What is the focus of gene therapy research for the treatment of beta thalassemia?

Updated: May 07, 2021
  • Author: Pooja Advani, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Gene therapy for beta thalassemia is being pursued by several research groups. In one case report, an adult patient with severe, transfusion-dependent beta thalassemia became transfusion independent for 21 months, 33 months after lentiviral beta-globin gene transfer, with peripheral blood hemoglobin being maintained at 9-10 g/dL. [30]

Obstacles to gene therapy include an inability to express high levels of the beta-globin gene in erythroid cells and an inability to transduce hematopoietic pluripotent stem cells at high efficiency. Additionally, the quest for a safe and specific target gene–delivering vector has been challenging.

A phase I clinical trial using autologous CD34+ hematopoietic progenitor cells transduced with a lentiviral vector encoding the normal human beta-globin gene for treatment of beta thalassemia major is currently under way (NCT01639690).

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