Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns

• Published in: World journal of pediatrics : WJP Vol. 15; no. 6; pp. 610 - 614
• Main Authors: Wen, Wei, Guo, Meng, Peng, Hong-bing, Ma, Li
• Format: Journal Article
• Language: English
• Published: Singapore Springer Singapore 01.12.2019; Neonatal Screening Center,Shenzhen Maternity and Child Healthcare Hospital,Fuqiang Road 3012,Futian District,Shenzhen 518017,China
• Subjects: Brief Report; Critical Care Medicine; Imaging; Intensive; Maternal and Child Health; Medicine; Medicine & Public Health; Pediatric Surgery; Pediatrics; Radiology; Surgery; Newborn screening; Thalassemia; Dried blood spot; Genetic screening
• ISSN: 1708-8569; 1867-0687
• DOI: 10.1007/s12519-018-00222-2

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.