Hemochromatosis

Topic Overview

What is hemochromatosis?

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.

The most common type of hemochromatosis runs in families. But people sometimes get it from having a lot of blood transfusions, certain blood problems, liver disease, or alcoholism, or from taking too many iron pills.

Men are much 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 pregnancy.

What are the symptoms?

Symptoms often don't appear until a person is 40 or older. This is because extra iron builds up slowly throughout the person’s life.

The early symptoms are somewhat vague or subtle. So this disease is sometimes mistaken for another condition. Early symptoms include:

  • Tiredness.
  • Weakness.
  • Pain in the joints.
  • Weight loss.
  • Pain in the belly.
  • Decreased sex drive.
  • A change in skin color (it gets darker).
  • Urinating more often.

How is hemochromatosis diagnosed?

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 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.

How is it treated?

Treatment can reverse most symptoms and prevent damage to the liver, heart, and other organs. It involves getting rid of the extra iron in your body, usually by having blood taken out of your body on a regular schedule. Most people need to do this for the rest of their lives.

Sometimes medicines called chelating agents are used. These medicines gather up excess iron and remove it through the urine or stool.

Don't take extra vitamin C pills if you have hemochromatosis. Taking too much vitamin C can cause your body to absorb more of the iron you eat. But it’s okay to eat and drink foods that naturally contain vitamin C.

Can hemochromatosis be prevented?

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, early treatment can sometimes keep you from getting it.

And if you do get it, treating it early can reverse most symptoms and prevent future problems.

Getting this disease by eating too much iron in your food is rare. But it’s always good to pay attention to how much iron you are getting in vitamins and the foods you eat.

Frequently Asked Questions

Learning about hemochromatosis:

Being diagnosed:

Getting treatment:

Ongoing concerns:

Living with hemochromatosis:

Symptoms

Symptoms of hemochromatosis often don't appear until a person is 40 to 60 years old. This is because iron buildup usually develops slowly throughout a person's life.

Symptoms include:

  • Fatigue.
  • Joint pain, usually in the hands, hips, knees, and/or ankles.
  • Weakness.
  • Weight loss.
  • Abdominal pain.
  • Change in skin color.
  • Decreased sexual drive, including impotence.
  • Increased urination.

Without treatment, hemochromatosis will continue storing iron in the body. When iron levels are dangerously high, organ and tissue damage can result. You could develop other conditions, such as diabetes and arthritis.

Complications of advanced hemochromatosis

Liver damage is common in later stages of hemochromatosis. Types of liver damage may include:

Serious heart problems may result from hemochromatosis, including:

Hypogonadism, which affects the sexual organs of men and women, is another possible complication of hemochromatosis. Symptoms may include:

  • Loss of body hair (men).
  • Breast enlargement (men).
  • Shrinkage (atrophy) of the testicles (men).
  • Decreased sexual drive (men and women).
  • Erection problems (men).

Advanced hemochromatosis may also cause:

  • Diabetes.
  • Painful joints.
  • Darkened skin color (bronze to metallic gray).
  • An enlarged spleen.
  • Redness of the palms.

Going without treatment for hemochromatosis can shorten your life. The major causes of hemochromatosis-related deaths are:

  • Liver failure (cirrhosis).
  • Liver cancer (hepatocellular carcinoma, or HCC).
  • Diabetes.
  • Cardiomyopathy.

Exams and Tests

A complete medical history and physical exam are usually the first steps in diagnosing hemochromatosis. Important information for your medical history includes your:

  • Health conditions, including pattern of blood loss, as might happen in menstruation or with pregnancy.
  • Close family members' health conditions.
  • Past or current symptoms of hemochromatosis.
  • Diet.
  • Sexual function.
  • Use of iron supplements, both over-the-counter and prescription.
  • History of blood donations or transfusions.

Women may hear questions about their menstrual patterns, pregnancies, use of birth control, and symptoms of menopause. Women lose some iron during their monthly cycle, so it's helpful for doctors to know this information. When regular blood loss stops because of menopause, pregnancy or some birth control methods, iron can start collecting in the body's tissues if the woman has hemochromatosis.

