What Is Hemochromatosis?

Hemochromatosis (HE-mo-kro-ma-TOE-sis) is a disease in which too much iron builds up in your body. This extra iron is toxic to the body and can damage the organs. If hemochromatosis is not treated, it can lead to illness or even death.

Most people with hemochromatosis inherit the condition from their parents. If you inherit two hemochromatosis genes, one from each parent, you will have the condition. These two abnormal genes cause your body to absorb more iron than usual from the diet.

Hemochromatosis is one of the most common inherited (genetic) diseases in the United States. Approximately 1 million people in the United States have the pair of hemochromatosis genes. But not everyone with the pair of hemochromatosis genes develops signs and symptoms of the disease. Estimates of how many people actually develop signs and symptoms of iron overload vary greatly. The estimates range as high as half of all people with the two hemochromatosis genes.

Effects on the Body

In hemochromatosis, iron can build up in most of your body’s organs, but especially in the liver, heart, and pancreas. When this happens, the iron can poison the organs and lead to organ failure.

• Liver. Hemochromatosis can lead to enlargement, cirrhosis (sir-RO-sis; scarring of the liver so it does not work properly), failure, or cancer of the liver.
• Heart. Hemochromatosis can cause irregular heart rate or rhythm (arrhythmia) and lead to heart failure.
• Pancreas. Hemochromatosis can lead to diabetes mellitus.

Characteristics of Hemochromatosis

How serious the disease is varies from person to person. Some people never have any symptoms or complications, even with high iron levels. Others have serious side effects or die from the disease. Certain factors can affect how serious the disease is. For example, other genes, besides the hemochromatosis genes, may change or lessen the severity of the disease. Vitamin C in the diet can increase the amount of iron the body absorbs from food and make hemochromatosis worse. Alcohol use can increase liver damage and cirrhosis. Certain conditions, such as hepatitis, can damage or weaken the liver.

Outlook

The outlook for people with hemochromatosis depends on how much organ damage has already occurred at the time of diagnosis. Early diagnosis and treatment are important. Treatment may be able to prevent, delay, or sometimes reverse complications of the disease. Treatment may lead to higher energy levels and better quality of life. For people who are diagnosed and treated early, normal lifespans are possible. If left untreated, hemochromatosis can lead to severe organ damage and even death.

August 2006