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Hemochromatosis: What Every Clinician and Health Care Professional Needs to Know |
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Iron overload and Hemochromatosis Information for Patients and Family |
In the United States, most cases are a result of a genetic predisposition to absorb iron in excess of normal, and such disease is referred to as hereditary hemochromatosis. It is estimated that 1 of 10 people carry the gene mutation that can lead to iron overloading and possible disease.
Serious and sometimes fatal health problems may result from the excess iron that accumulates in the body. Symptoms associated with hemochromatosis most often appear in middle age, although some people may develop problems earlier. These symptoms reflect the tissue and organ damage that result from the disease.
The most commonly associated early hemochromatosis symptoms may include
As iron accumulation progresses, patients may also experience
Conditions associated with advanced stages of hemochromatosis include
The clinical course of hemochromatosis can be affected by excess iron in the diet, alcohol use, vitamin C intake, infections, iron lost through blood donations and menstruation, and other environmental factors. Alcohol use may worsen the disease, whereas iron lost through blood donations or menstruation may lessen the severity.
Early detection of hemochromatosis is essential because the disease's
potentially serious complications can be prevented by early diagnosis and
treatment. Two simple and relatively inexpensive blood tests are needed to
determine if you have iron overload: transferrin saturation and serum
ferritin. If results from both a fasting transferrin saturation and serum
ferritin test show that you have too much iron, you will need to begin
phlebotomy.
Currently, routine medical care or checkups usually do not include testing
for iron overload and many hemochromatosis cases may remain undetected.
People who have a close blood relative with hemochromatosis, as well as
persons who have the signs and symptoms compatible with hemochromatosis
(as described above), should talk with their health care provider about
the possibility of being evaluated for hemochromatosis.
Therapeutic phlebotomy (pronounced fle-bot-o-me) is the preferred treatment for reducing iron stores in hemochromatosis patients.
If begun early in the course of iron loading, phlebotomy can prevent most iron overload complications. For a patient who has no evident tissue or organ damage, proper disease management may result in a normal long-term outcome and life expectancy. For a patient who has tissue or organ damage, further damage can be halted but damage already incurred may not be reversible. Even after the occurrence of complications, however, phlebotomy can decrease symptoms and improve life expectancy for patients with iron overload.
In the initial phase of treatment, one unit of whole blood, which
contains about 250 milligrams of iron, is removed, usually once or twice
weekly. This "de-ironing" phase continues until all excess stored iron is
removed, as indicated by monitoring hemoglobin and serum ferritin
concentrations. The frequency and duration of this process can vary among
patients by age, gender, reason for diagnosis, and severity of symptoms.
The second phase of treatment is long-term maintenance of normal iron
stores. The frequency of phlebotomy in this phase is determined
individually for each patient, according to symptoms and levels of
hemoglobin and serum ferritin.
Often, patients and their health care providers ask whether it is safe for individuals with hemochromatosis to donate blood to community organizations. The Food and Drug Administration (FDA) recently announced that blood from therapeutic phlebotomies donated by persons with hemochromatosis could be used for transfusion if the blood donation facility met certain criteria: 1) the blood collection center may not charge for the therapeutic phlebotomy and 2) the blood center must apply to FDA for exemption from existing regulations. As part of that exemption, the blood center must collect and submit specified data to the FDA. The FDA will consider exemption applications on a case-by-case basis. Additional questions regarding blood donation from patients with hemochromatosis should be referred to the FDA at http://www.fda.gov/cber/blood.htm, or call 1-888-889-7274.
The degree of organ damage from iron overload at the time of diagnosis is the major determinant of a patient ’s prognosis. For a patient who has no evident tissue or organ damage, proper management of the disease may result in a normal long-term outcome and life expectancy. For a patient who has evident tissue or organ damage, further damage can be halted, but damage already incurred may not be reversible. Even after the occurrence of complications, however, phlebotomy can decrease symptoms and improve life expectancy for hemochromatosis patients.
The prevention and control of hemochromatosis is an achievable goal and
is important to the overall prevention of chronic disease. In the United
States, it is estimated that as many as one in every 200 to 500 people, or
approximately one million people, have evidence of hemochromatosis, and as
many as one in every 10 people may carry the gene for this hereditary
disease.
CDC's hemochromatosis research priorities include
For general information on hemochromatosis, you may contact the CDC’s
Nutrition and Physical Activity Program. If you have any questions or
comments, please contact us.