{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T20:59:01Z","timestamp":1757451541600,"version":"3.38.0"},"reference-count":0,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Screen"],"published-print":{"date-parts":[[2007,6,1]]},"abstract":"<jats:p> Antenatal sickle and thalassaemia screening programmes are now established in most high prevalence areas in England. Although screening reliably detects \u03b2-thalassaemia trait, in many cases, results state that \u03b1-thalassaemia trait cannot be excluded. The detection of couples at risk of a child with hydrops fetalis is one of the aims of the national programme. We, therefore, performed polymerase chain reaction (PCR) for the common \u03b1-thalassaemia gene deletions to assess the usefulness of this technique in routine screening practice. <\/jats:p><jats:p> Between August 2001 and August 2002, of the 5092 women booked at the antenatal clinic, 425 were found to have a mean corpuscular haemoglobin (MCH) &lt;27 pg in the absence of \u03b2-thalassaemia trait; 189 (44.5%) had an MCH &lt;25 pg. All 425 patients underwent PCR analysis for the common deletions: \u2013SEA (South-East Asian), \u2013MED (Mediterranean), \u2212 \u03b1<jats:sup>20.5<\/jats:sup>, \u2013FIL (Filipino), \u2212 \u03b1 3.7 and \u2212 \u03b1 4.2 genotypes. <\/jats:p><jats:p> In total, 130 (31%) women were positive for \u03b1-thalassaemia deletion; 86 (24.7%) were heterozygous for \u2212 \u03b1 3.7, 19 (4.4%) were homozygous for \u2212 \u03b1 3.7, 12 (2.8%) were heterozygous for \u2212 \u03b1 4.2, 1 (0.2%) was homozygous for \u2212 \u03b1 4.2, 11 (2.6%) were heterozygous for \u2013SEA and one (0.2%) was heterozygous for the \u2013MED genotype. Although the detection rate for \u03b1<jats:sup>+<\/jats:sup>-thalassaemia was high, a strategy of selective screening using MCH &lt;25 pg and ethnic group (SEA, Middle East or Eastern MED) would have identified all individuals heterozygous for \u03b1<jats:sup>0<\/jats:sup>-thalassaemia. <\/jats:p><jats:p> Routine molecular screening for all forms of \u03b1-thalassaemia trait is unjustified in antenatal screening. <\/jats:p>","DOI":"10.1258\/096914107781261981","type":"journal-article","created":{"date-parts":[[2007,7,11]],"date-time":"2007-07-11T23:49:14Z","timestamp":1184197754000},"page":"60-61","source":"Crossref","is-referenced-by-count":8,"title":["Is routine molecular screening for common <i>\u03b1<\/i>-thalassaemia deletions necessary as part of an antenatal screening programme?"],"prefix":"10.1177","volume":"14","author":[{"given":"Y","family":"Sorour","sequence":"first","affiliation":[{"name":"Haematology Department, Sheffield Teaching Hospitals, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Heppinstall","sequence":"additional","affiliation":[{"name":"BMS2 Antenatal Screening Laboratory, Haematology Department, Sheffield Teaching Hospitals, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Porter","sequence":"additional","affiliation":[{"name":"Haematology Department, Sheffield Teaching Hospitals, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G A","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Molecular Haematology, Sheffield Teaching Hospitals, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C","family":"Goodeve","sequence":"additional","affiliation":[{"name":"Department of Molecular Haematology, Sheffield Teaching Hospitals, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Rees","sequence":"additional","affiliation":[{"name":"Haematology Department, King's College Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Wright","sequence":"additional","affiliation":[{"name":"Haematology Department, Sheffield Teaching Hospitals, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2007,6,1]]},"container-title":["Journal of Medical Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/096914107781261981","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1258\/096914107781261981","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,2]],"date-time":"2025-03-02T05:21:22Z","timestamp":1740892882000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1258\/096914107781261981"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,1]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2007,6,1]]}},"alternative-id":["10.1258\/096914107781261981"],"URL":"https:\/\/doi.org\/10.1258\/096914107781261981","relation":{},"ISSN":["0969-1413","1475-5793"],"issn-type":[{"type":"print","value":"0969-1413"},{"type":"electronic","value":"1475-5793"}],"subject":[],"published":{"date-parts":[[2007,6,1]]}}}