{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T19:35:30Z","timestamp":1784921730548,"version":"3.55.0"},"reference-count":7,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T00:00:00Z","timestamp":1639353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000030","name":"Centers for Disease Control and Prevention","doi-asserted-by":"publisher","award":["NU60OE000104-1"],"award-info":[{"award-number":["NU60OE000104-1"]}],"id":[{"id":"10.13039\/100000030","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Beta-thalassemia, a heritable condition of abnormal hemoglobin production, is not a core condition on the United States Recommended Uniform Screening Panel (RUSP) for state and territorial newborn screening (NBS) programs. However, screening for sickle cell disease (which is on the core RUSP) also detects reduced or absent levels of hemoglobin (Hb) A and certain other Hb variants associated with beta-thalassemia and, thus, allows for a timely referral to appropriate healthcare to minimize sequalae of the disease. The Association of Public Health Laboratories\u2019 Hemoglobinopathy Workgroup administered a comprehensive survey of all U.S. NBS programs to assess beta-thalassemia testing methodologies, the cutoffs for defining beta-thalassemia major, and the reporting and follow-up practices. Forty-six (87%) of the programs responded. Thirty-nine of the 46 responding programs (85%) report some form of suspected beta-thalassemia; however, the screening methods, the percentage of Hb A used as a cutoff for an indication of beta-thalassemia major, and the screening follow-up vary widely. The standardization of technical and reporting procedures may improve access to specialty care prior to severe complications, increase genetic counseling, and provide data needed to better understand the public health impact and clinical outcomes of beta-thalassemia in the United States.<\/jats:p>","DOI":"10.3390\/ijns7040083","type":"journal-article","created":{"date-parts":[[2021,12,14]],"date-time":"2021-12-14T01:22:05Z","timestamp":1639444925000},"page":"83","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Newborn Screening Practices for Beta-Thalassemia in the United States"],"prefix":"10.3390","volume":"7","author":[{"given":"Michael A.","family":"Bender","sequence":"first","affiliation":[{"name":"Clinical Research Division, Department of Pediatrics, Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA 98109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9639-9954","authenticated-orcid":false,"given":"Mary","family":"Hulihan","sequence":"additional","affiliation":[{"name":"National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Division of Blood Disorders, Atlanta, GA 30329, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7924-8521","authenticated-orcid":false,"given":"Mary Christine","family":"Dorley","sequence":"additional","affiliation":[{"name":"Tennessee Department of Health Laboratory Services, Nashville, TN 37243, USA"},{"name":"College of Health Professions, School of Health Sciences, Walden University, Minneapolis, MN 55401, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del Pilar","family":"Aguinaga","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Meharry Medical College, Nashville, TN 37208, USA"},{"name":"Meharry Sickle Cell Center, Meharry Medical College, Nashville, TN 37208, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelili","family":"Ojodu","sequence":"additional","affiliation":[{"name":"Association of Public Health Laboratories, Silver Spring, MD 20910, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2532-1084","authenticated-orcid":false,"given":"Careema","family":"Yusuf","sequence":"additional","affiliation":[{"name":"Association of Public Health Laboratories, Silver Spring, MD 20910, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.clinthera.2019.12.003","article-title":"Systematic Literature Review of the Burden of Disease and Treatment for Transfusion-dependent \u03b2-Thalassemia","volume":"42","author":"Betts","year":"2020","journal-title":"Clin. Ther."},{"key":"ref_2","unstructured":"Modell, B., Darlison, M.W., Moorthie, S., Blencowe, H., Petrou, M., Lawn, J., and Epidemiological Methods in Community Genetics and the Modell Global Database of Congenital Disorders (MGDb) (2021, November 30). UCL Discovery. Available online: https:\/\/discovery.ucl.ac.uk\/id\/eprint\/1532179\/."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/ijlh.12076","article-title":"Prenatal and Newborn Screening for Hemoglobinopathies","volume":"35","author":"Hoppe","year":"2013","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1182\/asheducation-2009.1.19","article-title":"Newborn Screening for Non-sickling Hemoglobinopathies","volume":"2009","author":"Hoppe","year":"2009","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program."},{"key":"ref_5","unstructured":"Clinical and Laboratory Standards Institute (CLSI) (2019). Newborn Screening for Hemoglobinopathies. CLSI Guideline NBS08, Clinical and Laboratory Standards Institute. [1st ed.]."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1177\/0969141318797373","article-title":"Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study","volume":"26","author":"Daniel","year":"2019","journal-title":"J. Med. Screen."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.15585\/mmwr.mm6936a7","article-title":"Newborn Screening Practices and Alpha-Thalassemia Detection\u2014United States, 2016","volume":"69","author":"Bender","year":"2020","journal-title":"MMWR Morb. Mortal. Wkly. Rep."}],"container-title":["International Journal of Neonatal Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2409-515X\/7\/4\/83\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:46:46Z","timestamp":1760168806000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2409-515X\/7\/4\/83"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,13]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,12]]}},"alternative-id":["ijns7040083"],"URL":"https:\/\/doi.org\/10.3390\/ijns7040083","relation":{},"ISSN":["2409-515X"],"issn-type":[{"value":"2409-515X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,13]]}}}