Therapeutic Gene Editing for Hemoglobinopathies

Mediterr J Hematol Infect Dis. 2024 Sep 1;16(1):e2024068. doi: 10.4084/MJHID.2024.068. eCollection 2024.

Abstract

In the last ten years, a consistent number of clinical studies have evaluated different gene approaches for the treatment of patients with sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT). Initial studies of gene therapy for hemoglobinopathies involved the use of lentiviral vectors to add functional copies of the gene encoding β-globin in defective CD34 cells; more recently, gene editing techniques have been used involving either CRISPR-Cas9, transcription activation-like effector protein nuclease, zinc finger nuclease, and base editing to either induce fetal hemoglobin production at therapeutic levels or to genetically repair the underlying molecular defect causing the disease. Here, we review recent gene editing studies that have started the development of a new era in the treatment of hemoglobinopathies and, in general, monoallelic hereditary diseases.

Keywords: Gene editing; Hemoglobinopathies; Sickle Cell Anemia; Thalassemia; gene therapy.

Publication types

  • Review