Frequently Asked Questions (FAQs)

This page contains a number of frequently asked questions and answers. If this page does not address your questions, please use our Contact Form.
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The ITHANET Portal is a website dedicated to thalassaemia and other haemoglobinopathies.
The portal provides:

  1. the latest news, events, publications and clinical trials in the field,
  2. easy access to international communities, organisations and experts concerned with haemoglobinopathies,
  3. techniques, protocols, guidelines and information on haemoglobinopathies and
  4. free access to databases an tools relevant to different aspects of haemoglobinopathies, such as sequence variations, epidemiology and phenotype

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Registered users are automatically signed to the ITHANET Newsletter list and, thus, are able to receive to the inbox the most recent updates and announcements of the ITHANET portal.

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Please use the Contact Form to ask any questions or make any comment for the ITHANET Portal.

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Please click on "News" under the option "Latest information" of the main menu to see a list of the most recent news added in ITHANET.
You can click on the title of the item of your interest to read more information or to share it to social networks.

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Please click on "Events" under the option "Latest information" of the main menu to see a list of all future events related to haemoglobinopathies.
You can use the "Search" box to perform live search in the table, while you can find more information by clicking on the title and navigate to the official website of the event.
Finally, we also keep an archive of past events, which can be found by clicking on the link below the events table.

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Please click on "Publications" under the option "Latest information" of the main menu to see the list of publications related to haemoglobinopathies.
This list is updated every week.
You can use the "Search" box to find publications of your interest, while you can navigate to an article's PubMed page by clicking on the publication title.

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You can see the list of clinical trials related to haemoglobinopathies by navigating to "Clinical Trials" under the option "Latest information" of the main menu.
The list of clinical trials is updated every week and retrieved from www.clinicaltrials.gov.
You can use the "Search" box to perform live search in the table, while you can navigate to the trial's description page at www.clinicaltrials.gov by clicking on the title.

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Please use the "Community" option of the main menu to see the list of organisations and experts related to haemoglobinopathies.
Each organisations is assigned to one or more types based on its activities. By clicking on the organisation's name, you can see detailed information about the organisation and navigate to its website for more information.
Similarly, the expertise of each expert is reported in the "Experts" table, with more detailed description and contact details available by clicking each expert's name.

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ITHANET is supported by the European Union through FP6 and FP7research projects, the Cyprus Research Promotion Foundation and the Cyprus Institute of Neurology and Genetics.

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Yes, all ITHANET updates and announcements are shared on Twitter, Facebook and LinkedIn.

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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.

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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 and gene.

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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

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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.

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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.

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Please click of the row showing the IthaGenes entry of your interest to navigate to the detailed description of the mutation.

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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

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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).

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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.

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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.

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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 GenBank, HGNC, UniProt, OMIM and PDB.

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

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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.

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IthaMaps is a database that stores and organises information about the epidemiology of haemoglobinopathies and illustrates and compares the data on a map.

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IthaMaps provides the following information:

  1. Information of haemoglobinopathy-related healthcare policies in each country, including screening and prevention programmes, existence and availability of electronic parient registries and dedicated treament centres etc.
  2. Information on the status of major haemoglobinopathies in each country, including prevalence and incidence of thalassaemias and sickle-cell disease.
  3. Relative allele frequencies of specific mutations in each country, with detailed information about each study (sample size, ethnic groups, specific geographical areas etc.). Where possible, a more detailed region-specific presentation of the frequencies is provided within the country.

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IthaMaps is curated by The IthaMaps 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

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Like IthaGenes, the updating of IthaMaps is based on published literature the curation team receives every week 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 IthaMaps Curation Team to identify new epidemiological information about haemoglobinopathies.
The new data are subsequently added into the database.

Information on healthcare policies are not always available in published articles, so further annotation is achieved with personal communication with local experts and from information from presentations and reports.

