{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T21:55:38Z","timestamp":1781646938865,"version":"3.54.5"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"The self funded research project of the Health Commission of the Autonomous Region","award":["Z-B20241254"],"award-info":[{"award-number":["Z-B20241254"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary spherocytosis (HS) is characterized primarily by jaundice, anemia, splenomegaly (enlarged spleen), increased numbers of spherocytes in peripheral blood, and elevated erythrocyte osmotic fragility. However, these manifestations are nonspecific, resulting in misdiagnosis or underdiagnosis. Here, we report three Chinese patients with a family history of HS. Case 1 was an infant who presented with jaundice and anemia during the neonatal period, without splenomegaly; case 2 was a woman with hepatitis C and mild anemia; and case 3 was a child with no obvious clinical symptoms. Genetic testing revealed a heterozygous\n                    <jats:italic>ANK1<\/jats:italic>\n                    c.4429\u00a0C\u2009&gt;\u2009T (p.Arg1477*) de novo mutation in case 1, a heterozygous\n                    <jats:italic>ANK1<\/jats:italic>\n                    c.1025_1028dup (p.Val344Profs*13) de novo mutation in case 2, and a heterozygous\n                    <jats:italic>SPTB<\/jats:italic>\n                    c.5898\u00a0C\u2009&gt;\u2009T (p.Gly1966 =) de novo variant in case 3. Interestingly, to the best of our knowledge, the\n                    <jats:italic>ANK1<\/jats:italic>\n                    c.4429\u00a0C\u2009&gt;\u2009T (p.Arg1477*) and c.1025_1028dup (p.Val344Profs*13) de novo mutations have not been previously reported in public mutation databases, extending the mutation spectrum of ANK1. Overall, HS should be considered in patients with unexplained jaundice or anemia, even in those without a family history. Clinicians should conduct genetic testing to establish a definitive diagnosis, guide treatment modalities, and provide genetic counseling to patients.\n                  <\/jats:p>","DOI":"10.1007\/s00277-026-06958-6","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T05:46:24Z","timestamp":1775022384000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["De novo mutations in ANK1 and SPTB cause hereditary spherocytosis: three case reports and literature review"],"prefix":"10.1007","volume":"105","author":[{"given":"Yumei","family":"Qin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liuting","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanming","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shifu","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaojie","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,1]]},"reference":[{"issue":"9647","key":"6958_CR1","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1016\/S0140-6736(08)61588-3","volume":"372","author":"S Perrotta","year":"2008","unstructured":"Perrotta S, Gallagher PG, Mohandas N (2008) Hereditary spherocytosis [J]. Lancet 372(9647):1411\u20131426","journal-title":"Lancet"},{"issue":"12","key":"6958_CR2","doi-asserted-by":"publisher","first-page":"e24034","DOI":"10.1002\/jcla.24034","volume":"35","author":"Y Wu","year":"2021","unstructured":"Wu Y, Liao L, Lin F (2021) The diagnostic protocol for hereditary spherocytosis-2021 update [J]. J Clin Lab Anal 35(12):e24034","journal-title":"J Clin Lab Anal"},{"issue":"1","key":"6958_CR3","doi-asserted-by":"publisher","first-page":"166595","DOI":"10.1016\/j.bbadis.2022.166595","volume":"1869","author":"L Xu","year":"2023","unstructured":"Xu L, Wei X, Liang G et al (2023) A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family [J]. Biochim Biophys Acta Mol Basis Dis 1869(1):166595","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"6958_CR4","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1007\/978-90-481-9485-8_22","volume":"686","author":"B Gulbis","year":"2010","unstructured":"Gulbis B, Eleftheriou A, Angastiniotis M et al (2010) Epidemiology of rare anaemias in Europe [J]. Adv Exp Med Biol 686:375\u2013396","journal-title":"Adv Exp Med Biol"},{"issue":"2","key":"6958_CR5","doi-asserted-by":"publisher","first-page":"76","DOI":"10.5582\/irdr.2015.01002","volume":"4","author":"C Wang","year":"2015","unstructured":"Wang C, Cui Y, Li Y et al (2015) A systematic review of hereditary spherocytosis reported in Chinese biomedical journals from 1978 to 2013 and estimation of the prevalence of the disease using a disease model [J]. Intractable Rare Dis Res 4(2):76\u201381","journal-title":"Intractable Rare Dis Res"},{"issue":"9","key":"6958_CR6","doi-asserted-by":"publisher","first-page":"1549","DOI":"10.3390\/diagnostics11091549","volume":"11","author":"V Cortesi","year":"2021","unstructured":"Cortesi V, Manzoni F, Raffaeli G et al (2021) Severe presentation of congenital hemolytic anemias in the neonatal age: Diagnostic and therapeutic issues [J]. Diagnostics 11(9):1549","journal-title":"Diagnostics"},{"key":"6958_CR7","doi-asserted-by":"publisher","first-page":"823724","DOI":"10.3389\/fmed.2022.823724","volume":"9","author":"X Yang","year":"2022","unstructured":"Yang X, Wang W, Fan W et al (2022) Hereditary spherocytosis with liver transplantation after cirrhosis: A case report [J]. 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Clin Chem Lab Med 55(7):944\u2013948","journal-title":"Clin Chem Lab Med"},{"issue":"1","key":"6958_CR10","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1186\/s13052-025-02049-w","volume":"51","author":"C Coramusi","year":"2025","unstructured":"Coramusi C, Lucangeli N, Vadal\u00e0 S et al (2025) Neonatal hereditary spherocytosis: a case report [J]. Ital J Pediatr 51(1):193","journal-title":"Ital J Pediatr"},{"key":"6958_CR11","doi-asserted-by":"publisher","first-page":"1523288","DOI":"10.3389\/fped.2025.1523288","volume":"13","author":"J Cheng","year":"2025","unstructured":"Cheng J, Zhang L, Yao J et al (2025) Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants [J]. 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Approval was granted by the Ethics Committee of Liuzhou People's Hospital Affiliated with Guangxi Medical University (No: KY 2024-004-01). Informed consent was obtained from the patient or their legal guardian for publication of this case report and any accompanying images.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"219"}}