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Gene Therapies for Transfusion-Dependent β-Thalassemia

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Abstract

β-Thalassemia is one of the most prevalent monogenic diseases usually caused by quantitative defects in the production of β-globin, a component of adult hemoglobin (α2β2), leading to severe anemia. Technological advances in genome sequencing, stem cell selection, viral vector development, transduction and gene-editing strategies now allow for efficient ex-vivo genetic manipulation of human hematopoietic stem cells that can lead to a meaningful clinical benefit in thalassemia patients. In this perspective, the status of the gene-therapy approaches available for transfusion-dependent thalassemia and early results of clinical trials are discussed. It is highly anticipated that gene therapies will soon become a treatment option for patients lacking compatible donors for hematopoietic stem cell transplant and will offer a suitable alternative for definitive treatment of β-thalassemia, even in young children.

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Authors and Affiliations

  1. Division of Pediatric Bone Marrow Transplant, Department of Pediatrics, University of California, San Francisco, CA, USA

    Sandeep Soni

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  1. Sandeep Soni
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Correspondence to Sandeep Soni.

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Supplementary material related to this study is available with the online version at www.indianpediatrics.net

Competing interests

The author is also employed by Crispr Therapeutics Inc. that sponsors the CTX001 thalassemia trial. Only publicly available information has been provided and the manuscript was not influenced in any way by this relationship. Part of the text in this manuscript was adapted for pediatrics audience from previously submitted reviews to other journals by the author.

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Soni, S. Gene Therapies for Transfusion-Dependent β-Thalassemia. Indian Pediatr 58, 667–674 (2021). https://doi.org/10.1007/s13312-021-2263-x

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