Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort.

Abstract excerpt

α-thalassemia is an inherited monogenic disorder that exhibits a notably high prevalence in the Guangxi region of China. Subjects in this study were recruited from the Second Affiliated Hospital of Guangxi Medical University between October 2021 and December 2024. Hematological phenotypes were evaluated, followed by structural variations profiling using SMRT sequencing. Novel structural variants were validated...

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