Centers
For Disease Control
Iron Overload and HemochromatosisIn the United States, most cases of "iron overload" are caused by a genetic condition known as "hereditary hemochromatosis." Serious and sometimes fatal health problems may result from the excess iron that accumulates in the body. These complications may include severe weakness or fatigue, unexplained joint or abdominal pain, impotence, infertility, and loss of menstrual periods. The diseases associated with hemochromatosis include liver cancer, cirrhosis, arthritis, diabetes, and heart failure.
Overview on Iron Overload and
Hemochromatosis
This section provides basic information on
hemochromatosis, the signs and symptoms, diagnosis,
treatment, questions regarding blood donation, prognosis
and public health issues related to hemochromatosis.
Iron Overload Disease due to
Hereditary Hemochromatosis
Additional background information, a diagram
depicting the course of hereditary hemocromatosis, CDC
program activities, and priorities for 2001 can be found
here.
Screening for Iron Overload due to
Hereditary Hemochromatosis
Information on identifying people early with evidence of
iron overload.
Information for Patients and Their
Families
You can live a healthy life, if you get treatment
early.
Frequently Asked Questions
Definitions, signs and symptoms, risk factors,
detection, prevalence, treatment, blood donation, diet,
causes, history, and important information regarding the
CDC and Hemochromatosis.
Resources
Helpful resources can be found here.
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In the United States iron overload is primarily due to a genetic disorder known as hereditary hemochromatosis. Hemochromatosis is characterized by lifelong excessive absorption of iron from the diet, with iron accumulating in body organs, eventually causing inflammation and damage. Serious and even fatal health effects can result, including cirrhosis of the liver, liver cancer, heart abnormalities (leading to heart failure), diabetes, impotence, and arthritis. Approximately one of every 200 to 400 people is affected, while one in 10 is a carrier making this one of the most common of the known genetic disorders in the United States. The availability of diagnostic tests for serum iron measures and the recent discoveries of the genetic mutations responsible for hemochromatosis provide the potential for early detection. However, the social, ethical, and legal implications of such genetic testing and screening are only beginning to be explored.
Treatment by periodic removal of iron (by blood removal, or phlebotomy) is safe and effective, and can lead to a normal life expectancy if initiated before organ damage has occurred. Early detection and treatment for this genetic condition can lessen morbidity and mortality, and in some cases prevent the onset of disease. Therefore, early detection of hemochromatosis represents a major chronic disease prevention opportunity. Hereditary hemochromatosis is often referred to as the "poster child" genetic disorder because it serves as a model for formulating policy decisions about genetic-associated diseases.
[Text
Description]
slope depends on individual
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Michele Reyes PhD, Heidi Michels Blanck PhD, and Muin J. Khoury MD PhD
Identifying people early with evidence of iron overload represents a major chronic disease prevention opportunity. Because iron loading caused by hereditary hemochromatosis is common and can be effectively treated with periodic phlebotomy, both the medical community and patient support groups have advocated population screening. In fact, it has been suggested that hereditary hemocromatosis serve as a model for formulating policy decisions about genetic-associated diseases, in particular for decisions about the usefulness of genetic screening. However, at this time, CDC does not recommend universal screening for hereditary hemochromatosis because of many unresolved issue.1,2 Of utmost concern is the uncertainty about what proportion of people with genetic risk or biochemical evidence of iron overload will develop the complications of iron overload. Although HFE gene mutation testing can identify those relatives who carry susceptible genotypes, testing iron status directly is not only more relevant clinically than genetic testing but also avoids the possibility of adverse genetic discrimination.1
CDC currently recommends iron overload testing for persons who have a close blood relative with hereditary hemochromatosis, because they have a substantial risk of developing clinical complications and represent an ideal group for targeted prevention efforts. In addition, persons experiencing the unexplained symptoms compatible with hemochromatosis (these symptoms include severe weakness or fatigue; unexplained joint or abdominal pain; signs of liver disease, diabetes, or heart problems; impotence; infertility; and loss of menstrual periods) should also be tested.2 Testing to exclude other causes of these medical problems should also be performed.
Persons with elevated iron or liver function measures
should be monitored by their health care provider.
