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What You Don't Know About Excess Iron Could Kill You


In his mid-forties, Bill was a successful businessman and happy with his family life. But then he began to feel tired and depressed. He had pain in his joints and belly, and his skin took on a yellowish tinge. After several years of medical visits and various diagnoses of depression, mid-life crisis, arthritis, and a stress-induced digestive disorder, a few simple blood tests finally revealed that he had hemochromatosis. Bill's story is not unique. Many Americans have this genetic disorder, and many do not know it.

What Is Hemochromatosis?

Hemochromatosis (HH) is a condition that causes the body to absorb and store too much iron. Some iron is essential for carrying oxygen in the blood to organs and tissues, but too much is toxic. HH is a common cause of iron overload. Excess iron accumulates in organs such as the heart, liver, joints, pancreas, and pituitary gland. If untreated, this accumulation can cause organ damage, and lead to heart attack, diabetes, cirrhosis of the liver, arthritis, depression, and premature death. The gene for hemochromatosis was isolated in 1996. The mutation can be passed on to offspring.

Why Is This Disorder Often Undiagnosed or Misdiagnosed?

Sometimes people with HH are misdiagnosed as having other disorders, including arthritis, diabetes, heart problems, liver/gallbladder disease, or various stomach disorders. Many people with HH do not know they have it. Symptoms do not usually occur in the early stages and may not even occur in advanced cases. And diagnosis is further complicated by the fact that routine blood tests do not reveal HH; specific blood tests are needed. What is most important is that with early diagnosis and treatment people with HH can lead normal, active lives and prevent serious organ damage. If the disorder is already severe, treatment can alleviate some symptoms, help prevent further complications, and reduce the chances of premature death.

Who Is at Greatest Risk for Hemochromatosis?

People who have a relative with HH, especially a sibling, are at highest risk. People of Irish, Scottish, and Northern European descent are also at increased risk. The disorder develops most often in older men; however, it also occurs in women, especially in the postmenopausal period.

Many people with hemochromatosis have no symptoms. When symptoms do occur, they include the following:

  • Chronic fatigue (the most common symptom)
  • Joint pain/arthritis
  • Loss of sex drive
  • Abdominal pain
  • Depression
  • Change in skin color, such as jaundice, reddish, or gray-olive

A simple, inexpensive series of blood tests can diagnose most cases of HH. These tests check the levels of iron and ferritin (a protein that helps store iron) in the blood, the total iron binding capacity (TIBC), and the percentage of transferrin iron saturation (the iron level divided by the TIBC). If further tests are necessary, liver enzymes are checked and a liver biopsy may be performed.

A DNA-based test for gene mutations responsible for HH is also available. The test is used in some cases to confirm a diagnosis of HH in people with elevated iron levels who have a relative with an established case of the disorder.

How Is Hemochromatosis Treated?

The main form of treatment for HH is therapeutic phlebotomy, which involves having a certain amount of blood drawn to remove the excess iron from the body. At first, phlebotomy may be necessary 1-2 times per week until iron levels return to normal. This could take from a few months to over a year, depending on the amount of excess iron in the body. Once normal levels are reached, blood must be removed around 2-4 times per year to prevent reaccumulation of excess iron.

Following certain dietary recommendations can also help decrease the rate of iron reaccumulation. These include avoiding supplemental iron, and limiting the intake of red meat and iron-fortified cereals. Because large amounts of vitamin C enhance iron absorption and cast iron cookware leaches iron into the intestinal tract, vitamin C supplements and cast iron pots and pans should also be avoided. Drinking tannin-rich tea, on the other hand, may help reduce iron-absorption. Remember that dietary restrictions do not cure hemochromatosis; phlebotomy is still necessary to remove the excess iron that has already built up. To avoid liver damage, alcohol should be limited and raw shellfish should be avoided.

Can You Avoid the Side Effects of Hemochromatosis?

Since HH can now be easily diagnosed and treated, there is no reason to suffer from this potentially disabling and fatal disorder. If you think that you or a family member have the condition, call your healthcare provider right away to have the appropriate blood tests drawn. If you find out that you have HH, tell your relatives, especially males, to have the tests done as soon as possible.

Everyone at risk should have the HH blood tests by age 40, which will diagnose most people with HH before organ damage occurs. Whether or not you have HH, you can help spread the word by telling your family and friends.

As for Bill, after a year of weekly phlebotomy treatments, most of his symptoms are gone. He still has some arthritis but is able to lead a fairly normal life. If he has his blood drawn several times a year for the rest of his life, he won't develop any further problems from HH. Since the condition is hereditary, his teenage son and daughter now know they need to have their iron levels tested so that if they do have the disorder, any elevation in iron is caught and treated before damage can occur.

RESOURCES:

American Hemochromatosis Society
http://www.americanhs.org

Iron Disorders Institute
http://www.irondisorders.org

Iron Overload Diseases Association
http://www.ironoverload.org

CANADIAN RESOURCES:

Health Canada
http://www.hc-sc.gc.ca

Healthy U
http://www.healthyalberta.com

References:

Franchini M, Veneri D. Hereditary hemochromatosis. Hematology. 2005;10:145-149.

Bryant J, Cooper K, Picot J, et al. Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation. Health Technol Assess. 2009 Apr;13(23):1-126.

Hemochromatosis. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/. Updated March 14, 2013. Accessed April 1, 2013.

Hemochromatosis: How to Get Tested. American Hemochromatosis Society website. Available at: http://www.americanhs.org/testing.htm. Accessed April 1, 2013.

Qaseem A, Aronson M, Fitterman Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. Ann Intern Med. 2005;143(7):517-521



Last reviewed April 2013 by Brian Randall, MD

Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.

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