IthaGenes: an interactive database for haemoglobin variations and epidemiology

Inherited haemoglobinopathies are the most common monogenic diseases

September 30, 2014


Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. The ITHANET Portal is a website dedicated to thalassaemia, which offers a range of services including continuous updates on the upcoming conferences or a database of organizations and networks concerned with haemoglobinopathies world-wide. This initiative recently announced the publication of an article describing the IthaGenes database and the companion IthaMaps tool in the open-access journal PLoS ONE.

IthaGenes is a new interactive database of haemoglobin variations, which stores information about genes and variations affecting haemoglobin disorders. It organises phenotype, relevant publications and external links, while embedding the NCBI Sequence Viewer for graphical representation of each variation. Finally, IthaGenes is integrated with the companion tool IthaMaps for the display of corresponding epidemiological data on distribution maps.

The ITHANET Portal represents an expanding resource for clinicians and researchers dealing with haemoglobinopathies, and a port of call for patients of haemoglobinopathies in search of professional advice. With IthaGenes and IthaMaps it has becomed an even more useful project:

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

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