{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:07:40Z","timestamp":1771470460532,"version":"3.50.1"},"reference-count":24,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2011,12,1]],"date-time":"2011-12-01T00:00:00Z","timestamp":1322697600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Med Screen"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p> To evaluate the relationship between FAST peak percentage by adapted Bio-Rad Vnbs analysis using the valley-to-valley integration and genotypes with the aim to improve differentiation between severe \u03b1-thalassaemia forms (HbH disease) and the milder disease types. <\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p> DNA analysis for \u03b1-thalassaemia was performed on 91 dried blood spot samples presenting normal and elevated FAST peak levels, selected during three years of Dutch national newborn screening. <\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p> Significant differences were found between samples with and without \u03b1-thalassaemia mutations, regardless of the genetic profiles. No significant difference was demonstrated between HPLC in -\u03b1\/\u03b1\u03b1 and -\u03b1\/-\u03b1, between -\u03b1\/-\u03b1 and \u2013\/\u03b1\u03b1 and between \u2013\/\u03b1\u03b1 and \u2013\/-\u03b1 genotypes. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p> This study confirms that the percentage HbBart's, as depicted by the FAST peak, is only a relative indication for the number of \u03b1 genes affected in \u03b1-thalassaemia. Based on the data obtained using the modified Bio-Rad Vnbs software, we adopted a cut-off value of 22.5% to discriminate between possible severe \u03b1-thalassaemia or HbH disease and other \u03b1-thalassaemia phenotypes. Retrospectively, if this cut-off value was utilized during this initial three-year period of neonatal screening, the positive predictive value would have been 0.030 instead of 0.014. <\/jats:p><\/jats:sec>","DOI":"10.1258\/jms.2011.011043","type":"journal-article","created":{"date-parts":[[2011,12,19]],"date-time":"2011-12-19T15:53:11Z","timestamp":1324309991000},"page":"182-186","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Relationship between neonatal screening results by HPLC and the number of \u03b1-thalassaemia gene mutations; consequences for the cut-off value"],"prefix":"10.1177","volume":"18","author":[{"given":"M J","family":"Bouva","sequence":"first","affiliation":[{"name":"National Institute for Public Health and the Environment, Laboratory for Infectious Diseases and Perinatal Screening, A. van Leeuwenhoeklaan 9, 3721 MA Bilthoven, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Sollaino","sequence":"additional","affiliation":[{"name":"Ospedale Regionale Microcitemie, Clinica Pediatrica 2, Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Perseu","sequence":"additional","affiliation":[{"name":"Instituto di Ricerca Genetica e Biomedica (IRGB) Consiglio Nazionale delle Ricerche, Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Galanello","sequence":"additional","affiliation":[{"name":"Ospedale Regionale Microcitemie, Clinica Pediatrica 2, Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P C","family":"Giordano","sequence":"additional","affiliation":[{"name":"Leiden University Medical Center, Department of Human and Clinical Genetics, Hemoglobinopathies Laboratory, Leiden, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C L","family":"Harteveld","sequence":"additional","affiliation":[{"name":"Leiden University Medical Center, Department of Human and Clinical Genetics, Hemoglobinopathies Laboratory, Leiden, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M H","family":"Cnossen","sequence":"additional","affiliation":[{"name":"Erasmus Medical Center\/Sophia Children's Hospital, Department of Pediatric Hematology, Rotterdam, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P C J I","family":"Schielen","sequence":"additional","affiliation":[{"name":"National Institute for Public Health and the Environment, Laboratory for Infectious Diseases and Perinatal Screening, A. van Leeuwenhoeklaan 9, 3721 MA Bilthoven, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L H","family":"Elvers","sequence":"additional","affiliation":[{"name":"National Institute for Public Health and the Environment, Laboratory for Infectious Diseases and Perinatal Screening, A. van Leeuwenhoeklaan 9, 3721 MA Bilthoven, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Peters","sequence":"additional","affiliation":[{"name":"Academic Medical Center\/Emma Children's Hospital, Department of Pediatric Hematology, Amsterdam, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2011,12,19]]},"reference":[{"key":"bibr1-jms.2011.011043","volume":"86","author":"Modell B","year":"2008","journal-title":"Bulletin of the World Health 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