{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:22:53Z","timestamp":1745468573375,"version":"3.40.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"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":[[2022]]},"abstract":"<jats:p>Hereditary spherocytosis (HS) is a congenital disease in which erythrocyte membranes are abnormal, with &lt;i&gt;ANK1&lt;\/i&gt; defects as the main cause. The diagnosis of neonatal HS is difficult due to poor phenotypic specificity. Therefore, a detailed inquiry into family history may be helpful for diagnosis. Here, we describe a familial case of HS caused by a novel mutation in &lt;i&gt;ANK1&lt;\/i&gt;. The proband is a premature infant of Chinese Han ethnicity characterized by progressive aggravation of anemia and jaundice. The disease was caused by a frameshift mutation (c.3392delT\/p.Leu1131Argfs*15) of &lt;i&gt;ANK1&lt;\/i&gt; that was identified by genetic testing. In vitro functional experiments showed that this variant may seriously affect the protein expression and further expanded the mutation spectrum of ANK1-HS. In this case, we emphasize the diagnostic value of early-intervention genetic testing for neonatal hemolytic anemia with a family history. <\/jats:p>","DOI":"10.1159\/000525054","type":"journal-article","created":{"date-parts":[[2022,7,11]],"date-time":"2022-07-11T21:00:31Z","timestamp":1657573231000},"page":"575-581","source":"Crossref","is-referenced-by-count":2,"title":["A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis"],"prefix":"10.1159","volume":"145","author":[{"given":"Jing","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zaifu","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingmin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,7,11]]},"reference":[{"key":"ref1"},{"key":"ref2"},{"key":"ref3"},{"key":"ref4"},{"key":"ref5"},{"key":"ref6"},{"key":"ref7"},{"key":"ref8"},{"key":"ref9"},{"key":"ref10"},{"key":"ref11"},{"key":"ref12"},{"key":"ref13"},{"key":"ref14"},{"key":"ref15"},{"key":"ref16"},{"key":"ref17"},{"key":"ref18"},{"key":"ref19"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525054","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525054","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T14:59:50Z","timestamp":1745420390000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000525054"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"references-count":19,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,11,23]]},"published-print":{"date-parts":[[2022,11,23]]}},"URL":"https:\/\/doi.org\/10.1159\/000525054","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.20281914","asserted-by":"subject"}]},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2022]]}}}