Hemochromatosis > updated 3-4-05

What is hemochromatosis?

Hemochromatosis is an inherited disease that caused the body to absorb and store too much dietary iron.

With hemochromatosis, excess iron accumulates over time in body organs such as the heart, liver and pancreas. If not treated, this can cause heart disease, liver disease or diabetes, and may even be fatal.

About one out of every 10 people of northern European descent carries one abnormal gene for hemochromatosis. About one in every 200 people have two abnormal genes and therefore, may develop hemochromatosis. Early detection and treatment are essential to avoid damage to vital organs.

What are the signs & symptoms?

• Weakness or chronic fatigue
• Loss of sex drive
• Pain in hands or feet, leg cramps or abdominal pain
• A Bronze discoloration of the skin
  

Symptoms vary greatly, depending on the individual. Hemochromatosis can cause liver damage (cirrhoses). Of those people with cirrhosis, about 15 to 30% develop liver cancer. Hemochromatosis can also cause heart disease, diabetes, impotence, arthritis or problems with endocrine glands.

How is hemochromatosis diagnosed?

It may take many years before a person with hemochromatosis begins to feel sick, since iron builds up very gradually. Testing of family members can identify others at risk.

There are three blood tests a doctor can use to determine how much iron is in a person's body and whether he or she is absorbing too much. These tests include serum ferritin and transferrin iron saturation percentage.

How is homochromatosis treated?

Initial treatment usually consists of removing one pint of blood each week until the body's iron level is normal. Since the body quickly replaces the pint of blood that has been removed, it draws iron out the the liver and other organs to replace iron that was lost in the blood, thereby removing excess iron that has built up in the heart , liver and other organs.

It is important to begin treatment as soon as possible once a diagnosis is made. Serious complications can be avoided if treatment is started before organs are damaged. Even if there is some damage, treatment may be able to prevent further damage or relieve the symptoms.

Once the iron levels are normal, patients need only occasional treatments. If no irreversible organ damage has occurred, patients can expect to lead normal lives.