{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T00:19:56Z","timestamp":1780705196457,"version":"3.54.1"},"reference-count":62,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T00:00:00Z","timestamp":1738195200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>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 <jats:italic>SPTB<\/jats:italic>, <jats:italic>ANK1<\/jats:italic>, <jats:italic>SLC4A1<\/jats:italic>, <jats:italic>SPTA1<\/jats:italic>, and <jats:italic>EPB42<\/jats:italic>, are commonly implicated in HS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>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 <jats:italic>SPTB<\/jats:italic> gene splicing mutation (NM_001355436.2: c.1645-1G&amp;gt;A), inherited maternally, which is predicted to disrupt normal RNA splicing and protein synthesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The identified <jats:italic>SPTB<\/jats:italic> mutation expands the known mutation spectrum of the <jats:italic>SPTB<\/jats:italic> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2024.1522204","type":"journal-article","created":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T06:21:56Z","timestamp":1738218116000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights"],"prefix":"10.3389","volume":"15","author":[{"given":"Xiaobing","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingqiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuemei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qianqian","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengyin","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongsheng","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junling","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,1,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1111\/ejh.14259","article-title":"The German sickle cell disease registry reveals a surprising risk of acute splenic sequestration and an increased transfusion requirement in patients with compound heterozygous sickle cell disease HbS\/\u03b2-thalassaemia and no or low HbA expression","volume":"113","author":"Allard","year":"2024","journal-title":"Eur. 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