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Detection of alpha(0)‐thalassemia South‐East Asian‐type deletion by droplet digital PCR
Author(s) -
Pornprasert Sakorn,
Prasing Watcharee
Publication year - 2014
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/ejh.12246
Subject(s) - hydrops fetalis , allele , prenatal diagnosis , thalassemia , alpha thalassemia , genetics , digital polymerase chain reaction , biology , population , polymerase chain reaction , microbiology and biotechnology , gene , medicine , fetus , genotype , pregnancy , environmental health
Background 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 (dd PCR ) 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 dd PCR . 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 dd PCR 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.