Gene therapy for sickle cell disease

Sickle cell disease (SCD) is caused by the homozygous inheritance of a single point mutation in the β globin gene (hemoglobin S) that manifests itself as an anemia with characteristic sickle-shaped red blood cells. Currently available treatments are only symptomatic, but in December 14 Science, Robert Pawliuk and colleagues from Massachusetts Institute of Technology, Cambridge, US show evidence that it is possible to correct sickle cell disease in transgenic mouse models using gene therapy.

Pawliuk et al. designed an antisickling β^A globin gene variant that was introduced with a lentiviral vector into murine hematopoietic stem cells. They observed long-term expression (up to 10 months) in all transplanted mice with erythroid-specific accumulation of the antisickling protein and correction of hematological parameters in two mouse SCD models that were tested (Berkeley and SAD) (Science 2001, 294:2368-2371).

"Before gene therapy of SCD may be proposed for human patients […] achieving large-scale lentiviral production ...