{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T03:03:35Z","timestamp":1789009415397,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,6,26]],"date-time":"2012-06-26T00:00:00Z","timestamp":1340668800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To study the varied clinical and haematological profile of \u03b2\u2010thalassaemia homozygotes, compound heterozygotes and heterozygotes with the <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>oly <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content><jats:bold>\u2192<\/jats:bold><jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>) mutation and its implication in prenatal diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>Forty individuals were included in the study. Peripheral smear examination, complete blood count and haemoglobin analysis were carried out. \u03b2\u2010thalassaemia mutation analysis was carried out by reverse\u2010dot\u2010blot hybridization, amplification refractory mutation system and <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing of the \u03b2\u2010globin gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five of the six \u03b2\u2010thalassaemia homozygotes with the <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>oly <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content><jats:bold>\u2192<\/jats:bold><jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>) mutation and five individuals who were compound heterozygous for the <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>oly <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content><jats:bold>\u2192<\/jats:bold><jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>) mutation along with another common <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>ndian \u03b2\u2010thalassaemia mutation showed a severe \u03b2\u2010thalassaemia major phenotype, while one individual presented as a thalassaemia intermedia. Majority of the 28 heterozygous individuals with this mutation showed borderline HbA<jats:sub>2<\/jats:sub> (mean HbA<jats:sub>2<\/jats:sub>\u00a0=\u00a03.7\u00a0\u00b1\u00a00.4%) levels as compared to individuals with common \u03b2\u2010thalassaemia mutations (mean HbA<jats:sub>2<\/jats:sub>\u00a0=\u00a05.2\u00a0\u00b1\u00a01.4%). The <jats:styled-content style=\"fixed-case\">Mean Corpuscular Volume (MCV)<\/jats:styled-content> levels in individuals heterozygous for the <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>oly <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content><jats:bold>\u2192<\/jats:bold><jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>) mutation (mean <jats:styled-content style=\"fixed-case\">MCV<\/jats:styled-content> 70.0\u00a0\u00b1\u00a05.2\u00a0fl) were significantly higher than in individuals with other common \u03b2\u2010thalassaemia mutations (mean <jats:styled-content style=\"fixed-case\">MCV<\/jats:styled-content> 60.7\u00a0\u00b1\u00a07.7\u00a0fl) (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>It is important to identify these often silent carriers of \u03b2\u2010thalassaemia for prenatal diagnosis as homozygotes have a severe disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/j.1600-0609.2012.01810.x","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T11:49:27Z","timestamp":1339501767000},"page":"160-164","source":"Crossref","is-referenced-by-count":9,"title":["Variable haematological and clinical presentation of \u03b2\u2010thalassaemia carriers and homozygotes with the <scp>P<\/scp>oly <scp>A<\/scp> (<scp>T<\/scp>\u2192<scp>C<\/scp>) mutation in the Indian population"],"prefix":"10.1111","volume":"89","author":[{"given":"Khushnooma","family":"Italia","sequence":"first","affiliation":[{"name":"National Institute of Immunohaematology Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratibha","family":"Sawant","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reema","family":"Surve","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marukh","family":"Wadia","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Nadkarni","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanjaksha","family":"Ghosh","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roshan","family":"Colah","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,6,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.1286"},{"key":"e_1_2_6_3_1","first-page":"241","volume-title":"Trends in Haematology, JB. 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