Possible Major Progress on Beta-Thalassemia, Hemochromatosis, and Polycythemia Vera

Two studies led by investigators at Weill Cornell Medical College in New York City 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 on March 17, 2013 in Nature Medicine and the other published online on March 25, 2013 in an open-access article in 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 (i.e., hemochromatosis caused by a defect in the HFE gene) and a novel approach to the treatment of the rare blood disorder called 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.
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