Pharmacogenomics for Haemoglobinopathies Therapeutics

  • Aikaterini Gravia
  • Vasiliki Chondrou
  • Theodora Katsila
  • George P. PatrinosEmail author
Part of the Advances in Predictive, Preventive and Personalised Medicine book series (APPPM, volume 9)


Individual genetic composition has a fundamental role in the variations observed in drug response and tolerance. Pharmacogenomics aims to delineate the individual genetic profiles and drug response/toxicity. Nowadays, there are several medical disciplines where pharmacogenomics is readily applicable, while in others its usefulness is yet to be shown. Recent experimental evidence suggest that single nucleotide polymorphisms (SNPs) in modifier genes residing outside the human β-globin cluster are significantly associated with response to hydroxyurea (HU) treatment in β-type haemoglobinopathies patients, deducted from the increase in foetal haemoglobin levels. This chapter aims to provide an update and to discuss future challenges on the application of pharmacogenomics for β-type haemoglobinopathies therapeutics in relation to the current pharmacological treatment modalities for those disorders and the complexity of their pathophysiology.


β-thalassaemia Sickle cell disease Pharmacogenomics Biomarkers Single nucleotide polymorphisms Hydroxyurea treatment 



We wish to thank Professors Frank Grosveld, Alex E. Felice, Sjaak Philipsen, Drs. Adamantia Papacatzopoulou, Joseph Borg, Sonja Pavlovic, Marios Phylactides, Marina Kleanthous, Alexandra Kourakli, Marianthi Georgitsi and Mrs. Christina Tafrali, Marina Bartsakou-lia, Arsinoi Paizi, Emily Giannopoulou, and Olga Giannakopoulou for their contribution at the various stages of our projects related to pharmacogenomics for haemoglobinopathies. Our work is supported by a RDF (Cyprus, ΠΔΕ046_02) and European Commission (ITHANET Coordination action 026539) grants to GPP.


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Copyright information

© Springer International Publishing Switzerland 2015

Authors and Affiliations

  • Aikaterini Gravia
    • 1
  • Vasiliki Chondrou
    • 1
  • Theodora Katsila
    • 1
  • George P. Patrinos
    • 1
    Email author
  1. 1.School of Health Sciences, Department of PharmacyUniversity of PatrasPatrasGreece

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