Sci Rep 2022 Jun 14;12(1):9907. Epub 2022 Jun 14.
Center of Prenatal Diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.
Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is 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 genes, enabling the diagnosis of most of the common and rare types of thalassemia variants. Read More