Frequently Asked Questions - IthaGenes database

FAQs - IthaGenes database

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:

  • Dr. Petros Kountouris
  • Dr. Carsten W Lederer
  • Dr. Coralea Stephanou
  • Dr. John Old
  • Dr. Marina Kleanthous


The curation is also facilitated with the contribution of members of the ITHANET Advisory Committee

The Committee Members:

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
Soteroulla Christou  

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:

  1. Live Search Box: You can use the "Search" box at the top of the table listing all IthaGenes tables (Gene list, Mutation list and References list). This provide very fast live search based on the text you type in the search box. Using this search option, you can only search the columns that are shown any given time in the table.
  2. Quick Filtering: A second option is using the Quick Filtering options that can be found in the menu over the Mutations table. These options are predefined searches in order to make common searches easily accessible and fast and eliminate the need to use the more complex Advanced Search form (see below)
  3. Advanced Search: If you cannot find the required information about particular variations using the above two options, we provide an Advanced Search option, where you can search for every field in the database using any combination.

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:

  1. Globin-gene causative mutations are mutations located at the globin loci and cause a haemoglobinpathy
  2. Disease modifying mutations are mutations located on other loci of the genome and cause a particular phenotype (not necessarily a haemoglobinpathy). There entries may also have a trans-acting effect on genes related to haemoglobinopathies.
  3. Neutral polymorphisms include polymorphisms that do not have any effect on the phenotype or may have a trans-acting effect on the genes related to haemoglobinopathies

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 note that the Sequence Viewer is not installed on ITHANET servers, but it is embedded in the page using javascript. Therefore, ITHANET is not responsible for occasional unavailability of the viewer.

When available, IthaGenes provides external links to HbVar, NCBI dbSNP, OMIM, ClinVar and SwissVar for each variation. For each gene, we provide links to NCBI Gene, NCBI GenBankHGNC, UniProt, OMIM and PDB.  

For any suggestions about additional external links please use the Contact Form

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.