Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies

Lancet. 2016 Jun 18;387(10037):2554-64. doi: 10.1016/S0140-6736(15)01341-0.

Abstract

Sickle-cell disease affects millions of individuals worldwide, but the global incidence is concentrated in Africa. The burden of sickle-cell disease is expected to continue to rise over the coming decades, adding to stress on the health infrastructures of many countries. Although the molecular cause of sickle-cell disease has been known for more than half a century, treatment options remain greatly limited. Allogeneic haemopoietic stem-cell transplantation is the only existing cure but is limited to specialised clinical centres and remains inaccessible for most patients. Induction of fetal haemoglobin production is a promising strategy for the treatment of sickle-cell disease. In this Series paper, we review scientific breakthroughs in epidemiology, genetics, and molecular biology that have brought reactivation of fetal haemoglobin to the forefront of sickle-cell disease research. Improved knowledge of the regulation of fetal haemoglobin production in human beings and the development of genome editing technology now support the design of innovative therapies for sickle-cell disease that are based on fetal haemoglobin.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review
  • Published Erratum

MeSH terms

  • Anemia, Sickle Cell / genetics
  • Anemia, Sickle Cell / therapy*
  • Animals
  • Carrier Proteins / genetics
  • Chromatin / physiology
  • Fetal Hemoglobin / biosynthesis
  • Fetal Hemoglobin / genetics
  • Fetal Hemoglobin / therapeutic use*
  • Gene Deletion
  • Genome-Wide Association Study
  • Humans
  • Mice
  • Nuclear Proteins / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Repressor Proteins
  • Transcription, Genetic / genetics

Substances

  • BCL11A protein, human
  • Carrier Proteins
  • Chromatin
  • Nuclear Proteins
  • Repressor Proteins
  • Fetal Hemoglobin