Is a universal cure for sickle cell disease imminent?

      Sickle cell disease (SCD) is a beta hemoglobinopathy that occurs in approximately 100,000 Americans and affects 1 in 365 African-American and 1 in 16,300 Hispanic-American births [

      Sickle Cell Disease (SCD). Center for Disease Control and Prevention.

      ]. It is characterized by the presence of hemoglobin S (HbS) which contains a single base substitution (A-T) in the β-globin gene that leads to a single amino acid change. HbS polymerizes under deoxygenated conditions causing the red blood cell (RBC) to assume a sickle shape. These rigid sickle RBCs cause a number of adverse events including vaso-occlusion, intravascular hemolysis, endothelial injury, end-organ damage, and anemia [
      • Tanhehco Y.C.
      Gene therapy for hemoglobinopathies.
      • Tanhehco Y.C.
      • Bhatia M.
      Hematopoietic stem cell transplantation and cellular therapy in sickle cell disease: where are we now?.
      ]. Despite the simplicity of its genetic etiology, the clinical manifestations of SCD are highly heterogeneous and complex. Studies continue to be performed to better understand the pathophysiology of SCD to not only help target drug development but also to develop diagnostic assays that would enable early detection of the disease, predict the occurrence of adverse events, and to monitor the effectiveness of therapies. To date, there are a number of treatment options available for managing patients with SCD but not all are readily accessible and some may be associated with significant morbidity and mortality which decrease their appeal. This issue of Transfusion and Apheresis Science focuses on the advancements in treatment options for SCD and laboratory testing methodologies for monitoring the efficacy of the different treatment strategies.
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