Accurate genotype diagnosis of Hong Kongαα thalassemia based on third-generation sequencing.

Background: The Hong Kongαα (HKαα) allele is a complex structural rearrangement of the α-globin gene containing -α and ααα crossover junctions. Clinically, individuals carrying the HKαα allele are often misdiagnosed or missed using conventional thalassemia gene detection technology. This study aims to identify and validate different HKαα thalassemia subtypes using third-generation sequencing (TGS) technology.