Hereditary hemochromatosis is a condition that causes the body to absorb too much iron. This causes iron to build up in the blood, liver, heart, pancreas, joints, skin, and other organs.
In its early stages, hemochromatosis can cause joint and belly pain, weakness, lack of energy, and weight loss. It can also cause scarring of the liver (cirrhosis), darkening of the skin, diabetes, infertility, heart failure, irregular heartbeats (arrhythmia), and arthritis. But many people do not have symptoms in the early stages.
Hereditary hemochromatosis is usually found at ages 40 to 60.
Hemochromatosis is a condition that occurs when too much iron builds up in the body. Small amounts of iron are normally stored in the liver and heart, but excess iron will eventually damage these organs.
There are two types of hemochromatosis:
The most common form of hemochromatosis is passed down through the genes in families.
A person may develop acquired hemochromatosis from having many blood transfusions, certain blood disorders (such as thalassemia), or chronic liver disease or from taking excessive or unnecessary iron supplements. In rare cases, a person may develop hemochromatosis if their diet contains too much iron.
Hereditary hemochromatosis is one of the most common genetic conditions in white people, especially those of Northern European descent. Excess iron builds up slowly throughout life. Most people with hemochromatosis notice symptoms when they are age 40 to 60. These symptoms include fatigue, joint pain, weakness, excess urination, and weight loss.
If hemochromatosis is recognized early, it can be treated before other problems start. It is treated by removing excess iron from the blood, either by removing blood from the body (phlebotomy) or by taking a medicine (chelating agent) that binds to and removes iron from the body. Hereditary hemochromatosis requires treatment throughout a person's life. Acquired hemochromatosis does not need further treatment after the condition has been corrected.
Symptoms often don't appear until a person is age 40 or older. This is because extra iron builds up slowly throughout the person's life. And symptoms appear after a certain amount of extra iron builds up.
The early symptoms are somewhat vague or subtle. So this disease is sometimes mistaken for another condition. Early symptoms include:
Treatment for hemochromatosis includes:
Treatment can:
Most people need treatment for the rest of their lives. But some people may not need further treatment if their iron levels return to normal and the hemochromatosis is clearly caused by another disease or by a treatment for another disease (such as blood transfusions).
Having hemochromatosis in your family doesn't mean that you will automatically get it. If you find out that you have inherited a gene that causes hemochromatosis, that means you are more likely to get hemochromatosis. Your doctor or a genetic counselor can help you understand the results of a gene test. You might watch for symptoms so that if you do get hemochromatosis, you can get treatment as early as possible. Early treatment can reverse most symptoms and prevent future problems.
Your doctor will do a physical exam and ask about your medical history. If the doctor suspects hemochromatosis, you will have blood tests to see if you have too much iron in your body.
Most of the time hemochromatosis is caused by a gene that runs in families. It is an autosomal recessive disorder that can be passed to a child from the parents. Hemochromatosis can be found early with a blood test. If you have this disease, you may want to have your children tested to see if they have it. Other family members may also want to be tested. Talking to a genetic counselor will help you decide whether genetic testing is a good idea for you and your family.
Most medical experts do not think it is helpful to screen for hemochromatosis in the general population using blood tests or genetic tests because hemochromatosis is not common. The general population includes people who do not have symptoms of hemochromatosis and who do not have a parent, sibling, or child with the disease.
Hemochromatosis happens when too much iron builds up in the body. Your body needs iron to make hemoglobin, the part of your blood that carries oxygen to all of your cells. But when there is too much iron, it can damage the liver and heart and lead to other diseases, such as diabetes and arthritis.
Hemochromatosis can be treated to prevent serious problems. But without treatment, hemochromatosis will continue storing iron in the body. When iron levels are dangerously high, organ and tissue damage can happen.
The most common type of hemochromatosis runs in families. This is called hereditary or primary hemochromatosis. But people sometimes get it from having a lot of blood transfusions, certain blood problems, liver disease, or alcohol use disorder. This is called acquired or secondary hemochromatosis.
You are less likely to have iron build up if you menstruate or are pregnant.
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