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Genetic Cause for Iron Deficiency Found

Posted on: Wednesday, 16 April 2008, 12:00 CDT

U.S. medical scientists say they've discovered a gene for a rare form of inherited iron deficiency that might suggest new treatments for the disorder.

Iron deficiency is the most common nutritional deficiency and the leading cause of anemia in the United States. Most cases are easily reversed with oral iron supplements, but Dr. Mark Fleming of Children's Hospital Boston and former CHB pediatric hematologist Dr. Nancy Andrews studied children with iron deficiency anemia who didn't respond to oral supplements.

The cause of their condition -- termed iron-refractory iron-deficiency anemia, or IRIDA -- was unknown, but Fleming and Andrews said they were convinced genetics was a factor.

They and colleagues Drs. Karin Finberg and Matthew Heeney found mutations in a gene called TMPRSS6 (the acronym stands for transmembrane serine protease S6) in all the families studied, as well as several patients without a family history of the disorder.

Although IRIDA is quite rare, the authors posit it might be the extreme end of a broad continuum of disease.

Our observations suggest more common forms of iron deficiency anemia may have a genetic component, said Andrews.

The findings appear in the online edition of the journal Nature Genetics.


Source: United Press International

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