Functional requirements for phenotypic correction of murine beta-thalassemia: implications for human gene therapy

Blood. 2001 May 15;97(10):3275-82. doi: 10.1182/blood.v97.10.3275.

Abstract

As initial human gene therapy trials for beta-thalassemia are contemplated, 2 critical questions important to trial design and planning have emerged. First, what proportion of genetically corrected hematopoietic stem cells (HSCs) will be needed to achieve a therapeutic benefit? Second, what level of expression of a transferred globin gene will be required to improve beta-thalassemic erythropoiesis? These questions were directly addressed by means of a murine model of severe beta-thalassemia. Generation of beta-thalassemic mice chimeric for a minority proportion of genetically normal HSCs demonstrated that normal HSC chimerism levels as low as 10% to 20% resulted in significant increases in hemoglobin (Hb) level and diminished extramedullary erythropoiesis. A large majority of the peripheral red cells in these mice were derived from the small minority of normal HSCs. In a separate set of independent experiments, beta-thalassemic mice were bred with transgenic mice that expressed different levels of human globins. Human gamma-globin messenger RNA (mRNA) expression at 7% of the level of total endogenous alpha-globin mRNA in thalassemic erythroid cells resulted in improved red cell morphology, a greater than 2-g/dL increase in Hb, and diminished reticulocytosis and extramedullary erythropoiesis. Furthermore, gamma-globin mRNA expression at 13% resulted in a 3-g/dL increase in Hb and nearly complete correction of red cell morphology and other indices of inefficient erythropoiesis. These data indicate that a significant therapeutic benefit could be achieved with expression of a transferred globin gene at about 15% of the level of total alpha-globin mRNA in patients with severe beta-thalassemia in whom 20% of erythroid precursors express the vector genome.

Publication types

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

MeSH terms

  • Animals
  • Disease Models, Animal
  • Erythrocytes / metabolism
  • Erythrocytes / pathology
  • Erythropoiesis
  • Gene Expression
  • Genetic Therapy*
  • Globins / genetics
  • Hematopoiesis, Extramedullary
  • Hematopoietic Stem Cells / metabolism
  • Hemoglobins / analysis
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • Phenotype*
  • RNA, Messenger / analysis
  • Reticulocyte Count
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / therapy*

Substances

  • Hemoglobins
  • RNA, Messenger
  • Globins