{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:37:38Z","timestamp":1760243858577,"version":"build-2065373602"},"reference-count":10,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T00:00:00Z","timestamp":1665187200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hematology Reports"],"abstract":"<jats:p>Hereditary pyropoikilocytosis (HPP) is characterised by severe hemolytic anemia due to membrane instability. We report the case of a 13-day-old boy with neonatal jaundice and severe hemolytic anemia. A peripheral smear examination showed severe anisopoikylocytosis. DNA sequencing revealed compound double heterozygous for mutant \u03b1-spectrin SPTA1 (Arg28His) and homozygous \u03b1LELY polymorphism (low expression \u03b1-spectrin allele), compatible with diagnosis of HPP.The patient required a blood transfusion initially, but spontaneously improved after two years. Our case illustrates that, despite the presence of the allele \u03b1LELY in homozygous, the clinical phenotype is similar to cases with a mutation in SPTA1 associated with \u03b1LELY in trans.<\/jats:p>","DOI":"10.3390\/hematolrep14040043","type":"journal-article","created":{"date-parts":[[2022,10,12]],"date-time":"2022-10-12T05:31:18Z","timestamp":1665552678000},"page":"300-304","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: \u03b1-Spectrin Mutation Associated with \u03b1LELY Polymorphism Responsible for Hereditary Pyropoikilocytosis"],"prefix":"10.3390","volume":"14","author":[{"given":"Mar\u00eda","family":"S\u00e1nchez Villalobos","sequence":"first","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo","family":"Salido Fi\u00e9rrez","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria (IMIB)-Arrixaca, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Mart\u00ednez Nieto","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00aa Carmen","family":"Garc\u00eda Garay","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asunci\u00f3n","family":"Beltr\u00e1n Videla","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2596-0871","authenticated-orcid":false,"given":"Ana Belen","family":"P\u00e9rez Oliva","sequence":"additional","affiliation":[{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria (IMIB)-Arrixaca, 30120 Murcia, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1471-8828","authenticated-orcid":false,"given":"Miguel","family":"Blanquer Blanquer","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria (IMIB)-Arrixaca, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Mar\u00eda","family":"Moraleda Jim\u00e9nez","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain"},{"name":"Instituto Murciano de Investigaci\u00f3n Biosanitaria (IMIB)-Arrixaca, 30120 Murcia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5712","DOI":"10.1182\/blood-2007-11-122457","article-title":"Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site","volume":"111","author":"Gaetani","year":"2008","journal-title":"Blood"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1097\/MPH.0b013e3180320b6f","article-title":"Hereditary pyropoikilocytosis: A rare but potentially severe form of congenital hemolytic anemia","volume":"29","author":"Ramos","year":"2007","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_3","unstructured":"(2021, July 17). Online Mendelian Inheritance in Man. OMIM. Johns Hopkins University. Available online: https:\/\/www.omim.org\/entry\/182860."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1111\/j.1365-2141.1975.tb02740.x","article-title":"A congenital haemolytic anaemia with thermal sensitivity of the erythrocyte membrane","volume":"29","author":"Zarkowsky","year":"1975","journal-title":"Br. J. Haemat."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1111\/ijlh.12070","article-title":"Hereditary red cell membrane disorders and laboratory diagnostic testing","volume":"35","author":"King","year":"2013","journal-title":"Int. J. Lab. 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Hematol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1182\/blood.V75.8.1691.1691","article-title":"Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I\/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain","volume":"75","author":"Garbarz","year":"1990","journal-title":"Blood"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1111\/j.1365-2141.1991.tb04391.x","article-title":"Occurrence of the alpha-I 22 arg-to-his (CGT-to-CAT) spectrin mutation in Tunisia: Potential association with severe elliptopoikilocytosis","volume":"78","author":"Baklouti","year":"1991","journal-title":"Br. J. Haemat."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.bcmd.2016.07.003","article-title":"Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis","volume":"61","author":"Niss","year":"2016","journal-title":"Blood Cells Mol. 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