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Epistasis and the sensitivity of phenotypic screens for beta thalassaemia

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Penman, Bridget S., Gupta, Sunetra and Weatherall, David J. (2015) Epistasis and the sensitivity of phenotypic screens for beta thalassaemia. British Journal of Haematology, 169 (1). pp. 117-128. doi:10.1111/bjh.13241

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Official URL: http://dx.doi.org/10.1111/bjh.13241

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Abstract

Genetic disorders of haemoglobin, particularly the sickle cell diseases and the alpha and beta thalassaemias, are the commonest inherited disorders worldwide. The majority of affected births occur in low-income and lower-middle income countries. Screening programmes are a vital tool to counter these haemoglobinopathies by: (i) identifying individual carriers and allowing them to make informed reproductive choices, and (ii) generating population level gene-frequency estimates, to help ensure the optimal allocation of public health resources. For both of these functions it is vital that the screen performed is suitably sensitive. One popular first-stage screening option to detect carriers of beta thalassaemia in low-income countries is the One Tube Osmotic Fragility Test (OTOFT). Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts. We demonstrate that interactions between the carrier states for beta thalassaemia and alpha thalassaemia, glucose-6-phosphate dehydrogenase deficiency and Southeast Asian Ovalocytosis have the potential to reduce the sensitivity of OTOFTs for beta thalassaemia heterozygosity to below 70%. Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur.

Item Type: Journal Article
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine
Divisions: Faculty of Science > Life Sciences (2010- )
Library of Congress Subject Headings (LCSH): Epistasis (Genetics), Thalassemia , Genetic disorders , Medical screening
Journal or Publication Title: British Journal of Haematology
Publisher: Wiley-Blackwell Publishing Ltd.
ISSN: 0007-1048
Official Date: April 2015
Dates:
DateEvent
April 2015Published
2 October 2014Accepted
Volume: 169
Number: 1
Page Range: pp. 117-128
DOI: 10.1111/bjh.13241
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Open Access
Funder: Wellcome Trust (London, England), Royal Society (Great Britain). Wolfson Research Merit Award (RSWRMA), Medical Research Council (Great Britain) (MRC), Anthony Cerami and Ann Dunne Foundation for World Health

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