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Article

A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.

BMC medical genomics - 12 Aug 2024

Wang Yang, Liu Tao, Jia Chenxi, Xiao Li, Wang Wen, Zhang Yongjie, Xiang Yan, Huang Lan, Yu Jie

Abstract excerpt

BACKGROUND: Hereditary spherocytosis (HS, MIM#612641) is one of the most common hereditary hemolytic disorders. This study aimed to confirm a novel variant's pathogenicity and reveal a patient's genetic etiology. METHODS: The clinical data of a patient with HS who underwent genetic sequencing at the Children's Hospital of Chongqing Medical University were reviewed retrospectively. In silico prediction and in...

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Identifiers

PMID: 39135028
DOI: 10.1186/s12920-024-01973-w
PMCID: PMC11318180

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