{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:13Z","timestamp":1772160073960,"version":"3.50.1"},"reference-count":60,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T00:00:00Z","timestamp":1664150400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary spherocytosis (HS) is a prevalent inherited hemolytic disorder primarily reported in Caucasians. Recently, next\u2010generation sequencing (NGS) techniques have shown tremendous potential in the diagnosis of HS. HS commonly originates from variants in\n                    <jats:italic>ANK1, SPTB, SLC4A1, SPTA1<\/jats:italic>\n                    , and\n                    <jats:italic>EPB42<\/jats:italic>\n                    . This review is focused on 13 previous clinical studies on genotype\u2013phenotype correlation, which might promote the role of causative variants in the diagnosis and prognosis of HS. Most studies have focused on the pediatric population and Asian countries. The occurrence of novel variants was common in each cohort, and variants with a high frequency of causative genes were demonstrated. In conclusion, patients with variants in\n                    <jats:italic>SPTA1<\/jats:italic>\n                    and\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    were reported to have more severe and milder anemia, respectively.\n                    <jats:italic>ANK1<\/jats:italic>\n                    and\n                    <jats:italic>SPTB<\/jats:italic>\n                    are the most common variants in patients with HS, and no significant difference in phenotypes was observed between patients with variants in\n                    <jats:italic>ANK1<\/jats:italic>\n                    versus\n                    <jats:italic>SPTB<\/jats:italic>\n                    . The types and locations of variants might influence the phenotype of each genotype, whereas the roles of concomitant pathogenic genes and the source of variants deserve further investigation.\n                  <\/jats:p>","DOI":"10.1111\/cge.14223","type":"journal-article","created":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T00:09:06Z","timestamp":1662595746000},"page":"474-482","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Literature review on genotype\u2013phenotype correlation in patients with hereditary spherocytosis"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2646-4359","authenticated-orcid":false,"given":"Liqing","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Hematology, West China Hospital Sichuan University  Chengdu Sichuan People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiying","family":"Shu","sequence":"additional","affiliation":[{"name":"Department of Hematology &amp; Oncology, Chengdu Women's and Children's Central Hospital University of Electronic Science and Technology of China  Chengdu Sichuan People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Hematology &amp; Oncology, Chengdu Women's and Children's Central Hospital University of Electronic Science and Technology of China  Chengdu Sichuan People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2437-9348","authenticated-orcid":false,"given":"Yuping","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Hematology, West China Hospital Sichuan University  Chengdu Sichuan People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07091.x"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61588-3"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2005.1.13"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2011.08921.x"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.24034"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2018.07.35"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.052845"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1980.tb07167.x"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14717"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12335"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/cyto.b.21143"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.5045\/br.2022.2021224"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1070-0"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2016-0738"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000495339"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/ejh.13097"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14131"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2020.613559"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2013.04.003"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.12546"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-9796(03)00207-9"},{"issue":"2","key":"e_1_2_11_23_1","first-page":"118","article-title":"Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population","volume":"71","author":"Yawata Y","year":"2000","journal-title":"Int J Hematol"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02981903"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2005.08.008"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M408886200"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05160.x"},{"key":"e_1_2_11_28_1","unstructured":"KalfaTA ConnorJA BegtrupAH.EPB42\u2010related hereditary spherocytosis. 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