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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 newb 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 newbs 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 newbs.Newb genetic screening is important for establishing a comprehensive thalassemia prevention program and for public education.