Advances in gene therapy for the treatment of sickle cell anemia
DOI:
https://doi.org/10.18203/2320-6012.ijrms20242691Keywords:
Sickle cell anaemia, Gene therapy, Hemoglobin F, CRISPR-Cas9-gRNA-68, CD34 hematologyAbstract
Currently, sickle cell anemia is a β-hemoglobinopathy, meaning a genetic autosomal recessive disease, affecting 400,000 newborns worldwide. Approximately 5% of the global population are carriers of genes causing this pathology. Regarding treatment, there are medical and pharmacological therapies for the disease; however, the only known curative option is allogeneic hematopoietic stem cell transplantation. Nonetheless, there is a high rejection rate, compounded by the fact that it is only available to a limited number of patients. Now, there is a new alternative: gene therapy, which is based on the addition and modification of genes.
Metrics
References
Sharma A, Boelens JJ, Cancio M, Hankins JS, Bhad P, Azizy M, et al. CRISPR-Cas9 editing of the HBG1 and HBG2 promoters to treat sickle cell disease. New England J Med. 2023;389(9):820-32.
Esrick EB, Lehmann LE, Biffi A, Achebe M, Brendel C, et al. Post-transcriptional genetic silencing of BCL11A to treat sickle cell disease. New England J Med. 384;3:205-15.
Díaz MM, Márquez BY, Martínez LJ, Briceño BI, Benavides BE, Bernal JE, et al. Sickle cell anaemia: a review on the genotype of the disease, haplotypes, diagnosis, and associated studies. Revista Médica de Chile. 2021;149(9):1322-9.
Silva GE. Advances in gene therapy in humans: some basic concepts and a historical overview. Revista Médica Clínica Las Condes. 2022;33(2):109-18.
Abraham AA, Tisdale JF. Gene therapy for sickle cell disease: moving from the bench to the bedside. Blood. 2021;138(11):932-41.
Garcia NP, Júnior ALS, Soares GAS, Costa TCC, Santos APCD, Costa AG, et al. Sickle cell anaemia patients display an intricate cellular and serum biomarker network highlighted by TCD4+CD69+ Lymphocytes, IL-17/MIP-1β, IL-12/VEGF, and IL-10/IP-10 Axis. J Immunol Res. 2020;1-22.
Badawy SM, Beg U, Liem RI, Chaudhury S, Thompson AA. A systematic review of quality of life in sickle cell disease and thalassemia after stem cell transplant or gene therapy. Blood Advances. 2022;5(2):570-83.
Anurogo D, Budi YP, Ngo NT, Huang MH, Pawitan JA. Cell and gene therapy for anemia: hematopoietic stem cells and gene editing. Int J Molec Sci. 2021;22:62-75.
Demirci S, Leonard A, Essawi K, Tisdale JF. CRISPR-Cas9 to induce fetal haemoglobin for the treatment of sickle cell disease. Mole Ther Methods and Clin Develop. 2021;23:276-85.
Kanter J, Walters MC, Krishnamurti L, Mapara MY, Kwiatkowski JL, Rifkin ZS, et al. Biologic and clinical efficacy of lenti globin for sickle cell disease. The New England J Med. 2022;386(7):17-628.
Locatelli F, Thompson AA, Kwiatkowski JL, Porter JB, Thrasher AJ, Hongeng S, et al. Betibeglogene Autotemcel Gene Therapy for Non–β0/β0 Genotype β-Thalassemia. The New England J Med. 2022;386(5):415-27.
Segura EER, Ayoub PG, Hart KL, Kohn DB. Gene therapy for β-hemoglobinopathies: from discovery to clinical trials. Viruses. 2023;15(3):713.
Hardouin G, Magrin E, Corsia A, Cavazzana M, Miccio A, Semeraro M. Sickle cell disease: from genetics to curative approaches. Annual Review of Genomics and Human Genetics. 2023;24(1):255-75.
Bhoopalan SV, Suryaprakash S, Sharma A, Wlodarski MW. Hematopoietic cell transplantation and gene therapy for Diamond-Blackfan anemia: state of the art and science. Front Oncol. 2023;13:1236-8.
Ferraresi M, Panzieri DL, Leoni S, Cappellini MD, Kattamis A, Motta I. Therapeutic perspective for children and young adults living with thalassemia and sickle cell disease. Eur J Pediat. 2023;431:23-49.
Silva GE. Advances in gene therapy in humans: some basic concepts and a historical overview. Revista Médica Clínica Las Condes. 2022;33(2):109-18.
Anderson LM, Collins JJ. Recent advances in gene therapy for hematologic disorders. Blood Reviews. 2023;42:100850.
Martinez P, Rodriguez H. The role of viral vectors in the success of gene therapy for sickle cell anemia. J Hematol Oncol. 2022;15(1):15.
Nguyen VH, Lee TK. Long-term outcomes of gene therapy in patients with sickle cell disease. J Clin Inv. 2021;131:15.
Patel AR, Zhao Q. Emerging technologies in the treatment of hemoglobinopathies: a review of clinical trials. Molecular Therapy. 2020;28(11):2523-32.
Smith DJ, Johnson SM. Advances in CRISPR-Cas9 technology and its application in sickle cell disease. Nature Genetics. 2020;52(12):1177-84.
Downloads
Published
How to Cite
Issue
Section
