{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T03:12:34Z","timestamp":1782875554911,"version":"3.54.5"},"reference-count":33,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2018]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1<i><\/i> (<i>ANK1<\/i>)<i><\/i> mutations is the most common type. We explored an <i>ANK1<\/i> mutation from an HS patient and reviewed the literature. <b><i>Methods:<\/i><\/b> We detected the mutation in a Chinese family in which 2 members were diagnosed with HS by next-generation sequencing. The proband was diagnosed with HS in the newborn period, based on clinical manifestations, laboratory data, and family history. The mutation spectrum of the <i>ANK1<\/i> gene was summarized based on 85 patients diagnosed with HS carrying <i>ANK1<\/i> mutations, and the <i>ANK1<\/i> mutation spectrum was summarized and analyzed. <b><i>Results:<\/i><\/b> We identified a novel mutation affecting <i>ANK1<\/i> gene splicing (a splicing mutation) in both the patient and her mother, which is a substitution of T&#x3e;G 2 nt after exon 25 in intron 26. The study expands our knowledge of the <i>ANK1<\/i> gene mutation spectrum, providing a molecular basis for HS. <b><i>Conclusion:<\/i><\/b> A novel <i>ANK1<\/i> mutation (NM_000037.3, c.2960+2T&#x3e;G, intron 26) that is potentially associated with HS was identified. To date, 80 <i>ANK1<\/i> mutations have been reported to be associated with HS in humans.<\/jats:p>","DOI":"10.1159\/000492024","type":"journal-article","created":{"date-parts":[[2018,9,18]],"date-time":"2018-09-18T21:01:29Z","timestamp":1537304489000},"page":"77-86","source":"Crossref","is-referenced-by-count":6,"title":["Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the 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