What is the role of gene therapy in the treatment of beta thalassemia?

Updated: May 07, 2021
  • Author: Pooja Advani, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Since the first successful gene therapy for thalassemia major, in 2007, researchers have worked to improve the efficacy and safety of the procedure. [14, 18, 19] In this process, autologous hematopoietic stem cells (HSCs) are harvested from the patient and then genetically modified with a lentiviral vector expressing a normal globin gene. After the patient has undergone appropriate conditioning therapy to destroy existing HSCs, the modified HSCTs are reinfused into the patient. Clinical trials of gene therapy for thalassemia are currently recruiting participants. [20, 21]

A newer approach employs genome editing techniques, such as zinc finger nucleases (ZFN), transcription activator–like effectors with Fokl nuclease (TALEN), or the clustered regularly interspaced short palindromic repeats (CRISPR) with Cas9 nuclease system. These can specifically target single-mutation sites and replace them with the normal sequence, restoring the wild-type functional configuration of the gene. Producing a sufficiently large number of corrected genes is the major challenge with this approach. [14]

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