Life-threatening disorder that includes excess production of red blood cells like Chuvash polycythemia can be treated with Tempol, find scientists at the National Institutes of Health. Tempol is an experimental drug being studied for treatment of diabetes, cancer and other diseases in mice. The research promises to offer Tempol or a similar drug to treat humans with polycythemias, a serious blood complication experienced in low-oxygen, high-altitude settings like mountain sickness. The findings of the study are published in the journal The Journal of Clinical Investigation .
Chuvash polycythemia is a rare, inherited disorder that is endemic to the Chuvash Republic of Russia, though it does occur in other parts of the world. NIH studies rare diseases not only to help the people who have them, but also to gain insight into gene functions that may benefit people with more common conditions.
Complications of Chuvash polycythemia include blood clots and cerebral hemorrhage. The condition results from a genetic mutation that makes people unable to break down hypoxia inducible factor 2α (HIF2α), a protein that helps stimulate red blood cell production. The inability to degrade HIF2α leads to higher red cell production, even under high-oxygen conditions.