{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T23:06:52Z","timestamp":1770505612642,"version":"3.49.0"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,7,19]],"date-time":"2004-07-19T00:00:00Z","timestamp":1090195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2004,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A clinical, haematological, biochemical and molecular study was carried out in 17 patients affected with thalassaemia intermedia, who were compound heterozygotes for the <jats:italic>\u03b2<\/jats:italic>\u2010thalassaemia mutation <jats:italic>\u03b2<\/jats:italic>\u201087 C\u2192G to determine the genetic basis of their clinical heterogeneity. The <jats:italic>\u03b2<\/jats:italic>\u201087 was found associated with haplotype VIII (<jats:italic>\u03b2<\/jats:italic>\u201087\/VIII) or V (<jats:italic>\u03b2<\/jats:italic>\u201087\/V). The 10 patients with the <jats:italic>\u03b2<\/jats:italic>\u201087\/VIII showed milder clinical conditions, with significantly higher levels of haemoglobin (Hb) (9\u00b78\u2003\u00b1\u20031\u00b71\u2003g\/dl vs. 8\u00b75\u2003\u00b1\u20031\u00b73\u2003g\/dl) and fetal haemoglobin (Hb F) (6\u00b72\u2003\u00b1\u20031\u00b75\u2003g\/dl vs. 2\u00b76\u2003\u00b1\u20031\u00b75\u2003g\/dl; <jats:italic>P<\/jats:italic>\u2003=\u20030\u00b70034) and higher synthesis of <jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic> (<jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic>\/<jats:sup>Total<\/jats:sup><jats:italic>\u03b3<\/jats:italic>\u200369\u00b74\u2003\u00b1\u20032\u00b76% vs. 42\u00b78\u2003\u00b1\u200316\u00b72%; <jats:italic>P<\/jats:italic>\u2003=\u20030\u00b70042) than the seven patients with the <jats:italic>\u03b2<\/jats:italic>\u201087\/V. The <jats:italic>\u03b2<\/jats:italic>\u201087\/VIII showed a configuration of rare polymorphisms in the 5\u2032 sub\u2010haplotype, which have been reported to exert an increasing effect on Hb F. They were \u2018T\u2019\u2212158 <jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic>\u2010globin gene, T\u2010A\u2010G in pre\u2010<jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic> framework, (TG)<jats:sub>11<\/jats:sub>(CG)<jats:sub>3<\/jats:sub> in the <jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic>\u2010IVS2, (AT)<jats:sub>9<\/jats:sub>N<jats:sub>12<\/jats:sub>(AT)<jats:sub>10<\/jats:sub> in LCR\u2010HS2; in contrast, the haplotype V had, respectively, \u2018C\u2019, T\u2010G\u2010A (TG)<jats:sub>19<\/jats:sub>(CG)<jats:sub>2<\/jats:sub>CACG in the <jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic>\u2010IVS2, and (AT)<jats:sub>10<\/jats:sub>N<jats:sub>12<\/jats:sub>(AT)<jats:sub>11<\/jats:sub>. In all patients the <jats:italic>\u03b2<\/jats:italic>\u201087 was associated with the (AT)<jats:sub>9<\/jats:sub>T<jats:sub>5<\/jats:sub> motif 5\u2032\u2003<jats:italic>\u03b2<\/jats:italic>\u2010globin gene with increased affinity for the BP\u20101 protein, and with the (TG)<jats:sub>13<\/jats:sub> in the <jats:sup>A<\/jats:sup><jats:italic>\u03b3<\/jats:italic>\u2010IVS2. The high increase of the Hb F, mostly of the <jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic>\u2010type, strongly suggests the hypothesis that the \u2018T\u2019\u2212158 <jats:sup>G<\/jats:sup><jats:italic>\u03b3<\/jats:italic> plays a principal role and that the other polymorphisms could exert a cooperative role in the modulation of Hb F in patients with erythropoietic stress.<\/jats:p>","DOI":"10.1111\/j.1365-2141.2004.05089.x","type":"journal-article","created":{"date-parts":[[2004,8,24]],"date-time":"2004-08-24T16:13:43Z","timestamp":1093364023000},"page":"743-749","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>\u03b2<\/i>\u2010thalassaemia\u201087 C\u2192G: relationship of the Hb F modulation and polymorphisms in compound heterozygous patients"],"prefix":"10.1111","volume":"126","author":[{"given":"Maria","family":"De Angioletti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppina","family":"Lacerra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonilde","family":"Pagano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Alessi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossana","family":"D'Avino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Manca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clementina","family":"Carestia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,7,19]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00208941"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830360109"},{"key":"e_1_2_15_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830410206"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1990.tb02629.x"},{"key":"e_1_2_15_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1987.00231.x"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2003.04754.x"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1988.tb02379.x"},{"key":"e_1_2_15_9_1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1182\/blood.V71.1.248.248","article-title":"Mild 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