Revisiting Gene Therapy Approaches for Beta-Thalassemia
Ayşenur Saygılı1, Oytun Erbaş1
1ERBAS Institute of Experimental Medicine, Illinois, USA & Gebze, Türkiye
Keywords: Anemia, CRISPR/Cas9, gene therapy, iPSCs, mutations, thalassemia
Beta-thalassemia (β-thalassemia) is known as a blood disease that occurs as a result of a defect in the synthesis of the beta-globin (β-globin) chains of the hemoglobin (Hb) molecule. The term thalassemia is derived from a combination of the Greek words "thalassa" (sea) and "haima" (blood). It is a genetic disease and follows autosomal recessive inheritance. One of the rare diseases known as a blood disorder, the Hb molecule is a mutation in the synthesis of β-globin chains. There are three types of β-thalassemia; β-thalassemia major, β-thalassemia minor, and β-thalassemia intermedia. There are hundreds of defined mutations in the Hb beta (HBB) gene. The next generation of treatment on the change of these mutations has led to studies in gene editing. Clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) technology was first introduced in 2012, causing a paradigm shift in the field of genome editing. Engineered and programmable bacterial nucleases enabled genome sequences to be edited. It can target genes in a given deoxyribonucleic acid region and make desired changes. Recent advances in genome sequencing methods and studies in the HBB gene have provided significant clinical benefits in its treatment, supporting new achievements in understanding molecular mechanisms and advances in gene editing technology. This review addresses the various aspects of β-thalassemia, including its genetic basis, classification, and the significance of mutations within the HBB gene. Furthermore, it highlights the transformative impact of CRISPR/Cas9 technology in advancing our understanding of molecular mechanisms and ushering in a new era of gene editing possibilities.
Cite this article as: Saygılı A, Erbaş O. Revisiting Gene Therapy Approaches for Beta-Thalassemia. JEB Med Sci 2023;4(2):104-109.
The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.
The authors received no financial support for the research and/or authorship of this article.