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Published on: November 8, 2015
Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen
Wei Wen1, Meng Guo2, Hong-Bing Peng2
1Neonatal Screening Center, Shenzhen Maternity and Child Healthcare Hospital, Fuqiang Road 3012, Futian District, Shenzhen, 518017, China. wenwei1087@sina.com.
Background:
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.
Methods:
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.
Results:
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.
Conclusions:
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.
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