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Hemochromatosis

Most Common European Gene Disorder Is Really Rare

Published in Blood Weekly, February 7th, 2002

A disease once thought to be the most common genetic disorder of Europeans has now been shown by scientists at The Scripps Research Institute (TSRI) to be relatively rare.

In one of the largest DNA-based genetic epidemiological studies ever conducted, TSRI researchers, working with the Health Appraisal Clinic at Kaiser-Permanente in San Diego, California, examined the DNA and clinical data of some 41,000 patients, looking for the genetic disease hereditary hemochromatosis, a metabolic disorder in which excessive amounts of iron are deposited in the liver, pancreas and other organs.

Hereditary hemochromatosis can lead to cirrhosis of the liver,...

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