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Researchers decode biology of blood and iron disorders mapping out novel future therapies
Date:3/25/2013

NEW YORK (March 25, 2013) -- Two studies led by investigators at Weill Cornell Medical College shed light on the molecular biology of three blood disorders, leading to novel strategies to treat these diseases.

The two new studies -- one published online March 17 by Nature Medicine and the other March 25 in the online edition of the Journal of Clinical Investigation -- propose two new treatments for beta-thalassemia, a blood disorder which affects thousands of people globally every year. In addition, they suggest a new strategy to treat thousands of Caucasians of Northern European ancestry diagnosed with HFE-related hemochromatosis and a novel approach to the treatment of the rare blood disorder polycythemia vera.

These research insights were only possible because two teams that included 24 investigators at six American and European institutions decoded the body's exquisite regulation of iron, as well as its factory-like production of red blood cells.

"When you tease apart the mechanisms leading to these serious disorders, you find elegant ways to manipulate the system," says Dr. Stefano Rivella, associate professor of genetic medicine in pediatrics at Weill Cornell Medical College.

For example, Dr. Rivella says, two different gene mutations lead to different outcomes. In beta-thalassemia, patients suffer from anemia -- the lack of healthy red blood cells -- and, as a consequence, iron overload. In HFE-related hemochromatosis, patients suffer of iron overload. However, he adds, one treatment strategy that regulates the body's use of iron may work for both disorders.

Additionally, investigators found another strategy, based on manipulating red blood cell production, could also potentially treat beta-thalassemia as well as a very different disorder, polycythemia vera.

Revealing the Third Crucial Player

In the Nature Medicine study, Dr. Rivella and his colleagues tackled
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Contact: Lauren Woods
Law2014@med.cornell.edu
646-317-7401
Weill Cornell Medical College
Source:Eurekalert

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