{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T18:07:48Z","timestamp":1791482868617,"version":"4.3.4"},"reference-count":37,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T00:00:00Z","timestamp":1637020800000},"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>Sickle cell disease (SCD), a group of inherited red blood cell (RBC) disorders caused by pathogenic variants in the beta-globin gene (HBB), can cause lifelong disabilities and\/or early mortality. If diagnosed early, preventative measures significantly reduce adverse outcomes related to SCD. In Alberta, Canada, SCD was added to the newborn screening (NBS) panel in April 2019. The primary conditions screened for are sickle cell anemia (HbS\/S), HbS\/C disease, and HbS\/\u03b2 thalassemia. In this study, we retrospectively analyzed the first 19 months of SCD screening performance, as well as described our approach for screening of infants that have received a red blood cell transfusion prior to collection of NBS specimen. Hemoglobins eluted from dried blood spots were analyzed using the Bio-Rad\u2122 VARIANT nbs analyzer (Bio-Rad Laboratories, Inc., Hercules, CA, USA). Targeted sequencing of HBB was performed concurrently in samples from all transfused infants. During the period of this study, 43 of 80,314 screened infants received a positive NBS result for SCD, and of these, 34 were confirmed by diagnostic testing, suggesting a local SCD incidence of 1:2400 births. There were 608 infants with sickle cell trait, resulting in a carrier frequency of 1:130. Over 98% of non-transfused infants received their NBS results within 10 days of age. Most of the 188 transfused infants and 2 infants who received intrauterine transfusions received their final SCD screen results within 21 \u00b1 10 d of birth. Our SCD screening algorithm enables detection of affected newborns on the initial NBS specimen, independent of the reported blood transfusion status.<\/jats:p>","DOI":"10.3390\/ijns7040078","type":"journal-article","created":{"date-parts":[[2021,11,17]],"date-time":"2021-11-17T21:32:07Z","timestamp":1637184727000},"page":"78","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing"],"prefix":"10.3390","volume":"7","author":[{"given":"Janet R.","family":"Zhou","sequence":"first","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2B7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross","family":"Ridsdale","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3827-7147","authenticated-orcid":false,"given":"Lauren","family":"MacNeil","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Lilley","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7147-1916","authenticated-orcid":false,"given":"Stephanie","family":"Hoang","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5248-3049","authenticated-orcid":false,"given":"Susan","family":"Christian","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2721-3995","authenticated-orcid":false,"given":"Pamela","family":"Blumenschein","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Wolan","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2B7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aisha","family":"Bruce","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gurpreet","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian S.","family":"Parboosingh","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada"},{"name":"Alberta Children\u2019s Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan E.","family":"Lamont","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada"},{"name":"Alberta Children\u2019s Hospital Research Institute for Child and Maternal Health, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5537-5892","authenticated-orcid":false,"given":"Iveta","family":"Sosova","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening and Biochemical Genetics Laboratory, University of Alberta Hospital, Alberta Precision Laboratories, Edmonton, AB T6G 2B7, Canada"},{"name":"Department of Laboratory Medicine and Pathology, University of Alberta, Edmonton, AB T6G 2B7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,11,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"a011643","DOI":"10.1101\/cshperspect.a011643","article-title":"The switch from fetal to adult hemoglobin","volume":"3","author":"Sankaran","year":"2013","journal-title":"Cold Spring Harb. 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