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 3004 variations
in 376 genes, regulatory sequences or intergenic regions.
Recently Added Variations
| Name | Gene(s) | |
|---|---|---|
| 1 | -α6.9 | α2 |
| 2 | -44 G>A | δ |
| 3 | -130 A>G | δ |
| 4 | CAP +39 (C>T) | β |
| 5 | CD 13 GCC>TCC [Ala>Ser] | α2 |
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 This email address is being protected from spambots. You need JavaScript enabled to view it.
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.