IthaGenes is an interactive archive of all sequence variations affecting haemoglobinopathies, including the globin loci and disease modifiers, such as BCL11A and KLF1. Apart from the genes and mutations, 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 and gene.
Ithagenes provides information about genes and variations related to haemoglobin disorders. In addition, 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 is curated by The IthaGenes Curation Team, which includes the following scientists:
The curation is also facilitated with the contribution of members of the ITHANET Advisory Committee
|Erol Baysal||Alex Felice|
|Jan Traeger Synodinos||Ali Taher|
|Maria Sitarou||Yeshim Aydinok|
|Roberto Gambari||Swee Lay Thein|
|Suthat Fucharoean||Stefano Rivella|
|Lila Yannaki||Cornelis L. Hartveld|
|Petr Holub||John Old|
|Michael Angastiniotis||Marina Kleanthous|
|Jim Vadolas||Aurelio Maggio|
IthaGenes receives weekly updates of the most recent publications from PubMed using the following search query: "thalassemia[tiab] OR thalassaemia [tiab] OR hemoglobin [tiab] OR haemoglobin [tiab] OR sickle-cell [tiab] OR hemoglobinopathies [tiab] OR haemoglobinopathies [tiab]". The list of publications is manually filtered by the IthaGenes Curation Team to identify new variations and epidemiological information about haemoglobinopathies. The new data are subsequently added into the database.
In IthaGenes, you have three different search options:
Please click of the row showing the IthaGenes entry of your interest to navigate to the detailed description of the mutation.
Each IthaGenes entry is assigned to one functional category:
Please use the "Print" button at the top left of the table. This will take launch your browser's print options and you can print the information currently displayed on the table (in case you have filtered/searched the initial data).
At the page showing the detailed description of a specific IthaGenes entry, please use the "Print" button at the top of the page. This will take you to the print view of the page, where we can use the "Print this page" link to print the report.
The Sequence Viewer is a tool provided by the NCBI and is embedded in IthaGenes. On the viewer, you can see the location of each mutation and find neighbouring mutations that may be of interest. For more information on the use of the NCBI sequence viewer, please visit the official website.
Please use the Contact Form to report any correction or new content for IthaGenes. If you are referring to a specific IthaGenes mutation, please provide the IthaID in your comments.