New insight into red blood cell machinery offers clues to treating sickle cell disease

Hematologists at St. Jude Children's Research Hospital have discovered key molecular details of how genetic variants in blood-forming machinery enable some people to retain the ability to generate red blood cells with a form of hemoglobin that is normally expressed only before birth. Persistence of fetal hemoglobin expression after birth can protect patients from the deleterious effects of mutations that cause beta thalassemia and sickle cell disease. The findings are already aiding development of gene therapies. The work was published online today in Nature Genetics.