Common blood tests to help diagnose hemochromatosis are:

Other tests that may be done include:

  • Blood tests to find out whether you have problems related to hemochromatosis, such as diabetes or liver disease.
  • A complete blood count and blood smear, to measure hemoglobin concentrations and hematocrit levels that may suggest specific blood disorders (such as thalassemia), which could increase your risk of developing acquired hemochromatosis.
  • A genetic test for hereditary hemochromatosis, which may find a defect in a gene named HFE. Many people with hereditary hemochromatosis have defects in this gene. If you find out you have this condition, your family members may want to get tested. It is best to get tested between the ages of 18 and 30 when tests can usually detect the disease before serious organ damage occurs.

Hemochromatosis is an autosomal recessive disorder that can be passed to a child from the parents. You may want to talk with a genetic counselor if your parents, brothers, sisters, and/or children have this condition.

Other tests done during the course of the disease may include:

  • Liver biopsy (sample of liver tissue), to confirm that hemochromatosis is present and to help find out whether you have cirrhosis or other types of liver damage.
  • CT scan or MRI.
  • Alpha-fetoprotein levels, a blood test that looks for higher levels of a protein that occurs with liver cancer.

Screening for hemochromatosis

Screening is advised for people at high risk of developing hemochromatosis. If your doctor finds that you are at high risk, diagnostic tests may reveal if you have this condition. The earlier you discover this condition and get treatment, the better chance you have of avoiding life-threatening complications.

Screening is recommended if you have: 1
Symptoms such as: No symptoms but you have:
  • Liver disease with no clear cause.
  • Liver disease with known cause and abnormal serum iron test results.
  • Type 2 diabetes , particularly with:
    • Enlarged liver.
    • Elevated liver enzymes.
    • Cardiac disease.
  • Early-onset and unexplained joint pain, heart disease, or male sexual dysfunction.
  • Low levels of sex hormones.
  • A parent, brother or sister, or child with a confirmed case of hemochromatosis.
  • Abnormal serum iron test results.
  • Unexplained elevation of liver enzymes.
  • Unexplained liver enlargement.
  • A CT scan that shows thinning or weakening of the tissue of the liver.
  • Skin that gets darker for no obvious reason.

Hemochromatosis probably is underdiagnosed because:

  • Hemochromatosis takes a long time to develop.
  • Symptoms of hemochromatosis are often vague.

Most medical experts do not think it is helpful to screen for hemochromatosis in the general population using blood tests or genetic tests. The U.S. Preventive Services Task Force (USPSTF) does not recommend genetic screening for hemochromatosis in the general population.2 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.

Treatment Overview

Treatment for hemochromatosis can:

  • Safely and rapidly remove excess iron from the blood.
  • Limit the progression and possible complications of the disorder.
  • Prevent organ damage.

Doctors treat hemochromatosis by removing the extra iron in the body. Phlebotomy is most often the first choice, because it's safer and quicker than injecting medicine (chelation therapy).3

  • Phlebotomy is a procedure that removes blood from the body in a process similar to donating blood. Phlebotomy is the preferred method of treating most forms of hemochromatosis. Most people with hemochromatosis need regular phlebotomy throughout their lives. Doctors will monitor the serum ferritin levels to make sure treatment is lowering iron stores.
  • Chelating agents are medicines that help your body get rid of excess iron. The chelating agents deferoxamine and deferasirox bind to iron in your blood. The chelating agent and iron leave your body through urine or stool. Doctors can use deferoxamine or deferasirox treatment if you cannot have phlebotomy.

Treatment for hemochromatosis can reverse most symptoms and prevent complications. If treatment begins before liver damage (cirrhosis) develops, a person with hemochromatosis may have a normal life span.

Initial treatment

Many doctors advise regular phlebotomy for people who are diagnosed with hemochromatosis, even if they do not yet show symptoms. Depending on the amount of iron in your blood, it may take 30 or more phlebotomies to bring your iron levels down to the desired level. Treatment usually begins with phlebotomy once or twice a week until iron levels are in a target range. Most people are free of early-stage symptoms soon after phlebotomy begins. Weekly treatment continues until:

  • Ferritin iron levels are less than 50 nanograms (ng) per milliliter.
  • Transferrin saturation levels are less than 50%.
  • Hemoglobin concentration levels off. The ideal levels are not the same for men and women.

