Transcriptional silencing of fetal hemoglobin by BCL11A

Vijay G. Sankaran, Jian Xu, Stuart H. Orkin

Research output: Chapter in Book/Report/Conference proceedingConference contribution

42 Scopus citations


The β-thalassemia syndromes are a major global health problem. Increased levels of fetal hemoglobin (HbF) ameliorate the clinical symptoms seen in this disease. By taking advantage of the natural variation in the level of HbF in various populations, we and others identified several common genetic variants in three major loci that regulate HbF levels. One of these variants resides in the gene BCL11A. We have studied the role of this gene product and established that BCL11A maintains silencing of γ-globin expression in adult erythroid cells and functions as a direct transcriptional regulator of the fetal to adult hemoglobin switch in humans. Moreover, we found that BCL11A plays a central role in the evolutionarily divergent globin gene switches of mammals. As a factor critical for γ-globin gene silencing, BCL11A should be considered as a therapeutic target to increase HbF in a directed manner in β-thalassemia patients.

Original languageEnglish (US)
Title of host publicationCooley's Anemia
Subtitle of host publicationNinth Symposium
PublisherBlackwell Publishing Inc.
Number of pages5
ISBN (Print)9781573317825
StatePublished - Aug 2010

Publication series

NameAnnals of the New York Academy of Sciences
ISSN (Print)0077-8923
ISSN (Electronic)1749-6632


  • BCL11A
  • fetal hemoglobin
  • globin switching
  • thalassemia
  • transcription

ASJC Scopus subject areas

  • Neuroscience(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • History and Philosophy of Science


Dive into the research topics of 'Transcriptional silencing of fetal hemoglobin by BCL11A'. Together they form a unique fingerprint.

Cite this