Sickle cell disease has been called the “first molecular disease”. However treatment advances have been few and far between. The only cure is a stem cell transplant and that option is only available for people with HLA-matched donors in developed nations. Gene therapy has long been proposed as a treatment. But difficulties with globin gene expression and gene transfer into stem cells have slowed development. Success with a mouse model has not yet translated into human clinical trials (Pawliuk et al. 2001).
What causes red blood cells to sickle?