What Is It?

Hemochromatosis is a common genetic (inherited) disorder in which increased amounts of iron are absorbed from the digestive tract. This excess iron is deposited in the tissues and organs of the body, where it can become toxic and cause damage.

Hemochromatosis occurs most often in people of northern European ancestry, especially those of Scottish, Irish or English descent, and affects up to one in 250 people in the United States. Hemochromatosis most commonly is diagnosed in people between ages 40 and 60. In women, it usually is diagnosed after menopause.

The early symptoms of hemochromatosis are nonspecific and highly variable. They include:

• Weakness
• Weight loss
• Joint pain
• Abdominal pain
• Heart palpitations
• Shortness of breath
• Irritability
• Impotence
• Depression
• Loss of body hair

As the condition progresses, your skin may take on a bronze or yellowish color. Progressive deposits of iron in the tissues and organs can lead to organ failure, especially of the liver (cirrhosis), which can cause confusion, bleeding, fluid accumulation in the legs and abdomen, black or bloody stools, and jaundice. Deposits of iron in the heart can cause heart failure or an irregular heartbeat. If the pancreas is involved, you also can develop diabetes, which can cause symptoms of frequent urination and excessive thirst.

Your doctor will take a complete medical history, conduct a physical examination and order several tests to measure the amount of iron in your blood. A liver biopsy often is recommended to confirm the diagnosis. In this procedure you will receive a local anesthetic and a small piece of tissue from your liver will be removed for analysis in a laboratory. Some experts recommend screening all adults for this disorder, regardless of symptoms. Testing is available for two of the more common genes associated with this disorder (found in up to 90 percent of people with hemochromatosis), but not all carriers of the genes develop the disease.

Hemochromatosis is a lifelong condition.

There is no way to prevent hemochromatosis, because the disorder is inherited. However, complications of the disease, including cirrhosis, arthritis, heart failure and diabetes, may be prevented by early detection and treatment. Avoiding supplemental iron (as in vitamins) and high doses of vitamin C (which frees iron to deposit in the tissues) also may help to prevent complications of iron overload.

Family members of anyone diagnosed with hemochromatosis should be screened for the condition.

In hemochromatosis, as in other conditions that cause liver damage, vaccination for hepatitis A and B is recommended, as is avoiding substances that can injure the liver, such as too much alcohol. Occasional, moderate drinking seems safe if there is no evidence of liver disease.

The traditional treatment for hemochromatosis is periodic removal of blood (phlebotomy), as is performed during blood donation. Blood may be removed at variable intervals and as often as once a week until iron levels are normalized. Thereafter, phlebotomy usually is needed about every two to four months to keep iron levels in the blood at an acceptable level. Your blood count will be monitored to make sure that too much blood is not being removed, which can lead to anemia. Some dietary modifications also may be suggested. You also may need treatment for specific organ disorders, such as diabetes.

Another approach to treatment is called chelation therapy, in which a medication called deferoxamine (Desferal) binds to iron, removing it from the body and lowering the amount of stored iron. However, phlebotomy is so effective and simple that chelation therapy is rarely necessary.

Call your doctor if you have a family history of hemochromatosis or are starting to experience any symptoms of the disease.

With early diagnosis and treatment, the serious consequences of iron overload in the body can be avoided. However, once tissue damage has developed, problems related to that damage, such as arthritis or diabetes, are usually long lasting. A liver transplant is sometimes necessary for people with advanced liver failure, and people with hemochromatosis and cirrhosis of the liver have an increased incidence of a form of liver cancer called hepatoma.

Diseases and Conditions Center

All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.