Scientists have discovered a novel potential gene therapy for sickle cell disease.
Sickle cell disease (SCD) is an autosomal recessive disorder caused by mutations in hemoglobin (HBB) that deform red blood cells. A small number of patients have been successfully treated with allogeneic hematopoietic stem cell (HSC) transplantation; however, there are several drawbacks and complications associated with this procedure, including graft vs. host disease and long-term immune suppression. Many of complications could potentially be avoided by the use of autologous HSC transplant, which uses patient cells that have been treated genetically modified to replace defective hemoglobin.
In this issue of the Journal of Clinical Investigation
, Zulema Romero and colleagues investigated the utility of a genetic vector encoding a human hemoglobin gene engineered to impede sickle hemoglobin and prevent the sickling of red blood cells. The vector was used to efficiently transduce bone marrow cells from SCD patients and the transduced cells were successfully transplanted into immunocompromised mice, suggesting that this method could potentially be used to treat SCD.