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.
Authors
- Αναστασία Παπαδοπούλου (ORCID: https://orcid.org/0000-0001-5385-8738)
- Pavel Sova
- Nikoletta Psatha (ORCID: https://orcid.org/0000-0002-3139-057X)
- Fotios Papadopoulos
- Kiriaki Paschoudi (ORCID: https://orcid.org/0009-0000-2378-1442)
- Evangelia Yannaki (ORCID: https://orcid.org/0000-0002-9849-1279)
- Ninos-Ioannis Vasiloudis (ORCID: https://orcid.org/0009-0009-7941-8541)
- Xenia Nikolaou (ORCID: https://orcid.org/0009-0007-6160-4800)
Institutions
- University of Washington (US)
- Aristotle University of Thessaloniki (GR)
- Altius Institute for Biomedical Sciences (US)
- G. Papanikolaou General Hospital (GR)
Publication Details
- Journal
- Thalassemia Reports
- Published
- 2026-09-01
- DOI
- https://doi.org/10.3390/thalassrep16030019
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Hellenic Foundation for Research and Innovation