Cao, A. & Galanello, R. Beta-thalassemia. Genet. Med. 12, 61–76 (2010).
Google Scholar
Pasricha, S. R. & Drakesmith, H. Hemoglobinopathies in the fetal position. N. Engl. J. Med. 379, 1675–1677 (2018).
Google Scholar
Shah, F. T., Sayani, F., Trompeter, S., Drasar, E. & Piga, A. Challenges of blood transfusions in β-thalassemia. Blood Rev. 37, 100588 (2019).
Google Scholar
Cappellini, M. D. et al. A phase 3 trial of luspatercept in patients with transfusion-dependent β-thalassemia. N. Engl. J. Med. 382, 1219–1231 (2020).
Google Scholar
Niihara, Y. et al. A phase 3 trial of ʟ-glutamine in sickle cell disease. N. Engl. J. Med. 379, 226–235 (2018).
Google Scholar
Vichinsky, E. et al. A phase 3 randomized trial of voxelotor in sickle cell disease. N. Engl. J. Med. 381, 509–519 (2019).
Google Scholar
Ataga, K. I. et al. Crizanlizumab for the prevention of pain crises in sickle cell disease. N. Engl. J. Med. 376, 429–439 (2017).
Google Scholar
Bolanos-Meade, J. et al. HLA-haploidentical bone marrow transplantation with posttransplant cyclophosphamide expands the donor pool for patients with sickle cell disease. Blood 120, 4285–4291 (2012).
Google Scholar
Magrin, E., Miccio, A. & Cavazzana, M. Lentiviral and genome-editing strategies for the treatment of β-hemoglobinopathies. Blood 134, 1203–1213 (2019).
Google Scholar
Imren, S. et al. Permanent and panerythroid correction of murine β thalassemia by multiple lentiviral integration in hematopoietic stem cells. Proc. Natl Acad. Sci. USA 99, 14380–14385 (2002).
Google Scholar
Pawliuk, R. et al. Correction of sickle cell disease in transgenic mouse models by gene therapy. Science 294, 2368–2371 (2001).
Imren, S. et al. High-level β-globin expression and preferred intragenic integration after lentiviral transduction of human cord blood stem cells. J. Clin. Invest. 114, 953–962 (2004).
Google Scholar
Ronen, K. et al. Distribution of lentiviral vector integration sites in mice following therapeutic gene transfer to treat β-thalassemia. Mol. Ther. 19, 1273–1286 (2011).
Google Scholar
Negre, O. et al. Preclinical evaluation of efficacy and safety of an improved lentiviral vector for the treatment of β-thalassemia and sickle cell disease. Curr. Gene Ther. 15, 64–81 (2015).
Google Scholar
Takekoshi, K. J., Oh, Y. H., Westerman, K. W., London, I. M. & Leboulch, P. Retroviral transfer of a human beta-globin/delta-globin hybrid gene linked to beta locus control region hypersensitive site 2 aimed at the gene therapy of sickle cell disease. Proc. Natl Acad. Sci. USA 92, 3014–3018 (1995).
Google Scholar
Srinivasulu, S. et al. Pair-wise interactions of polymerization inhibitory contact site mutations of hemoglobin-S. Protein J. 25, 503–516 (2006).
Google Scholar
Cavazzana-Calvo, M. et al. Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature 467, 318–322 (2010).
Google Scholar
Thompson, A. A. et al. Gene therapy in patients with transfusion-dependent β-thalassemia. N. Engl. J. Med. 378, 1479–1493 (2018).
Google Scholar
Ribeil, J. A. et al. Gene therapy in a patient with sickle cell disease. N. Engl. J. Med. 376, 848–855 (2017).
Google Scholar
Nagel, R. L. et al. Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N. Engl. J. Med. 312, 880–884 (1985).
Google Scholar
Shannon, C. E. A mathematical theory of communication. Bell Syst. Tech. J. 27, 379–423 (1948). 623–656.
Google Scholar
Chao, A. Nonparametric estimation of the number of classes in a population. Scand. J. Stat. 11, 265–270 (1984).
Hebert, N. et al. Individual red blood cell fetal hemoglobin quantification allows to determine protective thresholds in sickle cell disease. Am. J. Hematol. 95, 1235–1245 (2020).
Google Scholar
Eaton, W. A., Hofrichter, J. & Ross, P. D. Editorial: Delay time of gelation: a possible determinant of clinical severity in sickle cell disease. Blood 47, 621–627 (1976).
Google Scholar
Imren, S. et al. Permanent and panerythroid correction of murine beta thalassemia by multiple lentiviral integration in hematopoietic stem cells. Proc. Natl Acad. Sci. USA 99, 14380–14385 (2002).
Google Scholar
Henry, E. R. et al. Allosteric control of hemoglobin S fiber formation by oxygen and its relation to the pathophysiology of sickle cell disease. Proc. Natl Acad. Sci. USA 117, 15018–15027 (2020).
Google Scholar
Ilboudo, Y. et al. A common functional PIEZO1 deletion allele associates with red blood cell density in sickle cell disease patients. Am. J. Hematol. 93, E362–E365 (2018).
Google Scholar
Philippidis, A. After analysis, Bluebird Bio says vector ‘very unlikely’ cause of acute myeloid leukemia. Hum. Gene Ther. 32, 332–334 (2021).
Google Scholar
https://investor.bluebirdbio.com/news-releases/news-release-details/bluebird-bio-announces-lifting-fda-clinical-hold-sickle-cell (2021).
Tisdale, J. F. et al. Updated results from HGB-206 LentiGlobin for Sickle Cell Disease Gene Therapy Study: Group C data and Group A AML case investigation. Abstract 196. American Society of Gene & Cell Therapy Annual Meeting (2021).
Seminog, O. O., Ogunlaja, O. I., Yeates, D. & Goldacre, M. J. Risk of individual malignant neoplasms in patients with sickle cell disease: English national record linkage study. J. R. Soc. Med. 109, 303–309 (2016).
Google Scholar
Brunson, A. et al. Increased risk of leukemia among sickle cell disease patients in California. Blood 130, 1597–1599 (2017).
Google Scholar
Jones, R. J. & DeBaun, M. R. Leukemia after gene therapy for sickle cell disease: insertional mutagenesis, busulfan, both, or neither. Blood 138, 942–947 (2021).
Google Scholar
Shimoni, A. et al. Secondary malignancies after allogeneic stem-cell transplantation in the era of reduced-intensity conditioning; the incidence is not reduced. Leukemia 27, 829–835 (2013).
Google Scholar
Thompson, A. A. et al. Resolution of serious vaso-occlusive pain crises and reduction in patient-reported pain intensity: results from the ongoing phase 1/2 HGB-206 group C study of lentiglobin for sickle cell disease (bb1111) gene therapy. https://ash.confex.com/ash/2020/webprogram/Paper134940.html (2020).
Brusson, M. et al. Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies. https://ash.confex.com/ash/2021/webprogram/Paper151076.html (2021).
Thompson, A. A. et al. Favorable outcomes in pediatric patients in the phase 3 Hgb-207 (Northstar-2) and Hgb-212 (Northstar-3) studies of betibeglogene autotemcel gene therapy for the treatment of transfusion-dependent β-thalassemia. Blood 136, 52–54 (2020).
Google Scholar
Nualkaew, T. et al. Coordinated β-globin expression and α2-globin reduction in a multiplex lentiviral gene therapy vector for β-thalassemia. Mol. Ther. 29, 2841–2853 (2021).
