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Novel therapies in β- thalassemia
  • Laura Grech,
  • Karen Borg,
  • Joseph Borg
Laura Grech
University of Malta Faculty of Medicine and Surgery
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Karen Borg
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Joseph Borg
University of Malta Faculty of Health Sciences
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Abstract

Beta-thalassaemia is one of the most significant haemoglobinopathies worldwide resulting in the synthesis of little or no β-globin chains. Without treatment, β-thalassaemia major is lethal within the first decade of life due to the complex pathophysiology which leads to wide clinical manifestations. Current clinical management for these patients solely relies on repeated transfusions followed by iron chelating therapy which can eventually results into multi-organ damage. A number of novel approaches to correct the resulting α/β globin chain imbalance are currently being developed. These include reactivation of foetal haemoglobin by pharmacological compounds, allogenic hematopoietic stem cell transplantation (HSCT) and gene therapy. Up to now, the only curative treatment for beta-thalassemia is HSCT, but this is a risky and costly procedure. Gene therapy either by gene addition or gene editing is emerging as a powerful approach to treat this disease. Gene addition is currently based on transplantation of autologous hematopoietic stem cells genetically modified with an integrating lentiviral vector expression the globin gene while gene editing involves the use of CRISPR/Cas9 to correct the causative mutation. Although the early outcomes of the clinical trials in gene therapy are showing promising results, they have also highlighted a number of limitations. In this review we will discuss about the current management strategies used to treat beta-thalassaemia and also focus on novel therapies.

Peer review status:UNDER REVIEW

14 Jul 2020Submitted to British Journal of Clinical Pharmacology
16 Jul 2020Assigned to Editor
16 Jul 2020Submission Checks Completed
20 Jul 2020Reviewer(s) Assigned