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For Rare Blood Disorder, Pumping Iron Is the Cure
Date:8/25/2008

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 i
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