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Sickle Cell Disease | Niche & Rare Disease Landscape & Forecast | US/EU5 | 2016

Sickle cell disease (SCD) is a genetic disorder characterized by abnormality in the oxygen-carrying protein hemoglobin. The gene mutation underlying the disease results in the amino acid valine replacing glutamic acid at the sixth position of hemoglobin’s β globin chain, leading to hemoglobin polymerization, which causes red blood cells (RBCs) to become distorted into a sickle shape. The sickled, adherent RBCs are at the basis of a series of downstream complications such as vaso-occlusion (VOC) associated with pain attacks, acute chest syndrome, and anemia. Hematopoietic stem cell transplantation is the only cure for SCD, but its use is limited to a small portion of patients. Prophylactic penicillin to prevent commonly occurring infections, analgesics for pain episodes, hydroxyurea to increase the expression of an alternative form of hemoglobin, and blood transfusions are the cornerstones of SCD management. These therapeutic options help control acute and chronic complications associated with SCD and improve patients’ quality of life, but the use of hydroxyurea and blood transfusions in particular can be burdensome. Hydroxyurea actually is a therapy targeting the underlying cause of SCD, but it is associated with safety concerns and frequent blood count monitoring. Chronic transfusion requires periodic evaluations of iron overload, liver function, serum ferritin, and hepatitis B and C and HIV infection. The unmet needs are high for therapies that can reduce the duration of VOC and therapies that target the underlying cause of the disease. ​

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