Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of ß-hemoglobinopathies

We have identified putative repressor region (PRR) to exon-1 of ß-globin (ßE1) in the ß-globin cluster as a core region in alll the HPFH deletions that activates fetal hemoglobin and silences adult hemoglobin. Here we charactised the transcriptome of the erythroblasts derived from PRR-ßE1 gene edited HSPCs. Transcriptome analysis showed an increased expression of HBG, HBBP1 and decreased expression of HBB transcripts compared to control. Overall design: RNA-seq