{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T02:57:32Z","timestamp":1787885852029,"version":"build-2784847793"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T00:00:00Z","timestamp":1469577600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mutations in the \u03b4\u2010globin gene are not pathogenically relevant, but co\u2010inheritance of \u03b4\u2010globin variants along with \u03b2\u2010globin gene defects can mask the diagnosis of \u03b2\u2010thalassaemia trait.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Routine haematological parameters were carried out. Molecular analysis of \u03b2\u2010globin gene mutations was carried out by <jats:styled-content style=\"fixed-case\">CRDB<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> ARMS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing. \u03b4\u2010 globin gene analysis was carried out by <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this case study, we report a \u03b2\u2212thalassaemia trait (<jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content> 1\u20105G\u2192C) (<jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content>:c.92 + 5G\u2192C) with HbA<jats:sub>2<\/jats:sub> of 1% showing the presence of \u03b4\u2010globin gene variant HbA<jats:sub>2<\/jats:sub> St. George <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content> 81 (C\u2192T) (<jats:styled-content style=\"fixed-case\">HBD<\/jats:styled-content>:c.244C\u2192T). A similar observation was reported in another unrelated patient who showed near absence of HbA<jats:sub>2<\/jats:sub> level in <jats:styled-content style=\"fixed-case\">HPLC<\/jats:styled-content>. He showed a presence of \u03b4\u2010globin gene mutation HbA<jats:sub>2<\/jats:sub> Saurashtra <jats:styled-content style=\"fixed-case\">CD<\/jats:styled-content> 100(C\u2192T) (<jats:styled-content style=\"fixed-case\">HBD<\/jats:styled-content>: c.301C\u2192T) and a single 3.7 kb deletion in the \u03b1\u2010globin gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In the countries, where \u03b2\u2010thalassaemia is prevalent, an awareness and detection of different \u03b4\u2010globin gene mutations is important, as complex interactions between these haemoglobinopathies can lead to the misdiagnosis of \u03b2\u2010thalassaemia carriers.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.12548","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T11:43:54Z","timestamp":1469619834000},"page":"610-615","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Delta globin gene variations leading to reduction in HbA<sub>2<\/sub> levels"],"prefix":"10.1111","volume":"38","author":[{"given":"P.","family":"Hariharan","sequence":"first","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M. Hospital Campus Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Colaco","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M. Hospital Campus Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Colah","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M. Hospital Campus Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Surat Raktadan Kendra and Research Center Udhana Surat India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Nadkarni","sequence":"additional","affiliation":[{"name":"National Institute of Immunohaematology (ICMR) K.E.M. Hospital Campus Parel Mumbai India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-11"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-012-0114-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2008.056945"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2013.852568"},{"key":"e_1_2_7_6_1","first-page":"129","article-title":"Known and new \u03b4 globin gene mutations and their diagnostic significance","volume":"91","author":"Bouva M","year":"2006","journal-title":"Haematologica"},{"key":"e_1_2_7_7_1","first-page":"8","article-title":"First report on the co\u2010inheritance of beta\u2010globin IVS\u2010I\u20105 (G\u2192C) thalassemia with delta globin CD12 Asn\u2192Lys (AAT\u2192AAA) HbA2 \u2010 NYU in Iran","volume":"14","author":"Amirian A","year":"2011","journal-title":"Arch Iran Med"},{"key":"e_1_2_7_8_1","first-page":"45","article-title":"HbA2 measurements in \u03b2\u2010thalassemia and in other conditions","volume":"4","author":"Ivaldi G","year":"2014","journal-title":"Thalassemia Rep"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4706"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2014.885908"},{"key":"e_1_2_7_11_1","first-page":"1681","article-title":"Analysis of \u03b4\u2010globin gene alleles in the Sicilian population: identification of five new mutations","volume":"91","author":"Giambona A","year":"2006","journal-title":"Haematologica"},{"key":"e_1_2_7_12_1","first-page":"10","article-title":"Application of covalent reverse dot blot hybridization for rapid prenatal diagnosis of the common Indian thalassemia syndromes","volume":"15","author":"Colah RB","year":"1997","journal-title":"Ind J Hematol Blood Transfus"},{"key":"e_1_2_7_13_1","first-page":"77","article-title":"Detection of mutations by the Amplification Refractory Mutation System (ARMS)","volume":"9","author":"Old J","year":"1992","journal-title":"Protoc Hum Mol Genet Methods Mol Biol"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1309\/AJCP70ORBRURVSJM"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks539"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2010.511591"},{"key":"e_1_2_7_17_1","unstructured":"Globin Gene Server.http:\/\/globin.cse.psu.edu\/(accessed 19 December 2015)."},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12288-012-0190-7"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/03630269.2011.557172"}],"container-title":["International Journal of Laboratory Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijlh.12548","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijlh.12548","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ijlh.12548","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T07:05:53Z","timestamp":1695539153000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijlh.12548"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,27]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1111\/ijlh.12548"],"URL":"https:\/\/doi.org\/10.1111\/ijlh.12548","archive":["Portico"],"relation":{},"ISSN":["1751-5521","1751-553X"],"issn-type":[{"value":"1751-5521","type":"print"},{"value":"1751-553X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,27]]}}}