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For Rare Blood Disorder, Pumping Iron Is the Cure

Doctors say bloodletting is the best available option for people with hemochromatosis

MONDAY, Aug. 25, 2008 (HealthDay News) -- Bloodletting is often dismissed as a primitive form of medicine, in which early doctors attempted to rid the body of bad humors by draining the life-sustaining fluid.

But there's at least one disease left where bloodletting is still the preferred means of treatment.

Hemochromatosis is an inherited disease in which the body becomes overloaded with iron. When that occurs, the iron builds up in organs and tissues, causing slow damage from within that prompts a multitude of symptoms and illnesses.

"Until people get sick, they don't usually know it's there," said Gerald Koenig, director of the Iron Disorders Institute. "We think it's the most underdiagnosed disease in the country."

There are about one million people in the United States with a genetic predisposition for contracting hemochromatosis, Koenig said. "About 150,000 can expect to get sick, some very much so," he said.

Hereditary hemochromatosis is one of the most common genetic disorders in the United States, most often affecting Caucasians of northern European descent, although other ethnic groups are also at risk, according to the U.S. National Institutes of Health.

Iron is an important micronutrient for the human body and is found in many foods, mainly in red meat and iron-fortified breads and cereals. In the body, iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues.

"Most people maintain just the right amount of iron in their bodies," Koenig said. "It varies by a gram or two between people."

But hemochromatosis causes the body to absorb too much iron from food, with the metal collecting over a period of years in such organs as the heart, liver and pancreas. Depending on how each person's body deals with the excess iron, the symptoms of hemochromatosis can vary widely.

And this makes it very hard to diagnose the true disorder accurately, said Eugene Weinberg, professor emeritus of biology and microbiology and immunology at the Indiana University School of Medicine, in Indianapolis.

"It takes a while for even an astute physician to detect," Weinberg said. "It's interesting how different the presentation is from patient to patient. It's such a jumble, and that's what puts a burden on the general practitioner."

Blood tests, combined with a thorough family medical history, usually are used to narrow the diagnosis down to hemochromatosis.

But, iron levels aren't usually tested during normal blood screening, Weinberg said. Patients must request the testing, although some experts are working to make it part of medical checkup screenings.

"We're tying to get an iron test put in there, so we can get at iron loading," he said.

Cirrhosis of the liver is one of the most common diseases resulting from hemochromatosis, Koenig said. "Ninety percent of the iron absorbed will go to the liver," he said, adding that the disorder can also cause enlarged liver, cancer of the liver or liver failure.

Joint pain and severe arthritis in the fingers are other very common symptoms, Weinberg said. "If a person comes in and can't open their fist, that's referred to as 'iron fist,' " he said.

Undiagnosed and untreated, hemochromatosis increases the risk for diseases and conditions such as diabetes, irregular heart beat or heart attack, arthritis, cirrhosis of the liver or liver cancer, depression, impotence, infertility, hypothyroidism, and some cancers, according to the NIH.

The NIH lists other common symptoms and diseases related to hemochromatosis, including:

  • Fatigue or lack of energy.
  • Loss of sex drive or impotence.
  • Early menopause.
  • Abnormal pigmentation of the skin, making it look gray or bronze.
  • Thyroid deficiency.
  • Damage to the adrenal glands.

Some people might not suffer any problems at all. Weinberg said there's a 100-year-old retired faculty member he knows who has a very high iron load but no ill effects from it.

"Here's a person who was able to tuck away the iron without it causing destruction of the organs," Weinberg said. "And yet there are other people who can't handle it."

The best means of treating hemochromatosis is phlebotomy, Koenig said -- bloodletting, one of the most ancient, and mostly discredited, forms of medical treatment. But, in this case, the draining of blood forces the body to process its excess iron.

"When you take blood out of the body, iron stored in body tissue is used to make new blood," Koenig said.

Some hemochromatosis sufferers can give blood as frequently as twice a week to stay healthy, very often to blood banks. "Most people only are allowed to give blood once every seven weeks," Koenig said.

Oral medications that would help the body better rid itself of iron are being tested, but, for the time being, bloodletting is the most simple and pain-free way to help sufferers lead normal lives, he said.

More information

To learn more about hemochromatosis, visit the Iron Disorders Institute.

SOURCES: Gerald Koenig, director, the Iron Disorders Institute, Greenville, S.C.; Eugene Weinberg, Ph.D., professor emeritus of biology and microbiology and immunology, Indiana University School of Medicine, Indianapolis; U.S. National Institutes of Health, Bethesda, Md.
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