{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T11:19:20Z","timestamp":1764587960524,"version":"3.41.2"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,11,4]],"date-time":"2018-11-04T00:00:00Z","timestamp":1541289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["1UL1TR001425\u201001"],"award-info":[{"award-number":["1UL1TR001425\u201001"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The broad phenotypic variability among individuals with sickle cell disease (SCD) suggests the presence of modifying factors. We identified two unrelated SCD patients with unusually severe clinical and laboratory phenotype that were found to carry the hereditary elliptocytosis\u2010associated alpha\u2010spectrin mutation c.460_462dupTTG (p.L155dup), a mutation enriched due to positive selective pressure of malaria, similar to the SCD globin mutations. A high index of suspicion for additional hematologic abnormalities may be indicated for challenging patients with SCD. These cases highlight the validity of specialized testing such as ektacytometry and next\u2010generation sequencing for patients and family members to assess genotype\/phenotype correlations.<\/jats:p>","DOI":"10.1002\/pbc.27531","type":"journal-article","created":{"date-parts":[[2018,11,5]],"date-time":"2018-11-05T05:48:46Z","timestamp":1541396926000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Hereditary elliptocytosis\u2010associated alpha\u2010spectrin mutation p.L155dup as a modifier of sickle cell disease severity"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5917-2267","authenticated-orcid":false,"given":"Mary","family":"Risinger","sequence":"first","affiliation":[{"name":"College of Nursing University of Cincinnati  Cincinnati Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios E.","family":"Christakopoulos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Minnesota Minneapolis  Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7620-1819","authenticated-orcid":false,"given":"Corinna L.","family":"Schultz","sequence":"additional","affiliation":[{"name":"Nemours Center for Cancer and Blood Disorders Nemours\/Alfred I. duPont Hospital for Children  Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick T.","family":"McGann","sequence":"additional","affiliation":[{"name":"Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Center  Cincinnati Ohio"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio"},{"name":"Laboratory of Genetics and Genomics Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0426-9686","authenticated-orcid":false,"given":"Theodosia A.","family":"Kalfa","sequence":"additional","affiliation":[{"name":"Cancer and Blood Diseases Institute Cincinnati Children's Hospital Medical Center  Cincinnati Ohio"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,11,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2010.02.006"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-07-441188"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.01.003"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-12-512772"},{"key":"e_1_2_7_6_1","doi-asserted-by":"crossref","first-page":"2196","DOI":"10.1182\/blood.V73.8.2196.2196","article-title":"Molecular basis of Sp alpha I\/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha\u2010spectrin gene from five unrelated families","volume":"73","author":"Roux AF","year":"1989","journal-title":"Blood"},{"issue":"1","key":"e_1_2_7_7_1","first-page":"615","article-title":"Personalized hydroxyurea dosing to 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