{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T00:38:55Z","timestamp":1787618335953,"version":"build-2736575974"},"reference-count":0,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1999,1,1]],"date-time":"1999-01-01T00:00:00Z","timestamp":915148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Hered"],"published-print":{"date-parts":[[1999]]},"abstract":"<jats:p>324 alleles of the \u03b2-globin gene from unrelated thalassaemia patients native to the eastern region of India (mainly from the state of West Bengal) were analysed for \u03b2-globin gene mutations by the amplification refractory mutation system (ARMS). The major mutations that were detected are IVS-1 pos 5 (G\u2013C), codon 26 (G\u2013A) and codon 30 (G\u2013C) with frequencies of 0.45, 0.33 and 0.05, respectively. Haplotype analysis revealed a very strong linkage disequilibrium of IVS-1 pos 5 (G\u2013C) with one particular haplotype. HbE was found to be associated with two major haplotypes. Codon 30 (G\u2013C) was associated with a haplotype that is the same as that found in the African population. Haplotype associated with codon 8\/9 (+G) was the same as that found in northwest India. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal diagnosis of \u03b2-thalassaemia in this region.<\/jats:p>","DOI":"10.1159\/000022880","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T17:26:45Z","timestamp":1050427605000},"page":"232-235","source":"Crossref","is-referenced-by-count":26,"title":["Major Beta-Globin Gene Mutations in Eastern India and Their Associated Haplotypes"],"prefix":"10.1159","volume":"49","author":[{"given":"Aditi","family":"Bandyopadhyay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanmay","family":"Bandyopadhyay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju Dutta","family":"Chowdhury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma B.","family":"Dasgupta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[1999,7,26]]},"container-title":["Human Heredity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/22880","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/22880","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:47:35Z","timestamp":1745470055000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000022880"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1999,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000022880","archive":["Portico"],"relation":{},"ISSN":["0001-5652","1423-0062"],"issn-type":[{"value":"0001-5652","type":"print"},{"value":"1423-0062","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999]]}}}