A combined approach for β-thalassemia based on gene therapy-mediated adult hemoglobin (HbA) production and fetal hemoglobin (HbF) induction

Ann Hematol. 2012 Aug;91(8):1201-13. doi: 10.1007/s00277-012-1430-5. Epub 2012 Mar 31.

Abstract

Gene therapy might fall short in achieving a complete reversion of the β-thalassemic phenotype due to current limitations in vector design and myeloablative regimen. Following gene transfer, all or a large proportion of erythroid cells might express suboptimal levels of β-globin, impairing the therapeutic potential of the treatment. Our aim was to evaluate whether, in absence of complete reversion of the β-globin phenotype upon gene transfer, it is possible to use fetal hemoglobin induction to eliminate the residual α-globin aggregates and achieve normal levels of hemoglobin. Transgenic K562 cell lines and erythroid precursor cells from β(0)39-thalassemia patients were employed. Gene therapy was performed with the lentiviral vector T9W. Induction of fetal hemoglobin was obtained using mithramycin. Levels of mRNA and hemoglobins were determined by qRT-PCR and HPLC. First, we analyzed the effect of mithramycin on K562 transgenic cell lines harboring different copies of a lentiviral vector carrying the human β-globin gene, showing that γ-globin mRNA expression and HbF production can be induced in the presence of high levels of β-globin gene expression and HbA accumulation. We then treated erythroid progenitor cells from β-thalassemic patients with T9W, which expresses the human β-globin gene and mithramycin separately or in combination. When transduction with our lentiviral vector is insufficient to completely eliminate the unpaired α-globin chains, combination of β-globin gene transfer therapy together with fetal hemoglobin induction might be very efficacious to remove the excess of α-globin proteins in thalassemic erythroid progenitor cells.

Publication types

  • Evaluation Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antibiotics, Antineoplastic / pharmacology
  • Antibiotics, Antineoplastic / therapeutic use
  • Cells, Cultured
  • Combined Modality Therapy / methods
  • Erythroid Precursor Cells / drug effects*
  • Erythroid Precursor Cells / metabolism
  • Erythroid Precursor Cells / physiology
  • Fetal Hemoglobin / metabolism*
  • Gene Transfer Techniques
  • Genetic Therapy* / methods
  • HEK293 Cells
  • Hemoglobin A / genetics*
  • Hemoglobin A / metabolism
  • Humans
  • K562 Cells
  • Plicamycin / pharmacology
  • Plicamycin / therapeutic use*
  • beta-Globins / genetics
  • beta-Thalassemia / genetics
  • beta-Thalassemia / metabolism
  • beta-Thalassemia / therapy*

Substances

  • Antibiotics, Antineoplastic
  • beta-Globins
  • Hemoglobin A
  • Fetal Hemoglobin
  • Plicamycin