Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns
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To optimize and apply an approach suitable for large-scale neonatal thalassemia genetic screening in China, thalassemia genotypes were determined by polymerase chain reaction-reverse dot blot using DNA extracted from dried blood spots (DBS) obtained from newborn screening programs.
Firstly, the most suitable commercial DNA extraction kit for DBS was screened. Then, the appropriate amount of DBS required for the automated high-throughput DNA extraction system was evaluated. Finally, the thalassemia prevalence and genotype spectrum in Shenzhen were investigated in 2028 newborns using the optimized screening procedure.
The Magentec extraction kit was best suited for the automated DBS DNA extraction system using eight 3-mm DBS discs. The neonatal thalassemia prevalence in Shenzhen was 9.12%; 6.31% α-thalassemia, 2.37% β-thalassemia, and 0.44% α-/β-thalassemia.
Genetic screening based on DBS can precisely identify the thalassemia genotypes. Both α- and β-thalassemia are widely distributed in Shenzhen newborns. Newborn genetic screening is important for establishing a comprehensive thalassemia prevention program and for public education.
KeywordsDried blood spot Genetic screening Newborn screening Thalassemia
WW and MG designed the experiment, collected and analyzed the data, and wrote the manuscript. HBP and LM collected and analyzed the data. All authors have read and approved the final version of the manuscript.
Compliance with ethical standards
The study conducted in the Maternal and Child Health Hospital and was approved by the Medical Ethics Committee of the Maternal and Child Health Hospital of Shenzhen, Guangdong province, China.
Conflict of interest
None financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.
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