Xing-Yuan Chen

Single-molecule real-time (SMRT) sequencing technology shows advantages in the clinical diagnosis of complex thalassemia

Thalassemia is a hereditary hemolytic anemia caused by pathogenic variants in the α- or β-globin genes, resulting in imbalanced globin chain synthesis. Clinical manifestations vary from asymptomatic carrier states to severe transfusion-dependent anemia. Current routine diagnostic methods in China, gap polymerase ch...