Molecular Diagnosis & Therapy

, Volume 23, Issue 2, pp 223–234 | Cite as

Omics Studies in Hemoglobinopathies

  • Eleni KatsantoniEmail author
Review Article


Hemoglobinopathies include all genetic diseases of hemoglobin and are grouped into thalassemia syndromes and structural hemoglobin variants. The β-thalassemias constitute a group of severe anemias with monogenic inheritance, caused by β-globin gene mutations. This review is focused on omics studies in hemoglobinopathies and mainly β-thalassemia, and discusses genomic, epigenomic, transcriptomic, proteomic and metabolomic findings. Omics analyses have identified various disease modifiers with an impact on disease severity and efficacy of treatments. These modifiers have contributed to the understanding of globin genes regulation/hemoglobin switching and the development of novel therapies. How omics data and their integration can contribute to efficient patient stratification, therapeutic management, improvements in existing treatments and application of novel personalized therapies is discussed.


Compliance with Ethical Standards


ΕΚ was supported by EU FP7 THALAMOSS Project number 306201.

Conflict of interest

EK has no conflicts to report, declares no competing financial interests, and apologizes to those whose work was not cited due to space limitations.


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Basic Research CenterBiomedical Research Foundation, Academy of AthensAthensGreece

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