Epistasis and the sensitivity of phenotypic screens for beta thalassaemia.
Bottom Line: For both of these functions it is vital that the screen performed is suitably sensitive.Here we introduce a population genetic framework within which to quantify the likely sensitivity and specificity of the OTOFT in different epidemiological contexts.Our results therefore caution against the widespread application of OTOFTs in regions where these erythrocyte variants co-occur.
Affiliation: Department of Zoology, University of Oxford, Oxford, UK.Show MeSH
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Mentions: In Papua New Guinea, reported SAO frequencies range from 0·0005 to 0·074 (Patel et al, 2004); in Sumba Island, Indonesia, an SAO frequency of 0·057 has been reported (Shimizu et al, 2005). Even if SAO heterozygosity completely masks the osmotic fragility of beta thalassaemia carriers, such SAO frequencies alone will only reduce the sensitivity of OTOFTs as a test for beta thalassaemia to between 0·8 and 0·9 (Fig4).
Affiliation: Department of Zoology, University of Oxford, Oxford, UK.