After levels are stable, you'll have fewer phlebotomy treatments, first monthly and then about every 3 months. The goal is keeping serum ferritin levels normal (about 50 ng per milliliter).1 The mild iron deficiency that regular phlebotomy causes will protect the body from excess iron buildup in the future.

Phlebotomy is not possible for all people. In these cases, doctors use medicines known as chelating agents (deferoxamine or deferasirox) to remove excess iron. Deferoxamine is slowly injected under the skin (subcutaneously) daily. You can use a portable pump to inject the medicine. This is something you can do at home. Deferasirox is taken by mouth.

Chelating agents remove excess iron from your body through urine or stool. It's a slower process than phlebotomy, taking twice as long. It also means you'll need more treatments to lower iron stores back to normal.

Hemochromatosis caused by blood transfusions or vitamin overdoses often does not need further chelating treatment after you've reached normal iron levels. The cause of the condition must be found and stopped before treatment begins.

Ongoing treatment

Most people with hemochromatosis need regular phlebotomy throughout their lives. Ferritin iron levels and serum transferrin saturation levels are monitored throughout treatment. You may need phlebotomies every 2 to 3 months. Some people, especially older adults, may not need maintenance phlebotomy as often, because they may have a medical condition that causes iron levels to lower (anemia).

If you cannot have phlebotomy, you may inject a chelating agent (deferoxamine) to remove excess iron. This is something you can learn to do at home. There is also a pill taken by mouth (deferasirox).

Throughout treatment, your doctor will monitor your condition. You may have a number of procedures done to watch for complications, such as liver damage, heart disease or cancer. Monitoring of hemochromatosis may include:

Treatment if the condition gets worse

Phlebotomy may help with advanced (late-stage) hemochromatosis. Phlebotomy treatment can improve some symptoms and in some cases may prevent further damage. But phlebotomy usually does not reverse advanced complications of late-stage hemochromatosis, such as liver damage, heart failure, or diabetes. People with organ damage or other complications from advanced hemochromatosis may require treatment that is specific to the problem.

What to think about

Chelating agents are medicines that treat hemochromatosis when you cannot have phlebotomy. Conditions that might require this treatment include:

  • Anemia caused by other blood disorders.
  • Severe hemochromatosis that is resistant to phlebotomy treatment.
  • An intolerance for phlebotomy.
  • A transfusion-dependent illness, such as hemophilia.

Frequent phlebotomy, especially in the beginning of treatment, may cause symptoms of mild anemia (weakness and fatigue). Getting rest and drinking plenty of fluids often help to relieve these symptoms. Avoiding physical activity for 24 hours after phlebotomy can help too. Do not take iron for these symptoms. That only adds to the iron overload problem.

Home Treatment

There are steps you can take at home to treat hemochromatosis.

  • Avoid alcohol. Alcohol increases the amount of iron that your intestines absorb and can contribute to liver damage.
  • Do not take extra vitamin C supplements (more than 200 mg a day), which can increase the absorption of iron from your intestines.
  • Do not take nutritional supplements or vitamins that contain iron.
  • You may not need food restrictions when you have phlebotomy treatment, since the excess iron in your diet is small and easily removed. Discuss with your doctor how your diet should change, if at all. If you need to reduce the amount of iron in your diet, eat less red meat and organ meat, which contain a high amount of iron. You may want to avoid iron-fortified food, such as some breads and cereals.
  • Drink tea and coffee. These drinks—tea more than coffee—can cause your body to absorb less iron from the food you eat. Drinking these beverages does not replace usual treatment.
  • Do not use iron cookware. Food cooked in ironware can absorb some of the iron.
  • Avoid uncooked seafood. The bacterium Vibrio vulnificus found in warm coastal waters can contaminate sea life, especially shellfish. This bacterium is especially harmful to people who have hemochromatosis.

If you use an injectable chelating medicine to remove iron from your blood, learn to give it to yourself at home. You will have a tube (catheter) inserted under your skin, and you will put the medicine in the tube every night. This tube can stay under the skin for months at a time. Watch for signs of infection around the tube. These signs include increased pain, swelling, tenderness, warmth and redness, discharge of pus, or a fever of 100°F (37.8°C) or higher with no other cause. Keep the entry site of the catheter clean, and take care not to pull on it.

