Current Position

Emeritus Professor
Former Head of the Molecular Genetics Thalassaemia Department (1997–2023)
Founder and Former Course Coordinator of MM101: Molecular Basis of Monogenic Diseases (2012–2023)
The Cyprus Institute of Neurology & Genetics
E-mail: [email protected]


Research Interests

•    Electronic infrastructure development for thalassaemia
•    Gene therapy for thalassaemia
•    Drug therapy for thalassaemia using HbF inducers
•    Development of advanced diagnostics for thalassaemia
•    Non-invasive prenatal diagnosis (NIPD) for thalassaemia
•    Genotype/phenotype correlation studies in thalassaemia

Marina Kleanthous has published over 100 peer-reviewed papers and contributed to chapters for 3 books. She has given more than 50 lectures in conferences in Cyprus and abroad and has organized more than 10 conferences and workshops. She conceived and was involved in the organisation of the National Thalassaemia Meeting of Cyprus for 12 years.



Marina Kleanthous (PhD 1990 Neurochemistry, University of Athens) has been at the Molecular Genetics Thalassaemia Department at the CING since 1991, and Head of the Department since 1997. Prior to that, she had carried out research in the Fishery Department of National Center for Marine Research (NCMR) and the Institute of Molecular Biology and Biotechnology (IMBB) of the Research Centre of Crete. She has extensive experience in the diagnosis of different forms of thalassaemia and other haemoglobinopathies and other rare hereditary disorders, prenatal diagnosis for thalassaemia and other diseases and Preimplantation Genetic Diagnosis (PGD) for thalassaemia. She has been involved in more than 14 research projects (totalling over €18.5 million) in the last 11 years of her work and has been the coordinator of at least 10 of those. Under her guidance, the Molecular Genetics Thalassaemia Department became an internationally acknowledged reference centre for haemoglobinopathies, with achievements that included implementing the world’s largest database and web portal in the field (the ITHANET Portal), becoming the dedicated developer of patient registries for the European Reference Network EuroBloodNet, proceeding to preclinical studies for the gene addition and gene editing in haematopoietic stem and progenitor cells, and offering NGS-based routine thalassaemia diagnostics and exploratory diagnostics of other rare anaemias. Marina Kleanthous retired as Head of Department on 30 April 2023.


