{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T10:17:08Z","timestamp":1787825828231,"version":"build-2784847793"},"reference-count":51,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,3,15]],"date-time":"2016-03-15T00:00:00Z","timestamp":1458000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Korea Health technology R&D Project"},{"name":"Ministry of Health & Welfare"},{"name":"Republic of Korea","award":["A120175"],"award-info":[{"award-number":["A120175"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,7]]},"abstract":"The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS<\/jats:styled-content>) patients. Relevant literatures including genetically confirmed cases with well\u2010documented clinical summaries and relevant information were also reviewed to investigate the mutational gene\u2010 or domain\u2010specific laboratory and clinical association. Twenty\u2010five HS<\/jats:styled-content> patients carried one heterozygous mutation of ANK1<\/jats:styled-content><\/jats:italic> (n<\/jats:italic> = 13) or SPTB<\/jats:styled-content><\/jats:italic> (n<\/jats:italic> = 12) but not in SPTA1<\/jats:styled-content><\/jats:italic>, SLC4A1<\/jats:styled-content><\/jats:italic>, or EPB42<\/jats:styled-content><\/jats:italic>. Deleterious mutations including frameshift, nonsense, and splice site mutations were identified in 91% (21\/23), and non\u2010hotspot mutations were dispersed across multiple exons. Genotype\u2013phenotype correlation was clarified after combined analysis of the cases and the literature review; anemia was most severe in HS<\/jats:styled-content> patients with mutations on the ANK1<\/jats:styled-content><\/jats:italic> spectrin\u2010binding domain (p < 0.05), and SPTB<\/jats:styled-content><\/jats:italic> mutations in HS<\/jats:styled-content> patients spared the tetramerization domain in which mutations of hereditary elliptocytosis and pyropoikilocytosis are located. Splenectomy (17\/75) was more frequent in ANK1<\/jats:styled-content><\/jats:italic> mutant HS<\/jats:styled-content> (32%) than in HS<\/jats:styled-content> with SPTB<\/jats:styled-content><\/jats:italic> mutation (10%) (p = 0.028). Aplastic crisis occurred in 32.0% of the patients (8\/25; 3 ANK1<\/jats:styled-content><\/jats:italic> and 5 SPTB<\/jats:styled-content><\/jats:italic>), and parvovirus B19<\/jats:styled-content> was detected in 88%. The study clarifies ANK1<\/jats:styled-content><\/jats:italic> or SPTB<\/jats:styled-content><\/jats:italic> mutational characteristics in HS<\/jats:styled-content> Korean patients. The genetic association of laboratory and clinical aspects suggests comprehensive considerations for genetic\u2010based management of HS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12749","type":"journal-article","created":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T08:12:47Z","timestamp":1454314367000},"page":"69-78","source":"Crossref","is-referenced-by-count":85,"title":["Mutational characteristics of ANK1<\/scp><\/i> and SPTB<\/scp><\/i> genes in hereditary spherocytosis"],"prefix":"10.1111","volume":"90","author":[{"given":"J.","family":"Park","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, College of Medicine The Catholic University of Korea Seoul Republic of Korea"},{"name":"Catholic Genetic Laboratory Center, Seoul St. Mary's Hospital, College of Medicine The Catholic University of Korea Seoul Republic of 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