Hemoglobinopathies

The transcription factor BCL11A represses gamma-globin expression and fetal hemoglobin in red blood cells. This brief report describes an international multicenter study by investigators from the US, UK, Europe, and Canada, in which electroporation of CD34+ hematopoietic stem and progenitor cells obtained from healthy donors was performed, using CRISPR-Cas9 to target the BCL11A erythroid-specific enhancer. The authors report that more than 1 year later, “both patients had high levels of allelic editing in bone marrow and blood, increases in fetal hemoglobin that were distributed pancellularly, transfusion independence, and (in the patient with SCD) elimination of vaso-occlusive episodes.”