Selected Publications
For a full and updated list of publications, see here

1.    Minaidou A, Tamana S, Stephanou C, Xenophontos M, Harteveld CL, Bento C, Kleanthous M, Kountouris P. A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies. Int J Mol Sci. 2022 Dec 14;23(24):15920. doi: 10.3390/ijms232415920.
2.    Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA, Kakouri AC; ClinGen Hemoglobinopathy Variant Curation Expert Panel; Kleanthous M, Kountouris P.Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713.
3.    Constantinou CG, Karitzi E, Byrou S, Stephanou C, Michailidou K, Makariou C, Hadjilambi G, Christofides A, Kleanthous M, Papasavva T. Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia. Clin Chem. 2022 Jul 27;68(8):1053-1063. doi: 10.1093/clinchem/hvac076.
4.    Papasavva PL, Patsali P, Loucari CC, Kurita R, Nakamura Y, Kleanthous M, Lederer CW. CRISPR Editing Enables Consequential Tag-Activated MicroRNA-Mediated Endogene Deactivation. Int J Mol Sci. 2022 Jan 19;23(3):1082. doi: 10.3390/ijms23031082.
5.    Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24.
6.    Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Mañú-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30.
7.    Koniali L, Lederer CW, Kleanthous M. Therapy Development by Genome Editing of Hematopoietic Stem Cells. Cells. 2021 Jun 14;10(6):1492. doi: 10.3390/cells10061492. 
8.    Papasavva PL, Papaioannou NY, Patsali P, Kurita R, Nakamura Y, Sitarou M, Christou S, Kleanthous M, Lederer CW. Distinct miRNA Signatures and Networks Discern Fetal from Adult Erythroid Differentiation and Primary from Immortalized Erythroid Cells. Int J Mol Sci. 2021 Mar 31;22(7):3626. doi: 10.3390/ijms22073626.
9.    Patsali P, Papasavva P, Christou S, Sitarou M, Antoniou MN, Lederer CW, Kleanthous M. Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBBIVSI-110 (G > A) β-Thalassemia. Int J Mol Sci. 2020 Sep 11;21(18):6671. doi: 10.3390/ijms21186671.
10.    Nanou A, Toumpeki C, Fanis P, Bianchi N, Cosenza LC, Zuccato C, Sentis G, Giagkas G, Stephanou C, Phylactides M, Christou S, Hadjigavriel M, Sitarou M, Lederer CW, Gambari R, Kleanthous M, Katsantoni E. Sex-specific transcriptional profiles identified in β-thalassemia patients. Haematologica. 2021 Apr 1;106(4):1207-1211. doi: 10.3324/haematol.2020.248013. PMID: 32817281; PMCID: PMC8018115.
11.    Kountouris P, Michailidou K, Christou S, Hadjigavriel M, Sitarou M, Kolnagou A, Kleanthous M, Telfer P. Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus. Haematologica. 2021 Sep 1;106(9):2458-2468. doi: 10.3324/haematol.2020.260224. PMID: 32732363; PMCID: PMC8409026.
12.    Theodorou A, Phylactides M, Katsantoni E, Vougas K, Garbis SD, Fanis P, Sitarou M, Thein SL, Kleanthous M. Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures. J Clin Med. 2020 Jan 3;9(1):134. doi: 10.3390/jcm9010134. PMID: 31947809; PMCID: PMC7019605.
13.    Patsali P, Mussolino C, Ladas P, Floga A, Kolnagou A, Christou S, Sitarou M, Antoniou MN, Cathomen T, Lederer CW, Kleanthous M. The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements. J Clin Med. 2019 Nov 13;8(11):1959. doi: 10.3390/jcm8111959. PMID: 31766235; PMCID: PMC6912506. 
14.    Stephanou C, Tamana S, Minaidou A, Papasavva P, Kleanthous M, Kountouris P. Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies. J Clin Med. 2019 Nov 9;8(11):1927. doi: 10.3390/jcm8111927. PMID: 31717530; PMCID: PMC6912721.
15.    Fanis P, Kousiappa I, Phylactides M, Kyrri A, Hadjigavriel M, Christou S, Sitarou M, Kleanthous M. A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major. Hum Mutat. 2019 Oct;40(10):1768-1780. doi: 10.1002/humu.23817. Epub 2019 Jun 24. PMID: 31115947; PMCID: PMC6790707.
16.    Patsali P, Turchiano G, Papasavva P, Romito M, Loucari CC, Stephanou C, Christou S, Sitarou M, Mussolino C, Cornu TI, Antoniou MN, Lederer CW, Cathomen T, Kleanthous M. Correction of IVS I-110(G>A) β-thalassemia by CRISPR/Cas-and TALEN-mediated disruption of aberrant regulatory elements in human hematopoietic stem and progenitor cells. Haematologica. 2019 Nov;104(11):e497-e501. doi: 10.3324/haematol.2018.215178. Epub 2019 Apr 19. PMID: 31004018; PMCID: PMC6821606.