Strategies are needed to disseminate information to
family members about their genetic risk and to aid their
efforts to be tested. This challenge must be accomplished
in the course of patient care. Educational efforts are
needed to heighten awareness of the genetics of iron
overload and prevention opportunities among family
members. To this end, CDC, in collaboration with other
partners, is developing a national education campaign to
heighten health care providers' awareness of the need for
early diagnosis and treatment of iron overload due to
hereditary hemochromatosis.
You can live a healthy life, if you get treatment early.
Iron overload is a serious chronic condition that develops when your body absorbs too much iron over many years.
If iron overload is treated before it can damage your organs, you can live a normal healthy life. However, if not treated early, it can become a serious health problem. The key is early diagnosis and treatment. More information on treatment.
Iron overload affects everyone differently. Some people feel tired. Others have heart palpitations or pain in their joints or stomach. Unfortunately, there is no definite symptom, or set of symptoms, that indicates a person has too much iron. Diagnosing iron overload can be difficult because the symptoms are like the symptoms of many other diseases.
In the United States, iron overload is usually caused by a condition called hemochromatosis [pronounced he-mo-kro-ma-toe-sis]. Some people get iron overload because of what they eat or because of treatment for another problem, such as anemia.
It's a genetic condition that usually causes the body to absorb too much iron, which—after many years—leads to iron overload.
No, but many people do. However, whether they have symptoms or not, people with hemochromatosis should have their iron levels tested regularly to make sure they stay well.
It's also important for family members to get tested to see if they have iron overload. More information on your family and hemochromatosis.
The age varies from person to person. Usually, symptoms begin during middle age. Some people get sick sooner, others later.
If iron overload is not treated, your organs can become damaged. Eventually, iron overload could cause one or more of these conditions:
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Liver cancer |
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Diabetes |
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Cirrhosis of the liver |
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Heart disease |
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Arthritis |
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Bronze skin |
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Impotence for men |
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Infertility and loss of periods for women | ||
The condition that causes iron overload cannot be cured, but it can be controlled by phlebotomy (pronounced fle-bot-o-me).
It's the same procedure as when you donate blood. A nurse takes about a pint of blood from a vein in your arm. The procedure takes about an hour.
A phlebotomy is simple, safe, and effective. However, because you'll be having frequent phlebotomies, your doctor will monitor your health more closely than if you were just donating blood.
Probably for about a year, you will have phlebotomies once or twice a week. How many phlebotomies you have—and how often you have them—depends on how much iron has built up in your body.
Yes. However, after the iron is first lowered to a safe amount, you will have phlebotomies much less often—usually a few times a year.
Everyone's experience is unique. Some people feel just fine. Others feel tired afterwards and like to rest for an hour or so. It's a good idea to drink water, milk, or fruit juices after a phlebotomy.
Without phlebotomies, iron overload can cause death.
Treatment is worth the effort.
There is a lot you can do to take charge of hemochromatosis and to make sure your life is as normal and healthy as possible.
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Check-ups: Have the amount of iron in your blood checked regularly. |
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Phlebotomy: Make sure to get phlebotomies when you need them. |
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Food: Don't eat raw fish or raw shellfish. Cooking destroys germs harmful to people with iron overload. |
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Alcohol: If you choose to drink alcohol, drink very little. Women should have less than one drink a day. Men should have less than two a day. However, if you have liver damage, do not drink any alcohol. |
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Iron pills: Don't take pills or supplements that have iron. Eating foods that contain iron is fine. |
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Vitamin C: Vitamin C increases the amount of iron your body absorbs. So, don't take pills with more than 500 mg of vitamin C per day. Eating foods with vitamin C is fine. |
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Exercise: You can exercise as much as you want. Indeed, it's good to exercise so you'll stay fit. |
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"We see so many people
who find out too late that they have iron overload —
after lots of damage is already done. It's vital that
people with hemochromatosis urge family members to
get tested immediately. Then, if they have the
condition, they can get treatment before there's much
damage." Prad Phatak, MD Rochester General Hospital, Rochester, New York
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"For a year now, we've
been using blood from the phlebotomies of
hemochromatosis patients for transfusions. The
patients are pleased to help others in this manner,
and the practice has helped greatly in a time of
blood shortage." Vincent J. Felitti, MD Southern California Kaiser Permanente, San Diego, California |
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"CDC is interested in
teaching blood banks, doctors, and patients more
about early diagnosis and treatment of iron overload.
An important step that patients can take toward good
health is to keep getting phlebotomies." Michele Reyes, PhD Centers for Disease Control and Prevention, Atlanta, Georgia |
Hemochromatosis runs in families. So, your parents, sisters, brothers, or children may also have it.
