{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T18:43:20Z","timestamp":1776105800598,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>Sickle cell disease (SCD) is caused by a mutation in the sixth codon of the <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:mi>\u03b2<\/mml:mi><\/mml:mrow><\/mml:math>-globin gene on chromosome 11, which leads to a single amino acid substitution (glutamine to valine). Sickle-(<jats:italic>\u03b4\u03b2<\/jats:italic>)<jats:sup>0<\/jats:sup>-thalassemia is a rare variant of sickle cell disease (delta-beta thalassemia occurring in association with sickle hemoglobin, HbS), sparsely reported in literature, and has been associated with symptomatology necessitating careful monitoring and follow-up. We describe a patient who presented with a newborn screen reported as \u201cFS\u201d and a negative family history for sickle cell disease and sickle cell trait. Subsequent gene sequencing studies demonstrated the presence of Sickle-(<jats:italic>\u03b4\u03b2<\/jats:italic>)<jats:sup>0<\/jats:sup>-thalassemia. Clinical course has remained relatively stable for this patient now at 18 months of age without any SCD related symptomatology or complications. As this is a rare variant of SCD with potential complications, it is important to establish diagnosis towards planning comprehensive care.<\/jats:p>","DOI":"10.1155\/2017\/9265396","type":"journal-article","created":{"date-parts":[[2017,9,17]],"date-time":"2017-09-17T17:01:32Z","timestamp":1505667692000},"page":"1-3","source":"Crossref","is-referenced-by-count":5,"title":["HbS-Sicilian (<i>\u03b4\u03b2<\/i>)<sup>0<\/sup>-Thalassemia: A Rare Variant of Sickle Cell"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1673-4151","authenticated-orcid":true,"given":"Grace","family":"Onimoe","sequence":"first","affiliation":[{"name":"Cleveland Clinic Lerner College of Medicine (CCLCM), Case Western University, 9500 Euclid Avenue, Cleveland, OH 44195, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genine","family":"Smarzo","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Lerner College of Medicine (CCLCM), Case Western University, 9500 Euclid Avenue, Cleveland, OH 44195, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2004-06-2404"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)61029-X"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/S0268-960X(03)00003-1"},{"issue":"2","key":"4","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/j.1365-2141.1985.tb02999.x","volume":"59","year":"1985","journal-title":"British Journal of Haematology"},{"key":"5","year":"2017","journal-title":"Pediatr Blood Cancer"},{"key":"6","year":"2006"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.5045\/br.2016.51.3.213"},{"issue":"1","key":"8","first-page":"222","volume":"3","year":"2013","journal-title":"Iranian Journal of Pediatric Hematology and Oncology"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1590\/S0100-879X2002000800003"},{"issue":"1","key":"10","first-page":"127","volume":"58","year":"1981","journal-title":"Obstetrics and Gynecology"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1969.tb27778.x"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.5958\/j.2321-1032.2.1.040"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830030101"},{"key":"14","year":"2008"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2017\/9265396.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2017\/9265396.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2017\/9265396.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,9,17]],"date-time":"2017-09-17T17:01:35Z","timestamp":1505667695000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crihem\/2017\/9265396\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":14,"alternative-id":["9265396","9265396"],"URL":"https:\/\/doi.org\/10.1155\/2017\/9265396","relation":{},"ISSN":["2090-6560","2090-6579"],"issn-type":[{"value":"2090-6560","type":"print"},{"value":"2090-6579","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}