Hemochromatosis is a disease caused by iron overload that occurs when the body absorbs too much iron. Excess iron may be stored in the liver, pancreas, heart, brain, joints, and bone. When too much iron is stored in the liver it can cause liver damage.
Hereditary hemochromatosis is a genetic disease. It is caused by genetic mutations that are passed on from parents to their children. The parents are often silent carriers meaning they do not have the disease themselves. It is the most common genetic disease in the United States affecting one in every 200-300 people.
Another type of hemochromatosis is caused by taking too much iron supplements or receiving too many blood transfusions. This is called secondary hemochromatosis or hemosiderosis. This is not a genetic disease but can lead to some of the same problems.
The exact mechanism that causes the body to absorb too much iron is not fully understood. Having a single hemochromatosis gene mutation occurs in about one of every 10 people. However, to get the disease, a person must have two copies of a hemochromatosis gene, one mutated gene from each parent. Thus, people who have a first-degree relative (parent, brother, or sister) with hemochromatosis should be screened for the disease by their doctor.
The disease can occur at any age but typically is found in middle age. Women often are diagnosed later because they lose iron from menstrual bleeding and thus do not develop iron overload until later in life. Often people do not have any symptoms and the disease is found on routine blood testing.
Symptoms of hemochromatosis are due to damage to certain organs from iron overload. In the liver, this damage can cause cirrhosis and sometimes people become jaundiced (turn yellow). It also increases the risk of liver cancer. Iron in the pancreas can cause diabetes or trouble digesting food. Iron in the heart can cause heart failure. Iron in the bones and joints can cause arthritis.
The earlier this disease is diagnosed the better since untreated hemochromatosis can lead to severe organ damage. One way to find this disease is to measure the level of ferritin and iron in the blood. Ferritin carries iron around the body and is present in very high levels in patients with hemochromatosis. To confirm the diagnosis the doctor will often obtain a liver biopsy to measure how much iron is in the liver tissue. There is also a blood test that can detect the most common gene mutations that cause hemochromatosis.
The only way to treat hemochromatosis is to help the body get rid of the excess iron. Since a large portion of the body’s iron is in the red blood cells, removing one pint of blood every week helps the body get rid of this excess iron. It can take several months to get the job done. Once the iron levels are back to normal, removal of one pint of blood every few months keeps the iron level where it should be.
Treatment for hemochromatosis can prevent further organ damage. However, existing organ damage cannot be totally reversed and, in those cases, treatment is mainly aimed at preventing further harm to the organs.