You can help by telling family members that you have hemochromatosis and that they could have it too. You can also urge them to get their iron level checked because the sooner they know whether they have iron overload, the better. People who start treatment early can stay healthy.
Because hemochromatosis is caused by genes we are born with. We inherit genes from our parents, and our children inherit genes from us.
It's impossible to answer that question because your children inherit genes not only from you, but also from their other parent. The best plan is to discuss hemochromatosis with your children's pediatrician and to have your children tested to make sure their iron levels remain normal.
Indeed, it's important for all close family members (your children, brothers, and sisters) to get their iron levels tested regularly. The earlier family members find out whether they have iron overload, the better their chances of leading a long, healthy life.
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"I am one of the lucky
ones—I got treatment in time. But my brother and
sister were not so lucky—both died of liver disease
due to iron overload. If their disease had been
diagnosed earlier, they might be alive today. Please
get checked if you think there's any chance you might
have the disease."
Jack C. |
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"I have iron overload,
so I had my son tested to see if he has it too. I'm
glad I did because he does have the disease, and we
found out early. The doctor says if my son watches
what he eats and gets phlebotomies when he needs
them, he'll probably never suffer any bad effects."
Carol S. |
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"I have hemochromatosis,
and so do my daughter, Ashleigh, and my son, Adam. We
take this disease very seriously and follow our
treatment regimen rigorously. Early treatment is so
important to saving lives, improving the quality of
life, and reducing health care costs." Eric G. |
There is no medical reason why blood from people with iron overload should not be used for transfusions. The Food and Drug Administration has special guidelines about handling blood donations from people with iron overload.
If you are interested in donating your blood, contact your blood bank directly to find out about its policies.
In the United States, about one million people have iron overload due to hemochromatosis. The condition is most common among people whose ancestors came from northern Europe.
More men than women have the condition. Perhaps women are less likely to get the condition because they lose iron when they have menstrual periods or when they give birth.
One million people in the United States have iron overload.
One of the best things you can do when you find out you have any type of illness is to learn as much as you can about that illness. Talk with your doctor about what to expect. Ask questions.
Sometimes it's only after you've left the doctor's office that you think of questions. After learning you have iron overload, write a list of your questions as they come to you, and then talk with your doctor again.
Remember, every question is worth asking.
http://www.cdc.gov/health/diseases.htm
Information on various diseases (including iron overload
and hemochromatosis) from the Centers for Disease Control
and Prevention.
http://www.nhgri.nih.gov/DIR/VIP
Information on genetics for physicians and nurses —
National Institutes of Health.
http://gslc.genetics.utah.edu/*
Information on genetics for patients — University of Utah
You can get on the Internet free at all public libraries.
[http://www.cdc.gov/nccdphp/dnpa/00linkdesc.htm]
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Have the amount of iron in your blood checked regularly. |
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Have a phlebotomy as often as needed. |
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Don't eat raw fish or raw shellfish. |
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Stay away from alcohol. |
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Don't take pills with iron in them. |
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Don't take pills with more than 500 mg of vitamin C per day. |
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Follow your doctor's recommendations. |
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The earlier you get treatment, the better your chances of staying healthy. |
What is iron overload?
Iron overload is a condition in which the body absorbs and accumulates too much iron.
Humans extract needed iron, via the intestine, from the diet. When there are adequate iron stores, intestinal absorption of iron is reduced to avoid excessive accumulation of iron. When the regulation of intestinal iron absorption is altered, the body can absorb too much iron leading to iron overload. Multiple conditions can cause iron overload including transfusion-related and dietary iron overload. The most common form of iron overload in the United States is an inherited condition called hereditary hemochromatosis.
What is hereditary hemochromatosis?
Hereditary hemochromatosis is a genetic disease that
is the result of inheriting two defective copies of a
particular gene, one from each parent. The mutation in
this gene causes the intestine to absorb too much iron.
Over time, usually several years, this excess iron is
deposited in the cells of the liver, heart, pancreas,
joints, and pituitary gland. If left untreated, organ
damage can result.
What are the signs and symptoms of hemochromatosis?
