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Iron Overload and Hemochromatosis
Iron overload and Hemochromatosis
Information for Patients and Family
Hemochromatosis: What Every Clinician and Health Care Professional Needs to Know
Iron overload is the accumulation of excess iron in body tissues. Hemochromatosis is the disease resulting from significant iron overload. Hemochromatosis can have genetic and non-genetic causes.
Early symptoms are nonspecific (i.e., weakness, fatigue, and arthralgia.)
Advanced stages of hemochromatosis can include liver cancer, liver cirrhosis, arthritis, diabetes, and heart failure.
Early diagnosis and treatment can prevent the serious complications of hemochromatosis.
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.

Signs and Symptoms
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

Weight loss.
Abdominal pain.
As iron accumulation progresses, patients may also experience

Signs of gonadal failure.
For example, amenorrhea, early menopause, loss of libido, impotence.
Shortness of breath/dyspnea.
Conditions associated with advanced stages of hemochromatosis include

Abnormal liver function (e.g., elevated transaminase and clinical liver disease).
Glucose intolerance and diabetes.
Chronic abdominal pain.
Severe fatigue.
Cardiomyopathy and arrhythmia.
Liver cirrhosis.
Liver cancer.
Heart failure.
Gray or bronze skin pigmentation.
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 (e.g., 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 blood removal in this phase is determined individually for each patient, according to symptoms and levels of hemoglobin and serum ferritin.

Questions Regarding Blood Donation
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 1-888-889-7274.

The degree of organ damage from iron overload at the time of diagnosis is the major determinant of a personís 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.

Public Health Issues Related to Hemochromatosis
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

Educating health care providers about the importance of early diagnosis and treatment of hemochromatosis.
Determining how best to use laboratory testing of serum iron measures and genetic testing to assist clinicians and patients.
Educate patients about hemochromatosis and family-based detection.
Estimate the prevalence of hemochromatosis and its associated morbidity and mortality.

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