Molecular therapies in beta-thalassaemia

Br J Haematol. 2007 Feb;136(3):353-65. doi: 10.1111/j.1365-2141.2006.06408.x. Epub 2006 Nov 27.

Abstract

The beta-thalassaemias have a major global impact on health and mortality. Allogeneic haemopoietic stem cell transplantation is the only approach that may lead to a cure but this approach is not available to most patients. The mainstay treatment for the majority remains life-long blood transfusion in combination with a rigorous regime of iron chelation. Improved understanding of the pathophysiology and molecular basis of the disease has provided clues for more effective strategies that aim to correct the defect in beta-globin chain synthesis at the primary level or redress the alpha/beta-globin chain imbalance at the secondary level. Improved understanding of the molecular basis of the disease complications, such as iron overloading, has also provided clues for potential molecular targets at the tertiary level.

Publication types

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

MeSH terms

  • Chelating Agents / therapeutic use
  • Chromosomes, Human, Pair 11
  • Genetic Therapy / methods*
  • Globins / genetics
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Iron Overload / genetics
  • Oligonucleotides, Antisense / administration & dosage
  • RNA Interference
  • beta-Thalassemia / genetics
  • beta-Thalassemia / metabolism
  • beta-Thalassemia / therapy*

Substances

  • Chelating Agents
  • Oligonucleotides, Antisense
  • Globins