An Integrated Gene Therapy Strategy for γ-Globin Addition and HbF Reactivation in β-Thalassemia

Background: β-Thalassemia and other β-hemoglobinopathies arise from defective β-globin production, and reactivating fetal hemoglobin (HbF) is a well-established strategy to ameliorate disease severity. Two principal gene-therapy approaches—erythroid-specific γ-globin gene addition and shRNA/shmiRNA-mediated knockdown of the γ-globin repressor BCL11A—have each shown clinical promise, but their combination within a single vector remains largely unexplored. Methods: Here we developed and compared three compact, C1-insulated lentiviral vectors driven by the micro-locus control region (μLCR): a BCL11A-targeting shmiRNA vector, a γ-globin cDNA vector, and a dual construct combining both elements. Results: All vectors were produced at high titers, and incorporating both cassettes into a single construct did not compromise vector production or cell viability. In CD34+ hematopoietic stem and progenitor cells from healthy donors and β-thalassemia patients, transduction did not impair proliferation, erythroid differentiation, or progenitor colony formation. All three vectors significantly increased the proportion of HbF-expressing cells, with the combined shmiRNA + γ-globin cDNA vector achieving the highest induction, reaching approximately 25% HbF-positive cells in the enucleated erythroid population of thalassemic cells versus approximately 10% in untransduced controls. Notably, all constructs significantly reduced reactive oxygen species levels, indicating alleviation of oxidative stress. Conclusions: Together, these findings support the feasibility and therapeutic potential of combining complementary HbF-inducing mechanisms within a single lentiviral vector for β-thalassemia.

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Journal
Thalassemia Reports
Published
2026-09-01
DOI
https://doi.org/10.3390/thalassrep16030019
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
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article

An Integrated Gene Therapy Strategy for γ-Globin Addition and HbF Reactivation in β-Thalassemia

Αναστασία Παπαδοπούλου, Pavel Sova, Nikoletta Psatha, Fotios Papadopoulos et al.
Thalassemia Reports
Hemoglobinopathies and Related Disorders
article

An Integrated Gene Therapy Strategy for γ-Globin Addition and HbF Reactivation in β-Thalassemia

Αναστασία Παπαδοπούλου, Pavel Sova, Nikoletta Psatha, Fotios Papadopoulos, Kiriaki Paschoudi, Evangelia Yannaki, Ninos-Ioannis Vasiloudis, Xenia Nikolaou
article en

Abstract

Background: β-Thalassemia and other β-hemoglobinopathies arise from defective β-globin production, and reactivating fetal hemoglobin (HbF) is a well-established strategy to ameliorate disease severity. Two principal gene-therapy approaches—erythroid-specific γ-globin gene addition and shRNA/shmiRNA-mediated knockdown of the γ-globin repressor BCL11A—have each shown clinical promise, but their combination within a single vector remains largely unexplored. Methods: Here we developed and compared three compact, C1-insulated lentiviral vectors driven by the micro-locus control region (μLCR): a BCL11A-targeting shmiRNA vector, a γ-globin cDNA vector, and a dual construct combining both elements. Results: All vectors were produced at high titers, and incorporating both cassettes into a single construct did not compromise vector production or cell viability. In CD34+ hematopoietic stem and progenitor cells from healthy donors and β-thalassemia patients, transduction did not impair proliferation, erythroid differentiation, or progenitor colony formation. All three vectors significantly increased the proportion of HbF-expressing cells, with the combined shmiRNA + γ-globin cDNA vector achieving the highest induction, reaching approximately 25% HbF-positive cells in the enucleated erythroid population of thalassemic cells versus approximately 10% in untransduced controls. Notably, all constructs significantly reduced reactive oxygen species levels, indicating alleviation of oxidative stress. Conclusions: Together, these findings support the feasibility and therapeutic potential of combining complementary HbF-inducing mechanisms within a single lentiviral vector for β-thalassemia.

Thalassemia ReportsVol. 16(3)
University of Washington (US), Aristotle University of Thessaloniki (GR), Altius Institute for Biomedical Sciences (US), G. Papanikolaou General Hospital (GR)
Hellenic Foundation for Research and Innovation
Openalex Percentile: Top 11%
Hemoglobinopathies and Related Disorders
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