Article
Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing.
Annals of hematology - 1 Dec 2010
Haywood Anna, Dreau Helene, Timbs Adele, Schuh Anna, Old John, Henderson Shirley
Abstract excerpt
Non-deletional α(+)-thalassaemia is associated with a higher degree of morbidity and mortality than deletional forms of α(+)-thalassaemia. Screening for the common deletional forms of α-thalassaemia by Gap-PCR is widely practiced; however, the detection of non-deletional α-thalassaemia mutations is technically more labour-intensive and expensive, as it requires DNA sequencing. In addition, the presence of four...
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