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Identification of rare α-globin gene variants using third-generation sequencing (TGS). A: A rare CD30(-GAG) (HBA2:c.91_93delGAG) identified in Fujian province. A case with IVS-II-119(-G;+CTCGGCCC) (HBA2:c.301-24delGinsCTCGGCCC) (B) associated with IVS-II-55(T-> G) (HBA2:c.300 + 55T > G) (C) in cis and also compounded with --SEA (D) in trans was identified by TGS. E: --THAI/-α3.7. A case with αααanti3.7 (F) associated with Hb G-Honolulu (HBA2:c.91G > C) (G) in trans was detected by TGS
