IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

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.

The European Hematology Association Roadmap for European Hematology Research: a consensus document

“…Recently, purified cells have been characterized using "omics" techniques to determine their transcriptional profiles, epigenetic programs, and responses to cell signaling. A database dedicated to erythroid disorders has been established 18 aiming to integrate data from fundamental and translational research with data from routine clinical care. Translational research has resulted in optimized BMT protocols, magnetic resonance imaging (MRI) monitoring of iron overload, improved iron chelation therapies, and targeted inhibition of signaling pathways mutated in (pre)leukemic conditions.…”

Molecular diagnosis of α‐thalassemia in a multiethnic population

“…α‐Thalassemia occurs in almost all populations . Worldwide, more than 250 molecular defects known to cause α‐thalassemia have been described so far . The disease is very common in Southeast Asia, and a high frequency of α‐globin gene defects has also been described in the Mediterranean area and in the Middle East .…”

Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-β-thalassaemia syndrome

“…Most are those of Hb S, with other Hb variants in cis 8. For Hb E, only two double mutations have been documented, that is, Hb Corbeil (HBB:c.[79G>A;314G>C]) and Hb T-Cambodia (HBB:c.[79G>A;364G>C]).…”

“…This β IVSI#7(A>G) (HBB:c.92+7A>G) has been deposited by Traeger-Synodinos J (unpublished data) on the IthaGenes database 8. In a Greek family, an individual heterozygous for this mutation was associated with normal haematological phenotype, but compound heterozygous with an in trans β-thalassaemia showed a mild thalassaemia phenotype.…”