Inherited disorder puts the body on iron overload
Bloodletting can prevent damage to major organs from hemochromatosis
By Dennis Thompson
HealthDay Reporter
(HealthDay News) -- Few chronic diseases are treated as simply as hemochromatosis, using one of the oldest medical treatments in the books, stretching back to medieval times.
Basically, the patient is bled.
Hemochromatosis is an inherited disease in which the body absorbs and stores too much iron, according to the U.S. National Institutes of Health. As the iron collects, it can cause organ damage, joint pain and other serious systemic problems.
The easiest and safest way to remove the excess iron is to bleed the person with hemochromatosis, said Dr. Bruce Bacon, a professor of internal medicine and director of gastroenterology and hepatology at Saint Louis University School of Medicine.
"The treatment is simple: It's taking blood off," Bacon said. "By taking off a pint of blood, you take off 250 milligrams of iron. You take the blood off, and patients will gradually become depleted of their excess iron."
July has been designated Hemochromatosis Awareness Month, a chance for doctors and medical experts to spread the word about the disease.
It's one of the most common inherited disorders in the United States , where about a million people, mostly whites, have hemochromatosis, according to the NIH.
"It's the most common genetic disorder of people from northern European countries," said Dr. Herbert L. Bonkovsky, vice president for research of Carolinas HealthCare System and professor of biology at the University of North Carolina and UNC Charlotte. "It's totally curable. All the bad effects are avoidable through prompt and effective treatment."
Hemochromatosis is mainly caused by a defect in a gene named HFE, according to the NIH. This gene helps regulate the amount of iron the body absorbs from food.
"Studies show that the genetic mutation is found in about one in 220 individuals in the United States , but not everyone who has the genetic mutation has the disease," Bacon said. "About half of people who have the mutation don't have the disease. We don't know exactly why that is. We're trying to figure out why some people don't have the expression of the disease, even though they have the same genetic makeup. It's probably other genetic interactions that have yet to be fully identified."
People normally absorb about 10 percent of the iron contained in the food they eat. Those with hemochromatosis, however, absorb up to 30 percent of the iron content in their food and, over an extended period, can retain five to 20 times more iron than the body needs.
As iron builds up in the tissues, it begins to wreak havoc on the body. The worst damage tends to take place in the major organs.
"The main damage is first and foremost to the liver because that's the place where excess iron is stored in the body," Bonkovsky said. People with hemochromatosis are more likely to suffer from liver diseases such as cirrhosis, cancer and liver failure.
Iron buildup also affects the heart. People with the disease are more likely to have an irregular heartbeat, and they have a higher risk for congestive heart failure.
The pancreas also can be damaged by hemochromatosis. Because the pancreas produces insulin, people with hemochromatosis are more likely to develop diabetes.
Iron also builds up in people's joints, causing terrible arthritis. "I've seen people with crippling osteoarthritis of the ankles, knees and hips by their early 30s," Bonkovsky said. "That should be a clear warning sign of hemochromatosis."
To treat the disease, phlebotomy -- the removal of blood from the body -- is used. At first, as much as one pint of blood a week might be drawn from someone with the disease, although the amount of blood drawn decreases as the iron buildup in the tissues decreases.
The blood can be taken in a doctor's office, but some people with hemochromatosis become champion-level blood donors, Bonkovsky said.
People also are given a set of guidelines to follow, according to the U.S. Centers for Disease Control and Prevention. They're told to avoid:
- Any multivitamin that contains iron
- Vitamin C, as it can boost the body's ability to absorb iron
- Red meat, which contains high levels of iron
- Alcohol, which can exacerbate the liver damage caused by iron overload
Because hemochromatosis is inherited, immediate family members of people who have been diagnosed with the disorder should undergo genetic and blood testing to see if they either have the disease or carry the genetic abnormality that can cause it.
If the disease is caught before organ damage occurs, it can have little to no effect on a person's life, Bacon said.
"It's relatively common. It's easily diagnosed. It's easily treated," he said.
On the Web
To learn more about hemochromatosis, visit the Iron Disorders Institute.
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