{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T22:26:34Z","timestamp":1792189594883,"version":"4.4.0"},"reference-count":5,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,1,31]],"date-time":"2020-01-31T00:00:00Z","timestamp":1580428800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Hemoglobin separation techniques are the most commonly used laboratory methods in newborn screening and confirmatory testing programs for hemoglobinopathies. However, such protein-based testing cannot accurately detect several hemoglobinopathies in newborns, especially when \u03b2-thalassemia mutations are involved. Here, we describe a consecutive cohort of newborns who were identified by newborn screening to have a likely diagnosis of sickle-\u03b2+-thalassemia (having an \u201cFSA\u201d pattern) who were determined to have sickle cell traits by confirmatory and genetic testing. We illustrate the clinical utility of genetic testing to make a correct and timely diagnosis in the setting of newborn screening for hemoglobinopathies.<\/jats:p>","DOI":"10.3390\/ijns6010007","type":"journal-article","created":{"date-parts":[[2020,1,31]],"date-time":"2020-01-31T05:55:46Z","timestamp":1580450146000},"page":"7","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical Utility of Confirmatory Genetic Testing to Differentiate Sickle Cell Trait from Sickle-\u03b2+-Thalassemia by Newborn Screening"],"prefix":"10.3390","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9860-5467","authenticated-orcid":false,"given":"Lisa M.","family":"Shook","sequence":"first","affiliation":[{"name":"Ohio Department of Health Regional Sickle Cell Services Program\u2013Region 1, Cincinnati, OH 45229, USA"},{"name":"Cincinnati Comprehensive Sickle Cell Center, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deidra","family":"Haygood","sequence":"additional","affiliation":[{"name":"Ohio Department of Health Regional Sickle Cell Services Program\u2013Region 1, Cincinnati, OH 45229, USA"},{"name":"Cincinnati Comprehensive Sickle Cell Center, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2372-2175","authenticated-orcid":false,"given":"Charles T.","family":"Quinn","sequence":"additional","affiliation":[{"name":"Ohio Department of Health Regional Sickle Cell Services Program\u2013Region 1, Cincinnati, OH 45229, USA"},{"name":"Cincinnati Comprehensive Sickle Cell Center, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH 45229, USA"},{"name":"Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA"},{"name":"Erythrocyte Diagnostic Laboratory, Cincinnati Children\u2019s Hospital Medical Center, Cincinnati, OH 45229, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1053\/j.semperi.2015.03.008","article-title":"Newborn screening for sickle cell disease in the United States: A review of data spanning 2 decades","volume":"39","author":"Therrell","year":"2015","journal-title":"Semin. Perinatol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"S512","DOI":"10.1016\/j.amepre.2009.12.022","article-title":"Population estimates of sickle cell disease in the U.S","volume":"38","author":"Hassell","year":"2010","journal-title":"Am. J. Prev. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1056\/NEJM198606193142501","article-title":"Prophylaxis with Oral Penicillin in Children with Sickle Cell Anemia","volume":"314","author":"Gaston","year":"1986","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"3447","DOI":"10.1182\/blood-2009-07-233700","article-title":"Improved survival of children and adolescents with sickle cell disease","volume":"115","author":"Quinn","year":"2010","journal-title":"Blood"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e27230","DOI":"10.1002\/pbc.27230","article-title":"New approach to accurate interpretation of sickle cell disease newborn screening by applying multiple of median cutoffs and ratios","volume":"65","author":"Allaf","year":"2018","journal-title":"Pediatr. Blood Cancer"}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/6\/1\/7\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T08:53:21Z","timestamp":1760172801000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/6\/1\/7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,31]]},"references-count":5,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2020,3]]}},"alternative-id":["ijns6010007"],"URL":"https:\/\/doi.org\/10.3390\/ijns6010007","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,31]]}}}