{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T21:13:00Z","timestamp":1783977180815,"version":"3.55.0"},"reference-count":19,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:00:00Z","timestamp":1778630400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T00:00:00Z","timestamp":1783382400000},"content-version":"vor","delay-in-days":55,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ann Hematol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    To characterize the clinical and genetic profiles of patients with hereditary spherocytosis (HS) and report novel mutations. This retrospective study included 55 patients (25 males, 30 females; median age 9 years) with HS admitted between 2016 and 2023. Clinical and laboratory data were analyzed. Targeted next-generation sequencing was performed to detect pathogenic mutations. Comparisons were made using Student\u2019s\n                    <jats:italic>t<\/jats:italic>\n                    -test or Mann-Whitney\n                    <jats:italic>U<\/jats:italic>\n                    test. Anemia was present in 53 patients, including 31 with moderate-to-severe anemia; 40 exhibited splenomegaly or gallstones. A total of 60 variants were identified, of which 46 (76.7%) were novel. The most frequently involved genes were\n                    <jats:italic>ANK1<\/jats:italic>\n                    (28, 50.9%),\n                    <jats:italic>SPTB<\/jats:italic>\n                    (17, 30.9%),\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    (10, 18.2%), and\n                    <jats:italic>SPTA1<\/jats:italic>\n                    (2, 3.6%). Patients aged\u2009\u2264\u20093 years (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200923) showed significantly lower red blood cell counts, hemoglobin levels, and absolute reticulocyte counts than those aged\u2009&gt;\u20093 years (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200932) (all\n                    <jats:italic>P<\/jats:italic>\n                    \u2009&lt;\u20090.05), whereas no significant phenotypic differences were observed across mutation types. Younger patients with HS exhibited more severe anemia.\n                    <jats:italic>ANK1<\/jats:italic>\n                    and\n                    <jats:italic>SPTB<\/jats:italic>\n                    were the predominant pathogenic genes, with no notable phenotypic differences between these two genotypes. The identification of 46 novel mutations expands the mutational spectrum of HS.\n                  <\/jats:p>","DOI":"10.1007\/s00277-026-07066-1","type":"journal-article","created":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:16:48Z","timestamp":1778642208000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the genetic spectrum of hereditary spherocytosis: novel mutations and phenotypic heterogeneity from a 55-patient cohort"],"prefix":"10.1007","volume":"105","author":[{"given":"Huiying","family":"Shu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liqing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuexue","family":"Yun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuping","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,5,13]]},"reference":[{"issue":"9647","key":"7066_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. 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