{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T19:46:16Z","timestamp":1792352776728,"version":"4.4.0"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary spherocytosis is the most common inherited hemolytic anemia characterized by the presence of spherical\u2010shaped erythrocytes on peripheral blood smear. The clinical manifestations of HS are highly variable, from severe forms to asymptomatic forms. HS is caused by defects in red blood cell membrane proteins, encoded by the ANK1, EPB42, SLC4A1, SPTA1 and SPTB genes. Mutation of the ANK 1 gene is the most common and inheritance is autosomal dominant in 75% of cases. In our case, heterozygous an ANK1 c.4123C\u00a0&gt;\u00a0T mutation was identified in a 4\u2010year\u2010old girl, using targeted next\u2010generation sequencing and Sanger sequencing.<\/jats:p>","DOI":"10.1111\/ejh.13311","type":"journal-article","created":{"date-parts":[[2019,8,10]],"date-time":"2019-08-10T09:53:37Z","timestamp":1565430817000},"page":"523-526","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A previously unrecognized <i>Ankyrin\u20101<\/i> mutation associated with Hereditary Spherocytosis in an Italian family"],"prefix":"10.1111","volume":"103","author":[{"given":"Ilaria","family":"Lazzareschi","sequence":"first","affiliation":[{"name":"Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy"},{"name":"Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2430-9876","authenticated-orcid":false,"given":"Antonietta","family":"Curatola","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. 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Gemelli IRCCS Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Gatto","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Attin\u00e0","sequence":"additional","affiliation":[{"name":"Paediatric Oncology Unit Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piero","family":"Valentini","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy"},{"name":"Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. 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