What is hemochromatosis?
Hemochromatosis is a disorder in which the body stores too much iron. Iron is an important nutrient that helps the hemoglobin in blood cells carry oxygen to your body's organs and tissues. Your intestines absorb the iron your body needs from the food you eat. The amount it absorbs is finely calibrated to replace the small amount of iron lost each day.
If you have hemochromatosis, your body absorbs more iron than it uses. The body has no way to remove the extra iron, so it stores it in the joints and organs — especially the liver, heart, and pancreas. The organs cannot manage the overload of iron, and so they can be damaged and may eventually fail.
What causes hemochromatosis?
Iron overload (hemochromatosis) can be caused by disorders such as thalassemia (an inherited blood disorder), anemia, chronic alcoholism, and other conditions. In many cases, however, iron overload is the result of a hereditary disorder, which means it is passed down from parents to children through their genes. This form of iron overload is called hereditary hemochromatosis. Hereditary hemochromatosis is also known as primary hemochromatosis. Most cases of hereditary hemochromatosis in the United States are caused by a defect in a gene called the HFE gene.
Some people get a copy of the HFE gene defect from just one parent. They are called "carriers" because they carry the defective gene and can pass it on to their children. Carriers usually do not get sick. People who get the HFE gene defect from both parents have a greater chance of developing iron overload.
There are other types of hereditary hemochromatosis that are not caused by the HFE gene defect — including , juvenile, and neonatal hemochromatosis — but they are less common.
Who gets hereditary hemochromatosis?
Hereditary hemochromatosis is more common in men and in Caucasians, especially those of Northern European descent, although it can affect other ethnic groups. Symptoms of hemochromatosis usually appear in men between the ages of 30 and 50. Symptoms often do not appear in women until after age 50 or after menopause, most likely because women lose iron from the blood loss of menstruation and childbirth. There is a greater risk of getting hemochromatosis if someone in the family has had it.
How common is hereditary hemochromatosis?
Hemochromatosis is one of the most common hereditary disorders in the United States. Approximately one of every 8 to 12 Caucasians in America is a carrier, with one copy of the gene defect, and about 5 of every 1,000 have two copies of the HFE defect, which puts them at risk for developing the disease. It is also estimated that about half of those with two copies of the HFE defect will eventually develop the disease.
What are the symptoms of hereditary hemochromatosis?
In the early stages, hemochromatosis may not have any noticeable symptoms. When symptoms do appear, the most common are chronic fatigue (feeling very tired) and joint pain. Some people with hemochromatosis have pain in their knuckles. This is called the "iron fist," and it can be a clue that a person has the disease. Other symptoms of hemochromatosis include:
- Lack of energy
- Abdominal (belly) pain
- Loss of sex drive
- Loss of body hair
- Heart flutters
- Memory fog
- Weight loss
- Abnormal coloring of the skin (gray or bronze)
How is hereditary hemochromatosis diagnosed?
Hereditary hemochromatosis often goes undiagnosed because its symptoms are similar to those of many other disorders. Often, hemochromatosis is suspected when high iron levels are found on routine blood tests.
To make a diagnosis of hereditary hemochromatosis, the doctor will use:
- History and physical examination: The doctor will begin with a complete history and physical exam. During the physical exam, the doctor may see changes in skin color or detect swelling of the liver and possibly the spleen. The doctor will also ask about any family history of hemochromatosis or unexplained liver disease.
- Blood tests: The doctor will order a series of blood tests to measure the amount of iron in the body. The tests will also help rule out other disorders as the cause of the symptoms.
If these tests show higher-than-normal levels of iron in the body, a special blood test can be used that looks for the HFE gene defect. This will confirm that the patient has hemochromatosis. (Genetic testing can also be used as a screening tool in relatives of individuals with proven hemochromatosis to detect the disease before it damages the organs.)
MRI scans are increasingly used to estimate the amount of iron in the liver. In some cases liver biopsy may be needed. During a liver biopsy, a small piece of liver tissue is removed with a fine needle. The tissue is examined under a microscope. The biopsy can show the level of iron in the liver and the extent of liver damage.
How is hereditary hemochromatosis treated?
The treatment for hemochromatosis is a simple process called phlebotomy. In phlebotomy, blood is drawn from the veins in the arm — similar to donating blood at a blood bank. Removing blood removes the iron it contains and is the most effective means of getting rid of excess iron. The blood cells removed are quickly replaced by new ones.
Treatment depends on the patient’s iron levels. Usually, a pint of blood is drawn once or twice a month until the iron levels are within the normal range. This process can take months.
Once the iron levels are stable, the patient begins maintenance therapy, which involves drawing blood several times a year for the rest of the patient's life. Yearly blood tests from the patient will determine how often blood needs to be drawn.
People with hemochromatosis should also reduce the amount of iron they get from their diet. They should avoid iron-fortified processed foods, iron pills, and vitamins and supplements that contain iron. They should also avoid raw seafood and excess alcohol.
What are the complications of hereditary hemochromatosis?
If hemochromatosis is not found early and treated, it can affect vital organs and lead to serious complications, including:
- Enlarged liver
- Cirrhosis (scarring of the liver)
- Liver cancer
- Liver failure
- Diabetes (from damage to the pancreas)
- Irregular heartbeat
- Enlarged heart
- Congestive heart failure
- Early menopause
- Damage to adrenal glands
- Enlarged spleen
What is the outlook for people with hereditary hemochromatosis?
Hemochromatosis is a lifelong but very treatable disease. When it is diagnosed early and treatment begins before organ damage has started, a person can live a normal, healthy life without complications.
The outlook for those who already have organ damage depends on how much damage there is. In some cases, organ damage can be stopped and even reversed if it is caught in its early stages. In other cases, such as cirrhosis, damage is permanent and the risk of organ failure remains.
When should I call my healthcare provider?
Call your healthcare provider if you have symptoms of hemochromatosis or if you are at risk and would like to be tested for the HFE gene defect.
Can hereditary hemochromatosis be prevented?
Hemochromatosis cannot be prevented. However, if someone in your family has had hemochromatosis, you can be screened for the HFE gene defect. This way, treatment can be started before any organ damage can occur.
- National Digestive Diseases Information Clearinghouse. Hemochromatosis Accessed 5/24/2016.
- Cleveland Clinic Disease Management Project. Hemochromatosis Accessed 5/24/2016.
- American Liver Foundation. Hemochromatosis Accessed 5/24/2016.
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 5/11/2016…#14971