[Application of Next Generation Sequencing to Screen the Neonatal Thalassemia Genes].

Objective: To explore the feasibility of using next-generation sequencing technology (NGS) to screen the neonatal thalassemia genes.

Methods: Plantar blood of 206 cases of neonatal born in our hospital were randomly collected to be made into dried blood, which can be screened for thalassemia genes by next-generation sequencing, and then a further analysis would be performed on the basis on the detection results.

Results: In 206 cases of neonates tested, the thalassemia gene mutations in 22 cases were screened, including 11 cases of alpha-thalassemia, 11 cases of beta-thalassemia, 5 cases of new mutations.