Haemoglobinopathies are the commonest monogenic diseases, with millions of carriers and patients worldwide. Online resources for haemoglobinopathies are largely divided into specialised sites catering for patients, researchers and clinicians separately. However, the severity, ubiquity and surprising genetic complexity of the haemoglobinopathies call for an integrated website as a free and comprehensive repository and tool for patients, scientists and health professionals alike.

The ITHANET portal is an expanding resource for clinicians and researchers dealing with haemoglobinopathies. It integrates information on news, events, publications, clinical trials and haemoglobinopathy-related organisations and experts and, most importantly, databases of variations (IthaGenes), epidemiology (IthaMaps) and HPLC data (IthaChrom).


Funding - Collaborations

The ITHANET portal was initially developed by the Cyprus Institute of Neurology and Genetics (CING) as part of the ITHANET project (RI-2004-026539), a two-year (2006-2008) project funded by the European Union FP6 to assess the importance of collaboration on thalassaemia and to provide recommendations on future electronic infrastructure development. The portal was redesigned and redeveloped as part of the ITHANET+ project (ΤΠΕ/ΟΡΙΖΟ/0308(ΒΙΕ)/16), funded by the Research Promotion Foundation (RPF) of Cyprus. Since 2011, the ITHANET portal has been under constant expansion with two additional redesigns supported by internal CING funding. In 2019, the Cyprus Research and Innovation Foundation (RIF) funded the expansion and further upgrade of the portal (EXCELLENCE/1216/256).

ITHANET had a central role in the FP7 project THALAMOSS and is a core member of the Global Globin Network (GGNet). The GGNet, an initiative of the Human Variome Project, is officially linked to the ITHANET portal after review of all known existing databases in the field and with additional partnership through a shared Expert Panel application for haemoglobinopathy-related variant classification under the Clinical Genome (ClinGen) Resource. The Hemoglobinopathy Variant Curation Expert Panel was recently approved by ClinGen. Moreover, the ITHANET portal is an active member of the European Reference Network ERN-EuroBloodNet for rare haematological diseases and is involved in the development of patient registries for the network, specifically RADeep and ENROL.


ITHANET Committees

The ITHANET International Advisory Committee advises the ITHANET Development Team on possible additions and improvements to the portal and gives expert opinions when needed. 

The International Advisory Committee Members:

  • Marina Kleanthous
  • Erol Baysal
  • Jan Traeger Synodinos
  • Maria Sitarou
  • Roberto Gambari
  • Suthat Fucharoean
  • Petr Holub
  • Michael Angastiniotis
  • Jim Vadolas
  • Soteroulla Christou
  • Alex Felice
  • Ali Taher
  • Yeshim Aydinok
  • Swee Lay Thein
  • Stefano Rivella
  • Cornelis L. Hartveld
  • John Old
  • Aurelio Maggio

The Development Team Members:

  • Marina Kleanthous
  • Petros Kountouris
  • Carsten W. Lederer
  • Coralea Stephanou
  • Stella Tamana
  • Anna Minaidou
  • Maria Xenophontos
  • Kyriaki Michailidou