Blood Diseases and Disorders
Sickle Cell Disease
Sickle cell disease is an inherited disorder caused by an abnormal form of hemoglobin - the oxygen-carrying substance in red blood cells. When a red blood cell containing the abnormal hemoglobin releases its oxygen, the hemoglobin becomes distorted, causing the normally round red blood cell to assume the shape of a sickle. These sickle-shaped cells can obstruct blood flow in small capillaries, and destruction of the defective cells can lead to anemia in affected children. Children born with sickle cell disease can suffer from many symptoms, such as pain, strokes, increased infections and other complications.
Thalassemia is another inherited disorder. Children with thalassemia are unable to make enough of one of the two main protein chains that form hemoglobin - the oxygen-carrying substance in red blood cells. They can suffer from symptoms of anemia as their bodies destroy their defective red blood cells faster than they can make functional versions.
Children who have inherited hemophilia are unable to produce one of the proteins - or factors - necessary for blood clotting. As a result, they can bleed excessively from even minor injuries. Because the defective genes are located on the X chromosome, nearly all sufferers are male.
Our researchers are leaders in the field of investigating gene therapy approaches to the treatment of this disease.
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