by Rosenblum LB

IMAGE In his mid-40s, 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 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. Hemochromatosis is a common cause of iron overload. Excess iron builds up the heart, liver, joints, pancreas, and pituitary gland. If untreated, it can cause organ damage, and lead to a heart attack, diabetes, cirrhosis of the liver, arthritis, depression, and premature death. The mutated gene for hemochromatosis can be passed on to your offspring.

Why Is This Disorder Often Undiagnosed or Misdiagnosed?

Sometimes people with hemochromatosis are misdiagnosed as having other disorders, including arthritis, diabetes, heart problems, liver/gallbladder disease, or various stomach disorders. Many people with hemochromatosis 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 hemochromatosis. Specific blood tests are needed. What is most important is that with early diagnosis and treatment people with hemochromatosis 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 hemochromatosis, 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 series of blood tests can diagnose most cases of hemochromatosis. 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 hemochromatosis is also available. The test is used in some cases to confirm a diagnosis of hemochromatosis 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 hemochromatosis 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. When normal levels are reached, blood must be removed as needed to prevent build up of excess iron.

Although it is not necessary to make significant dietary changes, you may be advised to:

  • Avoid iron and vitamin C supplements
  • Avoid raw shellfish
  • Limit or avoid alcohol

Can You Avoid the Side Effects of Hemochromatosis?

Since hemochromatosis 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. If you find out that you have hemochromatosis, tell your relatives, especially males, to have the tests done as soon as possible.

Everyone at risk should have the hemochromatosis blood tests by age 40, which will diagnose most people with hemochromatosis before organ damage occurs. Whether or not you have hemochromatosis, 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 hemochromatosis. 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.


American Hemochromatosis Society 

Iron Disorders Institute 


Alberta Health 

Health Canada 


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.

Crownover BK, Covey CJ. Hereditary hemochromatosis. Am Fam Physician. 2013;87(3):183-190.

Hemochromatosis. EBSCO DynaMed Plus website. Available at: . Updated February 17, 2017 Accessed August 12, 2015.

Hemochromatosis: how to get tested. American Hemochromatosis Society website. Available at: Accessed August 12, 2015.

Revision Information