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A search form is available at the top of IthaMaps page.
The user can search for a specific country or for information about healthcare policies, haemoglobinopathy status and relative frequencies of specific mutations.
Additional options appear based on the selection: Healthcare policies and major haemoglobinopathies status are available for the world map only, while country selection and specific mutation frequencies can be combined. In the latter case, region-specific information are displayed on the country map, if available.
Information on the frequencies of specific muations can be customised based on the selection of country- or region-specific representation, sample size and the type of statistics to be used for the illustration (average values, minimum or maximum).

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IthaMaps uses the HighMaps javascript library for displaying the epidemiological information, which provides exporting functionality.
The resulting map after any custom search can be exported in a variety of formats and be used for your presentations or for other purposes.
To export a map, you can use the button at the top right of the map.

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Please use the Contact Form to report any correction or new content for IthaMaps.

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IthaPhen is a searchable and intuitive database of public anonymised case reports and it integrates genotypic data with haematological, biochemical, histological, and clinical data.

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IthaPhen consists of primary case level data and aggregated, visualised reports per queried genotype.IthaPhen integrates genotypic data with haematological, biochemical, histological, and clinical data.

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IthaPhen is curated by The IthaMaps Curation Team, which includes the following scientists:

  • Dr. Petros Kountouris
  • Dr. Coralea Stephanour
  • Dr. Anna Minaidou
  • Dr. Marina Kleanthous

The curation is also facilitated with the contribution of data by its users.

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IthaPhen allows search by specific allele and/or by allele phenotype.

When querying the database for specific allele, first select the specific variant filter, then the locus it resides and the variant from the dropdown variant list.

If you would like to query the database for individuals with variants classified under an IthaGenes allele phenotype group, select the allele phenotype filter and then one or multiple allele phenotypes. Follow the same steps for the second allele. Heterozygosity can be declared with the wild type filter in Allele 2. You can query complex genotypes by adding more rows and providing filters for the other loci.

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If your search does not match any archived data, please advise Relevant Searches tab for queries involving variants in your primary search. If searching for a combination of variant and globin phenotype, the latter is ignored in relevant searches.

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Individual case data can be viewed by following the patient ID link from all tabs specific for a category of parameters.

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If the study did not test for all possible variants common for the ethnic group of the individual, then the information was kept with a specific mark – “unknown” — to record the information whilst also denoting that it is not complete.

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Phenotypic effects which cannot be quantified and are annotated with categorical values are often subjected to different classification systems in different publications.

For example, depending on the research group the result of a similar histological experiment for anaemia could be reported as “marked” or “moderate”.

Therefore, the number of qualitative categories used in IthaPhen was reduced to those most commonly used by the community and less common ones were mapped to this set after careful curation e.g. when one publication reported “marked” anaemia and another “moderate” anaemia, we used the term/annotation “moderate” for both these terms.

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In cases where haemoglobin was measured by different methods for the same individual, we keep both measurements for the individuals record but use only the measurement with the most trusted method for calculating the summary statistics of the genotype. You can find the list of methods by priority order, below:

  1. High-performance liquid chromatography (HPLC)
  2. Capillary electrophoresis (CE)
  3. Hb Electrophoresis (E)
  4. Chromatographic profile (ChP)
  5. Alkali denaturation (AD)
  6. Column chromatography (CC)
  7. Spectrophotometry (S)
  8. Elution electrophoresis (EE)
  9. Monoclonal antibody (MA)
  10. Betke method (BM)
  11. Isoelectrofocusing (IEF)
  12. Immunofluorescence (IF)
  13. Mass spectrometry (MS)
  14. Microchromatofocusing (M)
  15. Denaturing Gradient Gel Electrophoresis (DGGE)
  16. DEAE- Sephadex chromatography (DSC)
  17. Microchromatography (MG)
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IthaPhen accepts direct contributions of unpublished data. Please complete the submission form at the following link. If you are providing case data of individuals with novel variants, please also complete section B of the IthaGenes submission form. In any other case, please provide the relevant IthaID when providing the individual’s genotype.

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The Offspring PND/PGD recommendation tab on IthaPhen provides recommendations about prenatal or preimplantation genetic diagnosis, depending on the user-defined genotype query, as per the EMQN guidelines.