In the early stages of hemochromatosis, symptoms are non-specific and mimic a variety of other disease symptoms. Symptoms can include fatigue, palpitations, joint pain, non-specific stomach pain, and impotence, as well as loss of menstruation and infertility. Abnormalities of liver function tests can also occur in the absence of symptoms. The consequences of advanced hemochromatosis include gray or bronze skin pigmentation, cirrhosis of the liver, liver cancer, diabetes, heart disease, joint disease, chronic abdominal pain, severe fatigue and certain infections. Death may result from cardiac arrhythmia, congestive heart failure, diabetes, liver failure, and liver cancer.
What kind of health complications can the disease cause?
The later consequences include skin pigmentation, cirrhosis of the liver, liver cancer, diabetes mellitus, heart disease, joint disease, severe fatigue, and chronic abdominal pain.
Are there certain conditions that only hemochromatosis victims suffer?
The bronzing pigmentation associated with the later
stage of hemochromatosis is the only unique sign of the
disorder but not every affected individual develops this
complication. Unfortunately, there is no sign or symptom
or constellation of signs and symptoms specific for
hemochromatosis. Because hemochromatosis symptoms mimic a
variety of other diseases, the diagnosis of
hemochromatosis can be missed unless specific tests
(serum iron measures) are conducted.
Who is most at risk for the disorder?
Siblings of persons with the disorder have a 25% chance of carrying the mutations responsible for hereditary hemochromatosis, while children with one affected parent have a 5% chance of being affected. When both parents have the disorder, children have a 100% chance of carrying the hereditary hemochromatosis mutations. However, it is not known what proportion of these affected individuals will develop iron overload during their lifetimes. Persons who have the signs and symptoms compatible with hemochromatosis (such as severe weakness or fatigue, unexplained joint or abdominal pain, signs of liver disease, diabetes or heart problems, or elevated iron measures, impotence, infertility or loss of menstrual periods) may be at risk. These individuals should talk with their health care provider about the possibility of being evaluated for hemochromatosis.
At what ages do people experience the symptoms/complications of hemochromatosis?
The symptoms/complications of hemochromatosis
typically occur in middle-age, but can occur earlier in
some people. The disease progression appears to vary in
each individual. It is possible that a substantial
proportion of people with hemochromatosis remain healthy
without treatment for many years, while a smaller
proportion of people progress more rapidly through the
course of their disease and they develop life-threatening
complications early. Therefore, further studies are
necessary to gain an understanding of the clinical course
of hemochromatosis among different individuals and to
gain a better understanding of factors that modify
disease progression.
How is hemochromatosis detected?
Short answer:
A simple blood test is used to diagnose people with iron overload. The test typically used for this purpose is transferrin saturation. If the initial test comes back elevated (>45%), then a repeat test is conducted after an overnight fast. If both tests are elevated, further tests are conducted to determine if iron overload is present. For more details, refer to the recommendations in the Annals of Internal Medicine Supplement, 1 December 1998, page 955.
Unfortunately, standard cut-off points for these tests have not yet been determined. Although there is no agreement as to the standard transferrin cut-off value, most investigators suggest a value over 60% be considered abnormal, and values between 45% and 60% indicate iron overload is possible. Serum ferritin values > 200 ug/L in premenopausal females and >300 ug/L in males and post menopausal females are considered abnormal. Since serum ferritin can be elevated for reasons independent of iron overload, this measurement alone does not necessarily reflect iron overload. Both tests should be conducted to diagnose hemochromatosis.
Long answer:
High transferrin saturation is the earliest manifestation of hereditary hemochromatosis. It is recommended that people with the symptoms compatible with hereditary hemochromatosis be tested. However, not all persons with high transferrin saturation values have the disorder. To assess the presence of iron overload, serum ferritin is also measured. If this is also elevated, iron overload is likely. Confirmation of iron overload is measured directly through liver biopsy to measure the amount of iron per gram of liver tissue, or through quantitative phlebotomy, the sequential removal of 1-2 units of blood per week until a low normal serum ferritin is achieved. Iron overload is considered to be present if this procedure results in the removal of 5 gms. (or 20 units) in males or 3 gms. (or 12 units) in females before reaching low levels of serum ferritin.
(For more details, refer to the 1 December 1998 Annals of Internal Medicine supplement).
Note: Transferrin is a protein that transports iron in the blood. Individuals with high transferrin saturation values may or may not have iron overload.
Transferrrin saturation = [serum iron / total iron binding capacity (TIBC)] X 100
Is CDC telling people to go out and get tested?
