title: Detection of alpha(0)-thalassemia South-East Asian-type deletion by droplet digital PCR.
abstract: 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 (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.
  
  
  CONCLUSIONS
  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.
authors: Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand.
authors: Sakorn
authors: S
authors: Pornprasert
authors: Watcharee
authors: W
authors: Prasing
mesh_terms: D000483:Alleles; D004247:DNA / Q000032:analysis; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D060888:Real-Time Polymerase Chain Reaction; D012984:Software; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D004247:DNA
keywords: Bart's hydrops fetalis; droplet digital polymerase chain reaction; prenatal diagnosis; real-time polymerase chain reaction; α(0)-thalassemia South-East Asian-type deletion