Impact of epigenetic mechanisms on therapeutic approaches of hemoglobinopathies

Dario Costa, Maria Capuano, Linda Sommese, Claudio Napoli

Research output: Contribution to journalArticlepeer-review


Hemoglobinopathies are inherited disorders characterized by anomalies of structure, function or production of globin chains. From conception to adulthood, the different expressions over time of the various globin chains depend on the activation/deactivation of different globin genes through methylation and chromatin remodeling processes. The most significant clinical disorders are β-thalassemia and sickle cell disease. The clinical management of these disorders engages regular blood transfusions. Another therapy is represented by allogeneic hematopoietic cells transplantation. There are several studies based on the innovative therapeutic strategies that involve some epigenetic mechanisms focused on the reactivation of γ-globin gene expression. The induction of fetal hemoglobin expression in adulthood is an effective therapy for these disorders. Particularly interesting are the recent data on miRNAs showing the interaction of these molecules with different transcription factors such as MYB, KLF, BCL11A and SOX6. The aim of this review was to report an update on the dynamic epigenetic modifications as targets for therapy in hemoglobinopathies.

Original languageEnglish
JournalBlood cells, molecules & diseases
Issue number2
Publication statusPublished - Aug 1 2015


  • Epigenetic mechanism
  • Fetal hemoglobin inducers
  • Sickle cell disease
  • β-Thalassemia

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology
  • Cell Biology


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