What is hemochromatosis?

Originally Published: February 2, 2001 - Last Updated / Reviewed On: August 16, 2012
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Dear Alice,

Recently my mother was diagnosed with hemochromatosis. I was hoping that you could provide me with some information relating to this, as I believe it is a genetic disorder and that it is possible that I may also have it. Is there anything I should do? I am a twenty-two-year-old male.

Dear Reader,

Hemochromatosis (a.k.a., iron overload disease) is a disorder that causes the body to metabolize iron improperly, allowing too much to enter the blood stream. As a result, excess amounts of iron in the blood can be absorbed or stored by the body, causing serious tissue and organ damage if not removed. Most people who develop hemochromatosis have inherited a gene that predisposes them to this disorder. Very rarely, it can also develop as a result of receiving multiple blood transfusions or taking excessive amounts of iron supplements.

More than one million Americans have hemochromatosis, and men are about ten times more likely to have this condition than women. The life-threatening potential of hemochromatosis emphasizes the importance of early diagnosis (before symptoms appear) and treatment, especially since many people at risk don't even know that they have it or carry the gene. If caught in time, hemochromatosis is a completely manageable disease. Symptoms of hemochromatosis usually don't show up until middle age and include:

  • Chronic fatigue
  • Arthritis
  • Bronze skin tone
  • Signs of hypogonadism (e.g., impotence, infertility, missed periods, decreased sex drive, sparse body hair)
  • An abnormally enlarged liver
  • Diabetes
  • Heart disease

Since hemochromatosis is a recessive trait, it is expressed only if both parents contribute a recessive gene to their offspring. Given that your mom has hemochromatosis, it is likely that you already carry the gene. Your risk of having hemochromatosis then depends on whether or not your father's side of the family has a history of the disease and if your father is a carrier of the gene.

To find out whether you have hemochromatosis only requires a simple DNA genetic test. This test is a painless, bloodless, swab of the cheek. Test results are available within a few days.  Alternatively, your health care provider can measure the amount of iron circulating in your system with a simple blood test. If your levels are high, follow-up tests, including genetic testing with a genetic counselor, can be ordered to confirm the diagnosis.

Treatment for hemochromatosis is easy and straightforward. Regularly scheduled bloodletting (also called therapeutic phlebotomy or TP) can bring blood iron down to safe levels. One fairly new way to do this is by blood donation. This allows patients with hemochromatosis to receive free treatment, and also provides a vital resource for others who urgently need blood.

The American Hemochromatosis Society is a non-profit organization dedicated to the education and support of people with hemochromatosis and their families. For more information on the disease, referrals for treatment, and support networks, you can call the toll-free hemochromatosis hotline at (888) 655-IRON (-4766).

Alice