ArticleWorld journal of pediatrics : WJP2019
Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns.
Article in World journal of pediatrics : WJP, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 7 citations in OpenAlex.
- Philippine Clinical Practice Guidelines for Periodic Health Examination: Screening for Congenital and Developmental Disorders.Acta medica Philippina · 2026Article
- Family trios/quartets analysis based on the Newborn Genomic Atlas for Thalassemia project in Guangxi.BMC medicine · 2025Article
- Development of a low-cost and high-throughput LC-MS method for newborn screening of thalassemia and abnormal hemoglobin disorders.World journal of pediatrics : WJP · 2025Article
- Genotypic spectrum of α-thalassemia and β-thalassemia in newborns of the Li minority in Hainan province, China.Frontiers in pediatrics · 2023Article
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4 authors at 1 institution in 1 country.
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Abstract
backgroundTo 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.
methodsFirstly, 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.
resultsThe 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.
conclusionsGenetic 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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