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What is hereditary hemochromatosis?
Hereditary hemochromatosis is a blood disorder that causes your body to absorb too much iron from the food you eat. Iron is a mineral found in many foods. But too much iron is toxic to your body. The excess iron is stored in your body’s tissues and organs. Over time, the iron builds up in your body (iron overload). It may damage your tissues and organs. Too much iron in your heart, liver, pancreas, and pituitary can cause severe problems.
There are other types of hemochromatosis. They include:
Juvenile hemochromatosis. This is a rare inherited condition that affects teens and young adults ages 15 to 30. It leads to a severe iron overload. This can cause heart and liver disease.
Neonatal hemochromatosis. This is an inherited form in which , iron builds up very quickly in a baby’s liver before birth. This can cause severe organ damage.
Transfusion-related hemochromatosis. This type is not inherited but occurs in people with certain blood disorders who need many blood transfusions. Over time, these transfusions can cause iron overload.
What causes hereditary hemochromatosis?
Hereditary hemochromatosis is a genetic disease. This means it is passed down from parents through their genes. It is most common in whites whose families are from Northern Europe. Men and women are equally affected by the disease. Hereditary hemochromatosis is one of the most common genetic disorders in the U.S.
You may be born with this condition if you inherit two hemochromatosis genes, one from each parent. If you have only one of these genes, you are called a carrier of the gene. You don’t have symptoms. But you have a greater chance of having a child with this disease.
If parents without hemochromatosis have a child with the disorder, there is a 25% chance that any additional child may be born with the disease. Parents, children, and siblings (first-degree relatives) of people with hemochromatosis should be screened for the disorder.
It’s more common for men with this condition to have too much iron. Men also tend to show symptoms at a younger age than women. This is likely because women lose iron each month when they have their period.
What are the symptoms of hemochromatosis?
Each person’s symptoms may vary. Symptoms may include:
Lack of energy (lethargy) and weakness
Bronze or yellowish skin color
Loss of body hair
Impotence in men
In women, not having a period
Untreated or severe hemochromatosis may lead to the following:
Symptoms may look like other health problems. Always see your healthcare provider for a diagnosis.
How is hemochromatosis diagnosed?
This disease is usually found through a routine blood test. Your provider will take your medical history and give you a physical exam. You may also have one or more of these tests:
Iron levels. People with hemochromatosis have higher levels of iron in their blood.
Transferrin saturation (TS) test. This blood test measures the percentage of transferrin and other proteins that have too much iron. It's helpful in finding the disease early.
Ferritin levels. Ferritin is a protein in the blood. It increases when iron levels in the body increase. It rises most significantly when iron levels are very high.
Liver biopsy. A small sample of liver tissue or cells is removed and checked under a microscope.
Genetic testing. This blood test looks for the gene changes that cause hereditary hemochromatosis.
How is hemochromatosis treated?
Treatment may include:
Phlebotomy. This procedure removes blood from your body. This is done regularly at first, until iron levels return to normal. Then it can be done once or twice a year as needed.
Chelation therapy. This treatment uses medicine to remove iron from your body.
Not taking iron and vitamin C supplements . Vitamin C can increase the amount of iron you absorb.
Not drinking too much alcohol
Treatment of hemochromatosis complications. These might be diabetes or heart or liver problems.
If your iron levels return to normal before any organs are damaged, you can live a normal lifespan with this disorder.
What are possible complications of hemochromatosis?
If not treated, hemochromatosis can lead to:
Living with hemochromatosis
Hemochromatosis is a life-long condition. It can cause problems if iron levels in the blood are not kept at normal levels. Because of this, regular treatment with phlebotomy or chelation therapy is needed to reduce iron levels. Work with your healthcare provider to check and manage your iron levels. You should avoid iron and vitamin C supplements. You should not drink too much alcohol. Talk with your healthcare provider to find out how much alcohol is safe for you.
Key points about hemochromatosis
Hereditary hemochromatosis is one of the most common genetic disorders in the U.S
It causes your body to absorb too much iron from the food you eat.
The excess iron is stored in body tissues and organs. Over time it builds up and may damage tissues and organs.
Early symptoms may include lethargy and weakness, irritability, depression, joint pain, yellowish skin, and loss of body hair.
Regular treatment with phlebotomy or chelation therapy is needed to reduce iron levels.
Tips to help you get the most from a visit to your healthcare provider:
Know the reason for your visit and what you want to happen.
Before your visit, write down questions you want answered.
Bring someone with you to help you ask questions and remember what your provider tells you.
At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
Ask if your condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if you do not take the medicine or have the test or procedure.
If you have a follow-up appointment, write down the date, time, and purpose for that visit.
Know how you can contact your provider if you have questions.
Online Medical Reviewer:
L Renee Watson MSN RN
Online Medical Reviewer:
Richard LoCicero MD
Date Last Reviewed:
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