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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
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. But people sometimes get it from having a lot
blood transfusions, certain blood problems, liver
disease, or alcoholism.
are more likely than women to have too much iron built up. Women get rid
of extra iron through blood from their menstrual cycles and during
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:
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 U.S. Preventive Services Task Force (USPSTF) does
not recommend genetic screening for hemochromatosis in the general
population.1 The general population includes people
who do not have symptoms of hemochromatosis and who do not have a parent,
brother, sister, or child with the disease.
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.
At home, you can take steps to make sure you are not getting too much iron in food or drinks.
Learning about hemochromatosis:
Testing for iron:
Testing and screening for hemochromatosis:
The Iron Disorders Institute is a national voluntary
health agency that provides information about iron disorders such as
hemochromatosis, acquired iron overload, sickle cell anemia, thalassemia, iron
deficiency anemia, and anemia of chronic disease. The organization works with a
scientific review board as well as various medical professional groups. A free
newsletter, idInsight, is available.
The U.S. National Heart, Lung, and Blood Institute
(NHLBI) information center offers information and publications about preventing
U.S. Preventive Services Task Force (2006). Screening for hemochromatosis. Available online: http://www.ahrq.gov/clinic/uspstf06/hemochromatosis/hemochrs.htm.
Other Works Consulted
Bacon, BR et al. (2011). Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology, 54(1): 328–343.
Beutler E (2010). Disorders of iron metabolism. In K Kaushanksy et al., eds., Williams Hematology, 8th ed., pp. 565–606. New York: McGraw-Hill.
Edwards CQ (2004). Hemochromatosis. In JP Greer et
al., eds., Wintrobe's Clinical Hematology, 11th ed.,
vol. 1, pp.1035–1055. Philadelphia: Lippincott Williams and
National Human Genome Research Institute (2010). Learning about hereditary hemochromatosis. Available online: http://www.genome.gov/page.cfm?pageID=10001214.
Powell LW (2012). Hemochromatosis. In DL Longo et al., eds., Harrison's Principles of Internal Medicine, 18th ed., vol. 2, pp. 3162–3167. New York: McGraw-Hill.
Qaseem A, et al. (2005). Screening for hereditary
hemochromatosis: A clinical practice guideline from the American College of
Physicians. Annals of Internal Medicine, 143(7):
August 5, 2013
Kathleen Romito, MD - Family Medicine & Brian Leber, MDCM, FRCPC - Hematology
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