{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T09:57:42Z","timestamp":1792749462471,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,5,20]],"date-time":"2020-05-20T00:00:00Z","timestamp":1589932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006126","name":"Hospital for Sick Children","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006126","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell membrane proteins. We performed a retrospective study of 166 children with HS and describe the clinical phenotype according to the genotype. In 160\/166 (97%) children with HS a disease\u2010causing mutation was identified. Pathogenic variants in\n                    <jats:italic>ANK1<\/jats:italic>\n                    ,\n                    <jats:italic>SPTB<\/jats:italic>\n                    ,\n                    <jats:italic>SLC4A1 and<\/jats:italic>\n                    <jats:italic>SPTA1<\/jats:italic>\n                    were found in 49%, 33%, 13% and 5% of patients. Children with\n                    <jats:italic>SLC4A1<\/jats:italic>\n                    \u2010HS had the mildest phenotype, showing the highest haemoglobin (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0&lt;\u00a00\u00b7001), lowest reticulocyte counts (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0&lt;\u00a00\u00b7001) and lowest unconjugated bilirubin levels (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00\u00b7006), and none required splenectomy in childhood (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0&lt;\u00a00\u00b7001). Conversely, children with autosomal recessive\n                    <jats:italic>SPTA1<\/jats:italic>\n                    \u2010HS had the most severe clinical phenotype, with almost all patients undergoing splenectomy in early childhood. Patients with\n                    <jats:italic>ANK1<\/jats:italic>\n                    and\n                    <jats:italic>SPTB<\/jats:italic>\n                    variants showed a similar clinical phenotype. Within each gene, variant type or location did not predict disease severity or likelihood of splenectomy. Among patients\u00a0with a genetic diagnosis, 47 (29%) underwent splenectomy (23 partial; 24 total) while 57 (36%) underwent cholecystectomy. Total splenectomy led to greater improvements in haemoglobin (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0=\u00a00\u00b702). Select use of genetic testing (especially in patients without a family history) may help predict clinical phenotype in childhood and guide family counselling.\n                  <\/jats:p>","DOI":"10.1111\/bjh.16750","type":"journal-article","created":{"date-parts":[[2020,5,21]],"date-time":"2020-05-21T01:25:22Z","timestamp":1590024322000},"page":"486-496","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":84,"title":["Genotype\u2013phenotype correlation in children with hereditary spherocytosis"],"prefix":"10.1111","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5804-3116","authenticated-orcid":false,"given":"Soumitra","family":"Tole","sequence":"first","affiliation":[{"name":"Department of Paediatrics Division of Haematology\/Oncology Hospital for Sick Children Toronto Ontario Canada"},{"name":"Department of Paediatrics Division of Haematology\/Oncology Children's Hospital London Health Sciences Centre London Ontario Canada"},{"name":"Western University London Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya","family":"Dhir","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Pugi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Division of Haematology\/Oncology Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke J.","family":"Drury","sequence":"additional","affiliation":[{"name":"PreventionGenetics Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Butchart","sequence":"additional","affiliation":[{"name":"Department of Nursing Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Fantauzzi","sequence":"additional","affiliation":[{"name":"Department of Nursing Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob C.","family":"Langer","sequence":"additional","affiliation":[{"name":"Department of Surgery Hospital for Sick Children and Department of Surgery University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian M.","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Division of Haematology\/Oncology Hospital for Sick Children Toronto Ontario Canada"},{"name":"Faculty of Medicine University of Toronto Toronto Ontario Canada"},{"name":"Department of Pediatrics St. Michael's Hospital Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor S.","family":"Blanchette","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Division of Haematology\/Oncology Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Kirby\u2010Allen","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Division of Haematology\/Oncology Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel D.","family":"Carcao","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Division of Haematology\/Oncology Hospital for Sick Children Toronto Ontario Canada"},{"name":"Child Health Evaluative Sciences, Research Institute Hospital for Sick Children Toronto Ontario 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