faculty

Publications

Home / Publications / Enhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for β-hemoglobinopathies

Enhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for β-hemoglobinopathies

Groups and Associations Prathibha Babu Chandraprabha # 1 2, Manoj Kumar K Azhagiri # 1 2, Vigneshwaran Venkatesan 1 2, Wendy Magis 3, Kirti Prasad 1 2, Sevanthy Suresh 1 2, Aswin Anand Pai 4, Srujan Marepally 1, Alok Srivastava 1 4, Kumarasamypet Murugesan Mohankumar 1, David I K Martin 3, Saravanabhavan Thangavel 5
Stem Cell Res Ther 2024

Background: Sickle cell disease (SCD) and β-thalassemia patients with elevated gamma globin (HBG1/G2) levels exhibit mild or no symptoms. To recapitulate this natural phenomenon, the most coveted gene therapy approach is to edit the regulatory sequences of HBG1/G2 to reactivate them. By editing more than one regulatory sequence in the HBG promoter, the production of fetal hemoglobin (HbF) can be significantly increased. However, achieving this goal requires precise nucleotide conversions in hematopoietic stem and progenitor cells (HSPCs) at therapeutic efficiency, which remains a challenge.