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dc.contributor.authorSakorn Pornpraserten_US
dc.contributor.authorWatcharee Prasingen_US
dc.date.accessioned2018-09-04T09:57:09Z-
dc.date.available2018-09-04T09:57:09Z-
dc.date.issued2014-03-01en_US
dc.identifier.issn16000609en_US
dc.identifier.issn09024441en_US
dc.identifier.other2-s2.0-84894267345en_US
dc.identifier.other10.1111/ejh.12246en_US
dc.identifier.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84894267345&origin=inwarden_US
dc.identifier.urihttp://cmuir.cmu.ac.th/jspui/handle/6653943832/53753-
dc.description.abstractBackground: The α(0)-thalassemia South-East Asian (SEA)-type deletion is the most common genetic disorder in the Asian population. Couples who are both carriers have a 25% chance of conceiving Bart's hydrops fetalis. Therefore, results from carrier screening and prenatal diagnosis frequently need to be available rapidly. The aim of this study was to implement a droplet digital polymerase chain reaction (ddPCR) for diagnosis of α(0)-thalassemia SEA-type deletion. Methods: The wild-type α-globin gene allele and α(0)-thalassemia SEA allele were quantified in DNA samples of 20 normal individuals, 15 samples with α(0)-thalassemia SEA trait, and 8 samples with Bart's hydrops fetalis using the ddPCR. The DNA copy number of wild-type α-globin gene allele and α(0)-thalassemia SEA allele was then calculated using the Quantasoft analysis software. Results: The mean ± standard deviation (SD) ratio of wild-type α-globin gene allele and α(0)-thalassemia SEA allele among normal individuals, samples with α(0)-thalassemia SEA trait, and Bart's hydrops fetalis were clearly distinguished with levels of 1.78 ± 0.49, 0.85 ± 0.14, and 0.03 ± 0.03, respectively. Conclusion: The ddPCR may be one alternative technology available for routine clinical diagnosis of α(0)-thalassemia SEA-type deletion and prenatal diagnosis of Bart's hydrops fetalis. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.en_US
dc.subjectMedicineen_US
dc.titleDetection of alpha(0)-thalassemia South-East Asian-type deletion by droplet digital PCRen_US
dc.typeJournalen_US
article.title.sourcetitleEuropean Journal of Haematologyen_US
article.volume92en_US
article.stream.affiliationsChiang Mai Universityen_US
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