At this time, CDC recommends that testing be conducted
if an individual has a close blood relative with
hemochromatosis or if an individual experiences the signs
or unexplained symptoms compatible with hemochromatosis
(such as severe weakness or fatigue, unexplained joint or
abdominal pain, signs of liver disease, diabetes or heart
problems, impotence, infertility and loss of menstrual
periods). Testing to exclude other causes for these
medical problems should be performed. People with
elevated iron measures or liver function tests should be
followed by their health care provider.
How many people have hemochromatosis?
It is estimated that 1 in every 200 – 500 people in
the United States has hereditary hemochromatosis…about 1
million people. Whites of northern European descent are
at highest likelihood of being affected, and men are more
commonly affected than women, who may be protected by
iron loss through menstruation and pregnancy.
How do you treat hemochromatosis?
Hemochromatosis is one of the few genetic diseases for
which a simple effective therapy exits. Hemochromatosis
is treated by removing blood (phlebotomy) from the
patient in order to lower the level of iron. There is an
initial de-ironing phase, during which patients have
frequent phlebotomy to remove the accumulated iron. The
frequency and duration of this process varies among
individual patients, but typically consists of the
removal of 1-2 units of blood per week and this treatment
is continued until iron concentrations come within normal
limits. After this period, additional phlebotomy is
performed on an "as needed basis" to keep iron levels
within normal limits. When phlebotomy is begun early in
the course of the illness, it can prevent most late
symptoms and complications. Even when started after
complications have occurred, phlebotomy can decrease
symptoms and improve life expectancy.
Is it safe for people with hemochromatosis to donate blood?
The Food and Drug Administration (FDA) recently announced that blood from therapeutic phlebotomies for persons with iron overload could be used for transfusion if certain criteria are met: 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 should be referred to the FDA.
Should a hemochromatosis patient avoid iron fortified food?
Hemochromatosis patients do not need to avoid iron
containing foods. It is strongly recommended that
hemochromatosis patients NOT take vitamin-mineral dietary
supplements that contain iron. Similarly, no more than
500mg of vitamin C should be consumed because Vitamin C
increases iron uptake. Such patients should avoid
anything else that has the potential to cause liver
damage, such as alcohol consumption—more than mild
alcohol consumption should be avoided. In addition, since
iron overload patients are susceptible to infections,
particularly with Vibrio vullificus and
Salmonella enteriditis, they must also avoid the
consumption of raw shellfish and raw seafood which can
contain these bacteria.
What causes hereditary hemochromatosis?
Hereditary hemochromatosis is an inherited condition. It occurs when a person inherits two copies of a mutation, one from each parent. People with one copy of this mutation are carriers for the condition and usually have little or no excess accumulation of iron. It is estimated that 10% of the population are carriers for hemochromatosis. However, not all people with two genetic mutations develop signs and symptoms of the disorder during their lifetimes.
Are there other disorders that cause iron overload?
In the United States, the most frequent cause of iron
overload is hereditary hemochromatosis. However, there
are rare genetic disorders that also result in iron
overload such as neonatal hemochromatosis and juvenile
hemochromatosis. In addition, iron overload can result
from years of excess iron ingestion and repeated blood
transfusions.
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Office of Genetics and Disease Prevention (OGDP)
Hereditary Hemochromatosis: A Public Health Perspective
http://www.cdc.gov/genomics/info/perspectives/hemo.htm
National Institute of Diabetes, Digestive and Kidney
Diseases (NIDDK)
http://www.niddk.nih.gov/health/digest/pubs/hemochrom/hemochromatosis.htm
Iron Disorders
Institute*
http://www.irondisorders.org/
American Hemochromatosis Society, Inc.*
http://www.americanhs.org/about1.htm
University of Utah Genetic Science Learning Center—Basic
Genetics Information*
http://gslc.genetics.utah.edu/basic/
Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, et al. Hereditary hemochromatosis. Gene discovery and its implications for population-based screening. JAMA 1998;280(2):172–8.
Cogswell ME, Burke W, McDonnell SM, Franks AL. Screening for hemochromatosis. A public health perspective. Am J Prev Med 1999;16(2):134-140.
BIOIRON Conference, August, 20001, Cairns, Australia:
An introduction and the abstracts from the World Congress
on Iron Metabolism are available in the Journal of
Clinical Gastroenterology, March 2002. Vol 34.
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