Other Places To Get Help

Organizations

Centers for Disease Control and Prevention (CDC): National Center on Birth Defects and Developmental Disabilities (NCBDDD)
1600 Clifton Road
Atlanta, GA  30333
Phone: 1-800-232-4636 (1-800-CDC-INFO)
TDD: 1-888-232-6348
E-mail: cdcinfo@cdc.gov
Web Address: www.cdc.gov/ncbddd
 

NCBDDD aims to find the cause of and prevent birth defects and developmental disabilities. This agency works to help people of all ages with disabilities live to the fullest. The Web site has information on many topics, including genetics, autism, ADHD, fetal alcohol spectrum disorders, diabetes and pregnancy, blood disorders, and hearing loss.


Genetics Home Reference, U.S. National Library of Medicine
8600 Rockville Pike
Bethesda, MD  20894
Phone: 1-888-FIND-NLM (1-888-346-3656)
Fax: (301) 402-1384
TDD: 1-800-735-2258
E-mail: custserv@nlm.nih.gov
Web Address: www.ghr.nlm.nih.gov
 

The Genetics Home Reference provides information on more than 250 genetic conditions. It also contains a glossary, a handbook, and other tools for learning about human genetics and the way genetic changes can cause disease. The Web site also has links to additional resources for people who have genetic conditions and for their families.


Iron Disorders Institute
P.O. Box 675
Taylors, SC  29687
Phone: 1-888-565-IRON (1-888-565-4766)
(864) 292-1175
Fax: (864) 292-1878
E-mail: patientservices@irondisorders.org
Web Address: www.irondisorders.org
 

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.


National Heart, Lung, and Blood Institute (NHLBI)
P.O. Box 30105
Bethesda, MD  20824-0105
Phone: (301) 592-8573
Fax: (240) 629-3246
TDD: (240) 629-3255
E-mail: nhlbiinfo@nhlbi.nih.gov
Web Address: www.nhlbi.nih.gov
 

The U.S. National Heart, Lung, and Blood Institute (NHLBI) information center offers information and publications about preventing and treating:

  • Diseases affecting the heart and circulation, such as heart attacks, high cholesterol, high blood pressure, peripheral artery disease, and heart problems present at birth (congenital heart diseases).
  • Diseases that affect the lungs, such as asthma, chronic obstructive pulmonary disease (COPD), emphysema, sleep apnea, and pneumonia.
  • Diseases that affect the blood, such as anemia, hemochromatosis, hemophilia, thalassemia, and von Willebrand disease.

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Building 31, Room 9A06
31 Center Drive, MSC 2560
Bethesda, MD  20892-2560
Phone: (301) 496-3583
Web Address: www.niddk.nih.gov
 

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) provides information and conducts research on a wide variety of diseases as well as issues such as weight control and nutrition.


References

Citations

  1. Tavill AS (2001). Diagnosis and management of hemochromatosis (AASLD Practice Guidelines). Hepatology, 33(5): 1321–1328.
  2. U.S. Preventive Services Task Force (2006). Screening for hemochromatosis. Available online: http://www.ahrq.gov/clinic/uspstf06/hemochromatosis/hemochrs.htm.
  3. Pietrangelo A (2004). Hereditary hemochromatosis—A new look at an old disease. New England Journal of Medicine, 350(23): 2383–2397.

Other Works Consulted

  • Means RT (2008). Red blood cell function and disorders of iron metabolism. In DC Dale, DD Federman, eds., ACP Medicine, section 5, chap. 2. Hamilton, ON: BC Decker.
  • Bacon BR, Britton RS (2006). Hemochromatosis. In M Feldman et al., eds., Sleisenger and Fordtran's Gastrointestinal and Liver Disease, 8th ed., vol. 2, pp. 1589–1599. Philadelphia: Saunders Elsevier.
  • Beutler E (2006). Disorders of iron metabolism. In MA Lichtman et al., eds., Williams Hematology, 7th ed., pp. 511–553. 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 Wilkins.

Credits

Author Robin Parks, MS
Editor Kathleen M. Ariss, MS
Associate Editor Pat Truman, MATC
Primary Medical Reviewer E. Gregory Thompson, MD - Internal Medicine
Specialist Medical Reviewer Brian Leber, MDCM, FRCPC - Hematology
Last Updated April 20, 2009

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