Quanzhou Women's and Children's Hospital Researchers Add New Study Findings to Research in Sequencing Technology (Application of third-generation sequencing technology for identifying rare a- and b-globin gene variants in a Southeast Chinese...).

Researchers at Quanzhou Women's and Children's Hospital in Southeast China utilized third-generation sequencing technology to identify rare a- and b-globin gene variants in individuals with thalassemia traits. The study included 6,174 subjects, with 38.71% identified as carriers of a- and b-globin gene mutations, including rare mutations previously unreported in the Chinese population. The findings contribute valuable data to the understanding of thalassemia and highlight the clinical significance of third-generation sequencing technology in genetic testing. [Extracted from the article]