17.    Patsali P, Kleanthous M, Lederer CW. Disruptive Technology: CRISPR/Cas-Based Tools and Approaches. Mol Diagn Ther. 2019 Apr;23(2):187-200. doi: 10.1007/s40291-019-00391-4. PMID: 30945167; PMCID: PMC6469582.
18.    Papasavva P, Kleanthous M, Lederer CW. Rare Opportunities: CRISPR/Cas-BasedTherapy Development for Rare Genetic Diseases. Mol Diagn Ther. 2019 Apr;23(2):201-222. doi: 10.1007/s40291-019-00392-3. PMID: 30945166; PMCID: PMC6469594.
19.    Byrou S, Makrigiorgos GM, Christofides A, Kallikas I, Papasavva T, Kleanthous M. Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia. PLoS One. 2018 Jul 25;13(7):e0200348. doi: 10.1371/journal.pone.0200348. PMID: 30044883; PMCID: PMC6059429.
20.    Patsali P, Papasavva P, Stephanou C, Christou S, Sitarou M, Antoniou MN, Lederer CW, Kleanthous M. Short-hairpin RNA against aberrant HBBIVSI-110(G>A) mRNA restores β-globin levels in a novel cell model and acts as mono- and combination therapy for β-thalassemia in primary
21.    hematopoietic stem cells. Haematologica. 2018 Sep;103(9):e419-e423. doi: 10.3324/haematol.2018.189357. Epub 2018 Apr 26. PMID: 29700171; PMCID: PMC6119153.
22.    Philippou S, Mastroyiannopoulos NP, Makrides N, Lederer CW, Kleanthous M, Phylactou LA. Selection and Identification of Skeletal-Muscle-Targeted RNA Aptamers. Mol Ther Nucleic Acids. 2018 Mar 2;10:199-214. doi: 10.1016/j.omtn.2017.12.004. Epub 2017 Dec 9. PMID: 29499933; PMCID: PMC5862129. 
23.    Stephanou C, Papasavva P, Zachariou M, Patsali P, Epitropou M, Ladas P, Al-Abdulla Christou S, Antoniou Nm, Lederer CW, Kleanthous M. Suitability of small diagnostic peripheral-blood samples for celltherapy studies. Cytotherapy, 2017: 19:311-326.
24.    Clark B, Shooter C, Smith F, Brawand D, Steedman L, Oakley M, Rushton P, Rooks H, Wang X, Drousiotou A, Kyrri A, Hadjigavriel M, Will A, Fisher C, Higgs DR, Phylipsen M, Harteveld C, Kleanthous M, Thein SL. Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. Br J Haematol. 2016 July 29. doi: 10.1111/bjh.14294.
25.    Christodoulou I, Patsali P, Stephanou C, Antoniou M, Kleanthous M, Lederer CW. Measurement of lentiviral vector titre and copy number by cross-apecies duplex quantitative PCR. Gene Therapy, vol 23, 23 July 2016:113-118. DOI:10.1038/gt.2015.60 
26.    Theodorou A, Phylactides M, Forti L, Cramarossa MR, Spyrou P, Gambari R. Thein SL, Kleanthous M. The Investigation of resveratrol and analogs as potential inducers of fetal haemoglobin. Blood Cells, Molecules and Diseases. Vol 58, May 2016:6-12.
27.    Kountouris P, Kousiappa I, Papasavva T, Christopoulos G, Pavlou E, Petrou M, Feleki X, Karitzie E, Phylactides M, Fanis P, Lederer CW, Kyrri R. A, Kalogerou E, Makariou Ch, Ioannou Ch, Kythreotis L, Hadjilambi G, Andreou N, Pangalou E, Savvidou I, Angastiniotis M, Hadjigavriel M, Sitarou M, Kolnagou A, Kleanthous M, Christou S. The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study. Scientific Reports Sci Rep. 2016 May 20;6:26371. doi: 10.1038/srep26371.
28.    Papasavva T, Martin P, Legler TJ, Liasides M, Anastasiou G, Christofides A, Christodoulou T, Demetriou S, Kerimis P, Kontos C, Leontiades G, Papapetrou D, Patroclos T, Phylaktou M, Zottis N, Karitzie E, Pavlou E, Kountouris P, Veldhuisen B, van der Schoot E, Kleanthous M. Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus. BMC Res Notes. 2016 Apr 1;9(1):198. 
29.    Karponi G, Psatha N, Lederer CW, Adair JE, Zervou F, Zogas N, Kleanthous M, Tsatalas C, Anagnostopoulos A, Sadelain M, Rivière I, Stamatoyannopoulos G, Yannaki E. Plerixafor+G-CSF-mobilized CD34+ cells represent an optimal graft source for thalassemia gene therapy. Blood. 2015 Jul 30;126(5):616-9. doi: 10.1182/blood-2015-03-629618. Epub 2015 Jun 18.
30.    Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology. PLoS One. July 24;9(7), 2014.
31.    Fanis P, Kousiappa I, Phylactides M, Kleanthous M. Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach. BMC Genomics. Feb 6;15(1):108, 2014.

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