Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin

Nature. 2000 Jul 6;406(6791):82-6. doi: 10.1038/35017565.

Abstract

The stable introduction of a functional beta-globin gene in haematopoietic stem cells could be a powerful approach to treat beta-thalassaemia and sickle-cell disease. Genetic approaches aiming to increase normal beta-globin expression in the progeny of autologous haematopoietic stem cells might circumvent the limitations and risks of allogeneic cell transplants. However, low-level expression, position effects and transcriptional silencing hampered the effectiveness of viral transduction of the human beta-globin gene when it was linked to minimal regulatory sequences. Here we show that the use of recombinant lentiviruses enables efficient transfer and faithful integration of the human beta-globin gene together with large segments of its locus control region. In long-term recipients of unselected transduced bone marrow cells, tetramers of two murine alpha-globin and two human betaA-globin molecules account for up to 13% of total haemoglobin in mature red cells of normal mice. In beta-thalassaemic heterozygous mice higher percentages are obtained (17% to 24%), which are sufficient to ameliorate anaemia and red cell morphology. Such levels should be of therapeutic benefit in patients with severe defects in haemoglobin production.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Bone Marrow Transplantation
  • Cell Line
  • Female
  • Gene Transfer Techniques
  • Genetic Therapy*
  • Genetic Vectors
  • Globins / biosynthesis
  • Globins / genetics*
  • HIV-1 / genetics
  • Hemoglobins / biosynthesis*
  • Humans
  • Lentivirus / genetics*
  • Male
  • Mice
  • Recombinant Proteins / genetics
  • Recombinant Proteins / pharmacology
  • Transduction, Genetic
  • beta-Thalassemia / metabolism
  • beta-Thalassemia / therapy*

Substances

  • Hemoglobins
  • Recombinant Proteins
  • Globins