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 2634 variations in 221 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

Please Contact Us to report new variations and/or report mistakes.

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 2017-03-21 14:57:16

Future events

  • Third Annual Cell-Free DNA in Clinical Oncology
  • Third Annual Enabling Technologies for Cell-Free DNA
  • Pan-European Consensus Conference on Newborn Screening for Haemoglobinopathies

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