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    Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights by Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Xuemei Li, Li Wang, Li Wang, Li Wang, Li Wang, Qian Li, Qian Li, Qian Li, Qian Li, Qianqian Liu, Qianqian Liu, Qianqian Liu, Qianqian Liu, Chengyin He, Li Zhang, Li Zhang, Li Zhang, Li Zhang, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Junling Tang, Junling Tang, Junling Tang, Junling Tang

    Published 2025-01-01
    “…Mutations in key genes, including SPTB, ANK1, SLC4A1, SPTA1, and EPB42, are commonly implicated in HS.Case PresentationWe report the case of a 22-year-old female presenting with anemia, jaundice, and a family history of splenectomy. Laboratory investigations revealed hemolytic anemia, elevated bilirubin levels, and peripheral blood smear findings consistent with HS. …”
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