain items in your diet.
• Medicines to remove excess iron (chelation therapy).
• Medicines to help treat any related conditions.
• Genetic counseling. If you are found to have a gene mutation, other family members may need to be tested for hereditary hemochromatosis.

Follow these instructions at home:

Alcohol use

• If you have liver damage, do not drink alcohol.
• If you do not have liver damage:
  • Do not drink alcohol if:
    • Your health care provider tells you not to drink.
    • You are pregnant, may be pregnant, or are planning to become pregnant.
  • If you drink alcohol, limit how much you have:
    • 0–1 drink a day for women.
    • 0–2 drinks a day for men.
  • Be aware of how much alcohol is in your drink. In the U.S., one drink equals one typical bottle of beer (12 oz), one-half glass of wine (5 oz), or one shot of hard liquor (1½ oz).

General instructions

• Stay active. Exercise for at least 30 minutes on most days of the week.
• Take over-the-counter and prescription medicines only as told by your health care provider. This includes vitamins and supplements.
• You may need to have frequent blood or urine testing to monitor your condition and to look for complications.
• Follow any instructions as directed by your health care provider regarding dietary restrictions.
• Do not:
  • Take vitamins or supplements that contain iron.
  • Take vitamin C supplements. Vitamin C makes your body absorb more iron from foods.
  • Eat raw shellfish or raw fish. Hemochromatosis may increase your chance for infection from these foods.
• Keep all follow-up visits as told by your health care provider. This is important.

Contact a health care provider if you have:

• Fatigue.
• Unusual weakness.
• Shortness of breath.
• Joint pain.
• Abdominal pain.
• Weight loss.

Get help right away if you have:

• Chest pain.
• Trouble breathing.

Summary

• Hemochromatosis is a condition in which your body stores too much iron. This is also called iron storage disease or iron overload disorder.
• The extra iron builds up in your joints, heart, liver, pancreas, and other organs, where it can cause damage.
• Signs and symptoms can start at any age, but they usually start in middle age.
• To treat this condition, you will need to have some of your blood removed periodically (therapeutic phlebotomy). Removing some of your blood also removes iron from your body.
• You may need to have frequent blood or urine testing to monitor your condition and to look for complications.