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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1522204

Ar ticle Type: Case Repor t Identification of a Novel SPTB Gene Splicing Mutation in Her editar y Spher ocytosis: A Case Repor t and Diagnostic Insights

Provisionally accepted
Yongsheng Liu Yongsheng Liu *Tingqiang Zhang Tingqiang Zhang Xiaobing Li Xiaobing Li Li Zhang Li Zhang Li Wang Li Wang Qian Li Qian Li Qianqian Liu Qianqian Liu Xuemei Li Xuemei Li Chengyin He Chengyin He Junling Tang Junling Tang
  • Chongqing Medical and Pharmaceutical College, Chongqing, China

The final, formatted version of the article will be published soon.

    Abstr act: [Backgr ound] Hereditary spherocytosis (HS) is a group of genetically heterogeneous hereditary hemolytic disorders characterized by anemia, splenomegaly, jaundice, reticulocytosis, and spherical red blood cells on peripheral blood smears.Mutations in key genes, including SPTB, ANK1, SLC4A1, SPTA1, and EPB42, are commonly implicated in HS. [Case Pr esentation] we 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. Genetic testing identified a novel SPTB gene splicing mutation (NM_001355436.2: c.1645-1G>A), inherited maternally, which is predicted to disrupt normal RNA splicing and protein synthesis. [Discussion] the identified SPTB mutation expands the known mutation spectrum of the SPTB gene and highlights its role in the pathogenesis of HS. Clinical findings, combined with genetic analysis, confirmed the diagnosis of HS and underscored the importance of comprehensive molecular testing for accurate diagnosis, especially in patients with a strong family history. [Conclusion] this case emphasizes the utility of genetic testing in diagnosing hereditary spherocytosis, particularly for novel gene mutations. Early and accurate molecular diagnosis facilitates better clinical management, family counseling, and treatment decisions for patients with HS.

    Keywords: Hereditary spherocytosis, novel SPTB gene, Mutation, hemolytic anemia, Splenomegaly, Jaundice

    Received: 25 Nov 2024; Accepted: 31 Dec 2024.

    Copyright: © 2024 Liu, Zhang, Li, Zhang, Wang, Li, Liu, Li, He and Tang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Yongsheng Liu, Chongqing Medical and Pharmaceutical College, Chongqing, China

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