IthaGenes

Welcome to the IthaGenes homepage

IthaGenes is an interactive archive of all sequence variations affecting haemoglobin disorders, including the globin loci and disease modifiers and polymorphisms with relevance for clinical diagnosis. IthaGenes stores and organizes phenotype, epidemiology, HPLC data, as well as related publications and external links, while embedding the NCBI sequence viewer in the website for detailed graphical representation of each variation.

IthaGenes currently stores 2637 variations in 223 genes, regulatory sequences or intergenic regions


Cite IthaGenes

Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M. (2014) IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology. PLoS ONE 9(7): e103020. doi: 10.1371/journal.pone.0103020



To report new variations and/or report mistakes, please return the completed IthaGenes Submission Form to ithanet@ithanet.eu or use the Contact Us form.


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

IthaGenes was last updated on 2017-04-20 13:09:21

Future events

  • Pan-European Consensus Conference on Newborn Screening for Haemoglobinopathies
  • ASGCT 2017 Annual Meeting
  • 7th IVI International Congress
  • 2nd Congress of Gene Therapy and Regenerative Medicine
  • European Human Genetics Conference 2017

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