Analysis of rare thalassemia genetic variants based on third generation sequencing

Thalassemia is a group of common hereditary anemia that cause significant morbidity and mortality around the world, yet precisely diagnosing of thalassemia especially for rare thalassemia variants are still challenging. Long range PCR and long-molecule sequencing on the PacBio Sequel II platform utilized in this study could cover the entire HBA1, HBA2 and HBB gene which enable to diagnose most of common and rare types of thalassemia variants. Here, third generation sequencing was performed on 10 subjects for thalassemia diagnostics.