Rosalyn Carson-DeWitt, MD
Hemochromatosis is a condition in which the body builds up too much iron. Two types of hemochromatosis are:
This type is caused by inherited genes and includes juvenile hemochromatosis. These genes cause the stomach and intestines to absorb too much iron. It is the most common genetic disorder in the US.
This type results from treatments or diseases that cause iron to build up in the body. This may include:
If found, early HH is easily treated. Untreated HH can lead to severe organ damage. Excess iron builds up in the cells of the liver, heart, pancreas, joints, and pituitary gland. This leads to diseases such as
of the liver,
liver cancer, diabetes, coronary artery disease, and joint disease.
HH is caused by a genetic defect. It is passed down through autosomal recessive inheritance. This means a child who inherits 2 genes, 1 from each parent, is very likely to develop HH. However, not all people who have 2 copies of the gene develop signs and symptoms of HH.
Hemochromatosis usually present in men between 30-50 years old and in women over 50 years old (postmenopausal). Factors that increase your chance for developing HH include:
Many people have no symptoms when they are diagnosed. However when they occur, symptoms may include:
Complications may include:
If the disease is not treated early, iron may build up in body tissues. This may eventually lead to serious problems such as:
You will be asked about your symptoms and medical history. A physical exam will be done.
Your bodily fluids may be tested. This can be done with blood tests, including genetic testing.
Tests may be done to examine your liver. This can be done with a liver biopsy.
Images may be taken of your bodily structures. This can be done with:
Treatment is simple, inexpensive, and safe.
The first step is to rid the body of excess iron by removing blood. The schedule will depend on how severe the iron overload is. A pint of blood will be taken once or twice a week for several months to a year (or possibly longer).
When iron levels return to normal, maintenance therapy is given. A pint of blood is given every 2 to 4 months for life. Some people may need it more often. Females may need to increase their schedule after menopause.
Lifestyle changes include steps to reduce the amount of iron you consume and/or absorb, and to help protect your liver:
You may need to be treated for other conditions that have developed. Hemochromatosis can cause these to develop:
To help reduce the chance of hemochromatosis:
A genetic counselor can help you review your family history, determine your specific risks, and review the appropriate testing.
American Hemochromatosis Society
American Society of Hematology
Canadian Liver Foundation
Hemochromatosis. American Liver Foundation website. Available at: http://www.liverfoundation.org/abouttheliver/info/hemochromatosis. Updated January 14, 2015. Accessed February 16, 2015.
Hemochromatosis. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at: http://www.niddk.nih.gov/health-information/health-topics/liver-disease/hemochromatosis/Pages/facts.aspx. Updated March 19, 2014. Accessed February 16, 2015.
Hemochromatosis (iron storage disease). Centers for Disease Control and Prevention website. Available at: http://www.cdc.gov/ncbddd/hemochromatosis/index.html. Updated September 23, 2013. Accessed February 16, 2015.
Last reviewed March 2016 by Marcin Chwistek, MD
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