{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:59:18Z","timestamp":1790416758831,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T00:00:00Z","timestamp":1790380800000},"content-version":"vor","delay-in-days":268,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"\n Background<\/jats:title>\n \n Hereditary elliptocytosis (HE) is typically a mild or asymptomatic red blood cell membrane disorder characterized predominantly by elliptocytes, whereas hereditary pyropoikilocytosis (HPP) represents the severe end of the HE spectrum, with early\u2010onset hemolysis, marked poikilocytosis, red cell fragmentation, and pronounced membrane instability. We report a Cambodian girl with a severe HPP\/HE\u2010like phenotype associated with a heterozygous\n SPTA1<\/jats:italic>\n variant of uncertain significance, emphasizing the importance of integrating clinical, hematologic, morphologic, and molecular findings to support accurate diagnostic classification.\n <\/jats:p>\n <\/jats:sec>\n \n Case Presentation<\/jats:title>\n \n A 7\u2010year\u2010old Cambodian girl born to nonconsanguineous parents was referred for evaluation of chronic transfusion\u2010dependent hemolytic anemia that began in the neonatal period. She developed severe jaundice at 1\u2009week of age, requiring intensive phototherapy, and required regular packed red blood cell transfusions from 2\u2009weeks of age. Corticosteroid therapy was initiated when immune\u2010mediated hemolysis was suspected, modestly prolonging the transfusion interval before being discontinued because of Cushingoid features. Physical examination revealed pallor, scleral icterus, and mild splenomegaly. Laboratory evaluation showed severe anemia, markedly elevated red cell distribution width, an inappropriately low reticulocyte count for the degree of anemia, a negative direct antiglobulin test, normal G6PD activity, and red cell morphological abnormalities, including poikilocytes, elliptocytes, and red cell fragments. Phenotype\u2010guided clinical whole\u2010exome sequencing identified a heterozygous\n SPTA1<\/jats:italic>\n c.179G\u2009>\u2009C (p.Arg60Pro) variant of uncertain significance. The clinical presentation and red cell morphology supported classification as a severe HPP\/HE\u2010like red cell membrane phenotype, with the heterozygous\n SPTA1<\/jats:italic>\n variant considered an associated molecular finding rather than evidence of causality.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This case illustrates the diagnostic complexity of severe HPP\/HE\u2010spectrum disease associated with a heterozygous\n SPTA1<\/jats:italic>\n variant. In children with early\u2010onset transfusion\u2010dependent hemolytic anemia and compatible red cell morphology, integrated clinical, hematologic, and molecular assessment, supported by family studies, membrane testing, and broader genomic analysis, may improve diagnostic classification when available.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1155\/crh\/9545062","type":"journal-article","created":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:28:18Z","timestamp":1790414898000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Severe Hereditary Pyropoikilocytosis\/Hereditary Elliptocytosis\u2013Like Phenotype Associated With a Heterozygous\n SPTA1<\/i>\n Variant in a Cambodian Girl: A Case Report"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7949-9976","authenticated-orcid":false,"given":"Kim","family":"Leanghay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1111-6416","authenticated-orcid":false,"given":"Chin","family":"Soey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-0884-4921","authenticated-orcid":false,"given":"Meang","family":"Sovandos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7872-0876","authenticated-orcid":false,"given":"Srey","family":"Viso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-6954-0492","authenticated-orcid":false,"given":"Chean","family":"Soph\u00e2l","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,26]]},"reference":[{"key":"e_1_2_15_1_2","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.01.003"},{"key":"e_1_2_15_2_2","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2005.1.13"},{"key":"e_1_2_15_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.25223"},{"key":"e_1_2_15_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2006.03.005"},{"key":"e_1_2_15_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.16126"},{"key":"e_1_2_15_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2011.09.007"},{"key":"e_1_2_15_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcl.2013.09.001"},{"key":"e_1_2_15_8_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116432"},{"key":"e_1_2_15_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V78.5.1364.1364"},{"key":"e_1_2_15_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.phoj.2025.04.005"},{"key":"e_1_2_15_11_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms242216263"},{"key":"e_1_2_15_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2011.08843.x"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/9545062","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crh\/9545062","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crh\/9545062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:28:19Z","timestamp":1790414899000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crh\/9545062"}},"subtitle":[],"editor":[{"given":"Kalyani","family":"Sen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crh\/9545062"],"URL":"https:\/\/doi.org\/10.1155\/crh\/9545062","archive":["Portico"],"relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"value":"2090-6560","type":"print"},{"value":"2090-6579","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2026-06-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9545062"}}