Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights
BackgroundHereditary 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...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2024.1522204/full |
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| author | 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 |
| author_facet | 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 |
| author_sort | Xiaobing Li |
| collection | DOAJ |
| description | BackgroundHereditary 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 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. 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.DiscussionThe 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.ConclusionThis 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. |
| format | Article |
| id | doaj-art-db9e818528f6424fa49d4a3c56e47301 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj-art-db9e818528f6424fa49d4a3c56e473012025-01-31T16:28:02ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011510.3389/fgene.2024.15222041522204Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insightsXiaobing Li0Xiaobing Li1Xiaobing Li2Xiaobing Li3Xiaobing Li4Tingqiang Zhang5Tingqiang Zhang6Tingqiang Zhang7Tingqiang Zhang8Xuemei Li9Li Wang10Li Wang11Li Wang12Li Wang13Qian Li14Qian Li15Qian Li16Qian Li17Qianqian Liu18Qianqian Liu19Qianqian Liu20Qianqian Liu21Chengyin He22Li Zhang23Li Zhang24Li Zhang25Li Zhang26Yongsheng Liu27Yongsheng Liu28Yongsheng Liu29Yongsheng Liu30Junling Tang31Junling Tang32Junling Tang33Junling Tang34Science and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaCollege of Public Health, Chongqing Medical University, Chongqing, ChinaScience and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaNHC Key Laboratory of Diagnosis and Treatment on Brain Functional Diseases, The First Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaScience and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaScience and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaScience and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaScience and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaScience and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaScience and Technology Industry Development Center, Chongqing Medical and Pharmaceutical College, Chongqing, ChinaDepartment of Occupational Disease and Poisoning Medicine, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaLaboratory of Toxicology, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaChongqing Key Laboratory of Prevention and Treatment for Occupational Diseases and Poisoning, The First Affiliated Hospital of Chongqing Medical and Pharmaceutical College, Chongqing, ChinaBackgroundHereditary 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 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. 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.DiscussionThe 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.ConclusionThis 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.https://www.frontiersin.org/articles/10.3389/fgene.2024.1522204/fullhereditary spherocytosisnovel SPTB genemutationhemolytic anemiasplenomegalyjaundice |
| spellingShingle | 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 Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights Frontiers in Genetics hereditary spherocytosis novel SPTB gene mutation hemolytic anemia splenomegaly jaundice |
| title | Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights |
| title_full | Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights |
| title_fullStr | Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights |
| title_full_unstemmed | Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights |
| title_short | Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights |
| title_sort | identification of a novel sptb gene splicing mutation in hereditary spherocytosis a case report and diagnostic insights |
| topic | hereditary spherocytosis novel SPTB gene mutation hemolytic anemia splenomegaly jaundice |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2024.1522204/full |
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