Biochemistry (Moscow)

, Volume 83, Issue 4, pp 381–392 | Cite as

Genetic and Epigenetic Mechanisms of β-Globin Gene Switching

  • O. V. IarovaiaEmail author
  • A. P. Kovina
  • N. V. Petrova
  • S. V. Razin
  • E. S. Ioudinkova
  • Y. S. Vassetzky
  • S. V. Ulianov


Vertebrates have multiple forms of hemoglobin that differ in the composition of their polypeptide chains. During ontogenesis, the composition of these subunits changes. Genes encoding different α- and β-polypeptide chains are located in two multigene clusters on different chromosomes. Each cluster contains several genes that are expressed at different stages of ontogenesis. The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view. Alteration of balanced expression of globin genes, which usually occurs due to damage to adult β-globin genes, leads to development of severe diseases–hemoglobinopathies. In most cases, reactivation of the fetal hemoglobin gene in patients with β-thalassemia and sickle cell disease can reduce negative consequences of irreversible alterations of expression of the β-globin genes. This review focuses on the current state of research on genetic and epigenetic mechanisms underlying stage-specific switching of β-globin genes.


α- and β-globin genes domains hemoglobin switching transcriptional regulation spatial organization of chromatin 



a transcription factor protein


genome-wide association studies




hypersensitive site


locus control region


methyl-binding proteins


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Copyright information

© Pleiades Publishing, Ltd. 2018

Authors and Affiliations

  • O. V. Iarovaia
    • 1
    • 2
    Email author
  • A. P. Kovina
    • 1
    • 2
    • 3
  • N. V. Petrova
    • 1
    • 2
  • S. V. Razin
    • 1
    • 2
    • 3
  • E. S. Ioudinkova
    • 1
    • 2
  • Y. S. Vassetzky
    • 2
    • 4
  • S. V. Ulianov
    • 1
    • 2
    • 3
  1. 1.Institute of Gene BiologyRussian Academy of SciencesMoscowRussia
  2. 2.French–Russian Laboratory for Research in Oncology LIA1066RussiaFrance
  3. 3.Lomonosov Moscow State UniversityBiological FacultyMoscowRussia
  4. 4.Institut Gustave RoussyVillejuifFrance

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