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

1 Oct 2022

Abstract excerpt

Background: The Hong Kongαα (HKαα) allele is a complex structural rearrangement of the α-globin gene containing -α3.7 and αααanti 4.2 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)...

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PMID: 36388814
DOI: 10.21037/atm-22-4309

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