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@article{187658,
        author = {Atharva Manish Tiwari and Preeti More and Dr. Sachidanand Angadi},
        title = {Treatment with curative intent: the emergence of genetic therapies for sickle cell anemia},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {12},
        number = {6},
        pages = {6544-6553},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=187658},
        abstract = {A s imple point mutation (Glu6Val) in the beta-globin gene (HBB) brings about sickle cell disease (SCD), a genetic disorder of hemoglobin that has a predominant form of abnormal hemoglobin S (HbS). In places where oxygen is less, HbS turns into a solid mass, with red blood cells acquiring the typical sickle shape in the process. This leads to a series of events such as chronic hemolytic anemia, and damage to multiple organs due to lack of blood supply, vaso-occlusion episodes, and shortened life span. In addition to the long-term disadvantages like the insufficient efficacy of drugs, transfusion problems, and the limited availability of drugs in resource poor settings, standard medical care (hydroxyurea, chronic transfusions, supportive care) reduces morbidity but does not eliminate the genetic defect. The curative gene therapy techniques for sickle cell disease (SCD) have focused on two dominant pathways: the first one is gene addition, in which lentiviral vectors (Lenti Globin) are employed to transfer a functional beta-globin transgene to the patient's autologous hematopoietic stem and progenitor cells (HSPCs) outside the body and the second approach is gene editing which means accurately altering the patient's HSPCs to either fix the sickle mutation or increase fetal hemoglobin (HbF) by turning off the repressors (e.g., editing BCL11A or HBG promoters of the erythroid enhancer). The initial and ongoing clinical trials have indicated that one ex vivo autologous HSPC infusion can lead to considerable HbF induction or permanent therapeutic hemoglobin being expressed and, moreover, it can greatly reduce vaso-occlusive crises. Newer methods such as prime editing and non-viral editing techniques are precise correction once the safety and manufacturability have been possibly improved, whereas CRISPR/Cas9-based editing of HSPCs to upregulate HbF (CTX001/Casgevy and related programs are examples) and lentiviral beta-globin gene addition have shown high treatment response rates with prolonged clinical benefit in most of the treated patients.},
        keywords = {},
        month = {November},
        }