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Combining bioinformatics and population genetics in the study of Thalassaemia

Black, M.L., Dunn, D., Tangtulyangkul, P., Hunter, A., Bellgard, M. and Bittles, A.H. (2008) Combining bioinformatics and population genetics in the study of Thalassaemia. In: International Conference on Medical and Community Genetics, 15 - 17 February, Chandigarh, India.


Introduction: The public database HbVar (, contains information on 1,324 molecular variants, including 979 haemoglobin variants and 395 thalassaemia entries. Although much research has been conducted on molecular and clinical aspects of thalassaemia and other haemoglobin variants, to date the underlying contribution of population genetics has received little attention.

Objectives : To investigate examples of geographical and regional variation in B-thalassaemia and other haemoglobinopathies in order to identify the strengths and weaknesses of the available data in HbVar, and their applicability to community- and population-based studies.

Methods: Information on haemoglobin variants listed in HbVar was initially examined and data on Indian, Pakistani and Italian individuals and communities were selected and abstracted. These data were then subjected to Venn analysis and GIS mapping.

Results: Few data were available for the Indian sub-continent. The initial analysis also revealed a lack of clear delineation of regional and community identification in the information listed for Indian and Pakistani individuals, thus limiting its application to population genetiCS analysis. To overcome these limitations, a method of analysis was developed for mapping Italian data on haemoglobin variants using Google Map technology.

Conclusions: In countries such as India and Pakistan, with multiple geographical, ethnic, language and social subdivisions, it is probable that many haemoglobin variants and thalassaemia mutations are community-specific. The ability to pinpoint regional and community variants would greatly assist genomic screening and prenatal diagnosis programmes. To fulfil the aims of the Asian Thalassaemia Network, the collection of appropriately detailed population data is urgently needed

Item Type: Conference Item
Murdoch Affiliation(s): Centre for Comparative Genomics
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