Hemochromatosis is a disorder in which the body stores too much iron. It’s also called iron overload disease, and it can affect children as well as adults. If hemochromatosis is not treated, it can lead to cirrhosis, liver cancer, cardiomyopathy or diabetes.
Primary hemochromatosis is a genetic condition that a baby is born with. People with this disorder build up too much iron in their bodies, because they absorb too much iron in their gastrointestinal (GI) tract. If you have someone in your family with this disorder, you are more likely to get the disease yourself.
Secondary, or acquired, hemochromatosis is caused by numerous blood transfusions, or by some blood-related conditions, such as thalassemia. It is also seen in people who have other health conditions or have chronic (long-term) alcoholism.
Caucasian people of western European descent are most likely to have primary inherited hemochromatosis. It occurs more often in men than women. For a baby to have hemochromatosis, two hemochromatosis genes must be inherited—one from each parent. If a person inherits the gene from only one parent), they are a carrier of the disorder, but will have no symptoms.
In the United States, 1 of every 8 to 12 people has one copy of the abnormal hemochromatosis gene, but they will not develop the disease. Five people in 1,000 (0.5%) have two copies of the gene for hemochromatosis and are at risk of developing the disease. It’s one of the most common genetic disorders in the United States, affecting about 1 million people.1
Healthy people store about 10% of the iron they consume, but those with hemochromatosis may store up to 30%. Thus, they store 5 to 20 times more iron than they need.1 The human body cannot get rid of the extra iron, so it is stored in the liver, pancreas, heart and other organs. This stored iron may be toxic and cause organ damage. The first organ affected by the hereditary form of hemochromatosis is usually the liver. The liver’s iron level is a predictor of survival, since a level over 400 mμmol/g dry weight is usually seen in people with cirrhosis.2 People who have cirrhosis that is a result of hemochromatosis are more likely to develop a liver cancer called hepatocellular carcinoma.
Symptoms of Hemochromatosis
Not everyone who has hemochromatosis has symptoms. In fact, some researchers estimate half of people with the genetic disorder don’t show signs of it. When symptoms do show up, they are most often seen in men between ages 30 to 50 years. In women, the average age at the time of diagnosis is about 50 years.1 Symptoms can include:
- Weight loss
- Bronze-colored skin
- Body hair loss
- Low energy level and weakness
- Abdominal pain
- Depression and irritability
- Joint pain
- Loss of sexual desire
- Amenorrhea, missed menstrual periods in women
Diagnosis of Hemochromatosis
Hemochromatosis can be difficult to diagnose because the condition is rare and early symptoms like fatigue can be caused by so many other ailments. Most cases are discovered after blood tests are done for other reasons. To diagnose, your doctor will ask questions about your medical and family history, and do a physical exam. The exam may show skin darkening (bronzing) and swelling in the liver and spleen.
Your doctor can also use the following tests to diagnose hemochromatosis:
- Blood tests:
- Transferrin saturation test: Used to determine iron levels in the body. This test and the serum ferritin test (described next) are the most common tests used to determine the iron levels in the body.
- Serum ferritin test: Determines how much iron is stored in the liver; see also transferrin saturation test (above).
- Total iron binding capacity test: Determines how well your blood can transport iron.
- Echocardiogram: Examines heart function.
- Imaging tests: CT scan, MRI, and ultrasound can be used to look at internal organs.
- Genetic testing: In families with hemochromatosis, blood can be used to check for genetic defects and find out who is at risk of developing the disease.
- Liver biopsy: A small piece of liver may be removed and examined to confirm the diagnosis; the biopsy shows how much iron is stored in the liver and whether the liver is damaged.
Treatments for Hemochromatosis
Hemochromatosis treatment removes excess iron from the blood. It is simple, inexpensive, and safe. There are 2 phases:
- Phlebotomy: Removing a pint of blood from your body one or two times a week will lower the amount of iron in the blood. Your doctor will use phlebotomy to reduce your iron levels to normal range.
- Maintenance: After your iron level is in normal range, phlebotomy will continue to maintain the iron at normal levels. You will give blood every 2 to 4 months (or more often) for the rest of your life.
How well you do depends on whether you have organ damage. If your organs were not damaged by hemochromatosis, you can avoid diabetes complications and problems in the liver and heart. Treatment can improve, but not cure, most conditions associated with hemochromatosis. An exception is arthritis, which does not improve with hemochromatosis treatment.
Some people with hemochromatosis lose sexual desire. Testosterone hormone treatment can help restore libido in men.
Diet for Hemochromatosis
If you have hemochromatosis, do not take vitamin C or iron, and do not use cookware made of iron. Do not eat foods that have added iron, including breakfast cereals. You should not consume alcohol or raw seafood because these can cause more liver damage.
Complications of Hemochromatosis
Complications can include:
The following diseases and conditions can develop from hemochromatosis:
- Heart problems
- Atrophy of the testicles
- Changes in skin color
- Greater chances of some bacterial infections
- National Digestive Diseases Clearinghouse (NDDIC): Hemochromatosis
- Crawford DH, Leggett BA, Powell LW. Haemochromatosis. Baillieres Clin Gastroenterol. 1998 Jun;12(2):209-25.