What is hemochromatosis?

Hemochromatosis occurs when the body absorbs too much iron from foods (and other sources such as vitamins containing iron). This disease causes extra iron to gradually build up in the body's tissues and organs, a term called iron overload. If this iron buildup is untreated, it can, over many years, damage the body's organs.

What are the causes?

Although hemochromatosis can have other causes, in the United States the disease is usually caused by a genetic disorder. A person who inherits the defective gene from both parents may develop hemochromatosis. The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. Because one inherits genes from his or her parents, this type of the disease is also called hereditary hemochromatosis.

What are the symptoms?

Early indications of hemochromatosis include the following symptoms:

• Fatigue (feeling very tired)
• Weakness
• Weight loss
• Abdominal pain
• Joint pain

Because these symptoms also occur with other diseases, hemochromatosis can be difficult to diagnose in its early stages.

How is it detected?

The iron overload associated with hemochromatosis can be detected through two blood tests. The tests measure how much iron is in the body. You can have these tests done in your doctor's office.

If hemochromatosis is detected early, treatment can slow its progress and prevent serious problems. However, if the disease is not detected and treated early, it can cause more serious problems. These problems include arthritis, heart problems, and liver problems (such as cirrhosis and liver cancer).

What is the treatment?

Treatment consists of periodically taking blood from the arm, much like giving blood. The treatment is safe and effective. Patients can expect a normal life span if they start treatment before organ damage has begun.

Signs and Symptoms

Hemochromatosis can have a variety of symptoms and symptoms may be different for men and women. Hemochromatosis can be hard to identify because early symptoms are similar to those of many other common diseases.

Although most people reach middle-age before they have symptoms of hemochromatosis, some people may have symptoms at a younger age. The symptoms depend on which organs are being affected by the iron buildup.

Early Symptoms of Hemochromatosis

Early indications of hemochromatosis are often like those of other diseases and include the following symptoms:

• Fatigue (feeling very tired)
• Weakness
• Weight loss
• Abdominal pain
• Joint pain

As iron builds up in the body organs, hemochromatosis may also produce the following symptoms:

• Loss of menstrual periods or early menopause
• Loss of sex drive (libido) or impotence
• Loss of body hair
• Shortness of breath

Although not a physical symptom, another possible indication of hemochromatosis is having an elevated liver enzyme test.

Advanced Symptoms of Hemochromatosis

As the disease progresses, hemochromatosis may cause the following more serious problems:

• Arthritis
• Liver problems, such as cirrhosis (or scarring of the liver) and liver cancer
• High blood sugar and diabetes
• Abdominal pain that does not go away
• Severe fatigue (feeling extremely tired and having a lack of energy)
• Heart problems (such as a heart beat that is not regular)
• Heart failure (such as the heart not pumping blood as well as it did previously)
• Gray-colored or bronze-colored skin

Key Point

Early symptoms of hemochromatosis, such as feeling very tired, pain in the joints, weakness, weight loss, and abdominal pain, are like the symptoms of other diseases, but may indicate the presence of iron buildup and hemochromatosis. Elevated liver enzyme tests may also indicate the presence of iron buildup and hemochromatosis.

Tags: Disorders and Diseases, Iron

About the Author

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The Centers for Disease Control and Prevention (CDC) is one of the 13 major operating components of the Department of Health and Human Services (HHS), which is the principal agency in the United States government for protecting the health and safety of all Americans and for providing essential human services, especially for those people who are least able to help themselves.