IthaGenes: an interactive database for haemoglobin variations and epidemiology

PLoS One. 2014 Jul 24;9(7):e103020. doi: 10.1371/journal.pone.0103020. eCollection 2014.

Abstract

Inherited haemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. At present, we know several hundred disease-causing mutations on the globin gene clusters, in addition to numerous clinically important trans-acting disease modifiers encoded elsewhere and a multitude of polymorphisms with relevance for advanced diagnostic approaches. Moreover, new disease-linked variations are discovered every year that are not included in traditional and often functionally limited locus-specific databases. This paper presents IthaGenes, a new interactive database of haemoglobin variations, which stores information about genes and variations affecting haemoglobin disorders. In addition, IthaGenes 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. IthaGenes is incorporated in the ITHANET community portal and is free and publicly available at http://www.ithanet.eu/db/ithagenes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Genetic*
  • Globins / genetics*
  • Hemoglobinopathies / classification
  • Hemoglobinopathies / epidemiology
  • Hemoglobinopathies / genetics*
  • Humans
  • Internet
  • Molecular Epidemiology
  • Software*

Substances

  • Globins

Grant support

This work was supported by the European Community Sixth Framework Programme (ITHANET – grant number RI-2004-026539) and Seventh Framework Programme (THALAMOSS - grant agreement no. 306201) and the Research Promotion Foundation of Cyprus (grant number ΤΠE/ΟΡΙΖΟ/0308(BIE)/16). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.