Editing an α-globin enhancer in primary human hematopoietic stem cells as a treatment for β-thalassemia

Nat Commun. 2017 Sep 4;8(1):424. doi: 10.1038/s41467-017-00479-7.

Abstract

β-Thalassemia is one of the most common inherited anemias, with no effective cure for most patients. The pathophysiology reflects an imbalance between α- and β-globin chains with an excess of free α-globin chains causing ineffective erythropoiesis and hemolysis. When α-thalassemia is co-inherited with β-thalassemia, excess free α-globin chains are reduced significantly ameliorating the clinical severity. Here we demonstrate the use of CRISPR/Cas9 genome editing of primary human hematopoietic stem/progenitor (CD34+) cells to emulate a natural mutation, which deletes the MCS-R2 α-globin enhancer and causes α-thalassemia. When edited CD34+ cells are differentiated into erythroid cells, we observe the expected reduction in α-globin expression and a correction of the pathologic globin chain imbalance in cells from patients with β-thalassemia. Xenograft assays show that a proportion of the edited CD34+ cells are long-term repopulating hematopoietic stem cells, demonstrating the potential of this approach for translation into a therapy for β-thalassemia.β-thalassemia is characterised by the presence of an excess of α-globin chains, which contribute to erythrocyte pathology. Here the authors use CRISP/Cas9 to reduce α-globin expression in hematopoietic precursors, and show effectiveness in xenograft assays in mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antigens, CD34 / metabolism
  • Base Sequence
  • CRISPR-Cas Systems
  • Cells, Cultured
  • Enhancer Elements, Genetic / genetics*
  • Female
  • Gene Editing*
  • Gene Knockdown Techniques
  • Genome, Human
  • Hematopoietic Stem Cells / metabolism*
  • Heterografts
  • Humans
  • Mice
  • Sequence Deletion / genetics
  • Single-Cell Analysis
  • alpha-Globins / genetics*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / therapy*

Substances

  • Antigens, CD34
  • alpha-Globins