Demystifying Medicine - Sickle Cell Anemia: Treatable and/or Curable?

Demystifying Medicine Lecture Series Although the fundamental molecular pathophysiology of sickle cell anemia was elucidated in studies of this genetic disease starting more than 70 years ago, it is only in about the last two decades that this knowledge has led to specific therapies. Indeed in the last decade serious attention has turned to the possibility of a genetic cure of this condition. Have we finally cured sickle cell anemia? Not quite, but we may be on the cusp. Really. In a dozen clinical trials planned or underway, some at the NIH Clinical Center, researchers are applying gene therapy to cure this well-studied genetic disorder that causes agonizing pain attacks, stroke, and early death. Sickle cell anemia (SCA) is the most common manifestation of sickle cell disease (SCD), which is caused by a single gene mutation on chromosome 11 inherited from both of one's parents. The mutation results in the periodic creation of sickle hemoglobin (HbS), as opposed to normal hemoglobin (HbA). The HbS distorts the shape of round blood cell into a sickle, which impedes the flow of cells, particularly in narrow vessels, and prevents oxygen from reaching tissues. More than 4.4 million people have SCD worldwide, including about 100,000 in the United States, mostly of African descent. Treatment is complicated by inadequate and inequitable access to health care. Our first speaker is Alan Schechter, chief of NIDDK's Molecular Medicine Branch. Dr. Schechter will discuss an overview of th...
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