A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer

Blood. 2003 Apr 15;101(8):2932-9. doi: 10.1182/blood-2002-10-3305. Epub 2002 Dec 12.

Abstract

Patients affected by beta-thalassemia major require lifelong transfusions because of insufficient or absent production of the beta chain of hemoglobin (Hb). A minority of patients are cured by allogeneic bone marrow transplantation. In the most severe of the hitherto available mouse models of beta-thalassemia, a model for human beta-thalassemia intermedia, we previously demonstrated that globin gene transfer in bone marrow cells is curative, stably raising Hb levels from 8.0-8.5 to 11.0-12.0 g/dL in long-term chimeras. To fully assess the therapeutic potential of gene therapy in the context of a lethal anemia, we now have created an adult model of beta(0)-thalassemia major. In this novel model, mice engrafted with beta-globin-null (Hbb(th3/th3)) fetal liver cells succumb to ineffective erythropoiesis within 60 days. These mice rapidly develop severe anemia (2-4 g/dL), massive splenomegaly, extramedullary hematopoiesis (EMH), and hepatic iron overload. Remarkably, most mice (11 of 13) treated by lentivirus-mediated globin gene transfer were rescued. Long-term chimeras with an average 1.0-2.4 copies of the TNS9 vector in their hematopoietic and blood cells stably produced up to 12 g/dL chimeric Hb consisting of mu alpha(2):hu beta(2) tetramers. Pathologic analyses indicated that erythroid maturation was restored, while EMH and iron overload dramatically decreased. Thus, we have established an adult animal model for the most severe of the hemoglobinopathies, Cooley anemia, which should prove useful to investigate both genetic and pharmacologic treatments. Our findings demonstrate the remarkable efficacy of lentivirus-mediated globin gene transfer in treating a fulminant blood disorder and strongly support the efficacy of gene therapy in the severe hemoglobinopathies.

Publication types

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

MeSH terms

  • Animals
  • Crosses, Genetic
  • Disease Models, Animal*
  • Erythropoiesis
  • Feasibility Studies
  • Female
  • Gene Expression Profiling
  • Genes, Lethal
  • Genetic Therapy*
  • Genetic Vectors / therapeutic use
  • Globins / analysis
  • Globins / genetics*
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Iron Overload / etiology
  • Iron Overload / prevention & control
  • Liver / cytology
  • Liver / embryology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Radiation Chimera
  • Recombinant Fusion Proteins / blood
  • Recombinant Fusion Proteins / genetics
  • Transduction, Genetic
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics
  • beta-Thalassemia / therapy*

Substances

  • Recombinant Fusion Proteins
  • Globins