{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:10:23Z","timestamp":1760767823715,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,4]]},"abstract":"<jats:p>Haematological and molecular studies on 32 heterozygotes for G gamma A gamma delta beta(0)-thalassaemia from 15 unrelated families from southern Italy are reported. The haematological features of G gamma A gamma delta beta(0)-thalassaemia carriers are compared with those of beta-thalassaemia and Hb Lepore heterozygotes. Striking similarity exists between the phenotypic expression of beta-thalassaemia and Lepore mutations. Globin gene mapping studies indicated that the molecular lesion underlying delta beta-thalassaemia is a large deletion starting from the large intervening sequence of the delta gene and extending downstream from the beta gene. The possibility that delta beta-thalassaemia haplotypes in southern Italy originated from a single mutational event is discussed.<\/jats:p>","DOI":"10.1136\/jmg.21.2.117","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"117-120","source":"Crossref","is-referenced-by-count":3,"title":["Delta beta-thalassaemia in southern Italy: evidence for a single mutational event."],"prefix":"10.1136","volume":"21","author":[{"given":"A","family":"Car\u00e8","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N M","family":"Sposi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Giampaolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Improta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Calandrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Petrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Marinucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Tagarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,4,1]]},"reference":[{"key":"ref_1","first-page":"265","article-title":"-thalassaemia accounts for 9.23 \u00b10-03 pg\/cell, which is assumed to represent the product of the single normal f gene in trans to the deletion. The overproduction with respect to a 3 gene in normal the globin gene deletion in Sp thalassaemia","volume":"8","author":"Bernards, R.; Kooter, S.M.; Flavell, R.A.","year":"1979","unstructured":"Bernards R, Kooter SM, Flavell RA. Physical mapping of 8 -thalassaemia accounts for 9.23 \u00b10-03 pg\/cell, which is assumed to represent the product of the single normal f gene in trans to the deletion. The overproduction with respect to a 3 gene in normal the globin gene deletion in Sp thalassaemia. Gene 1979;6: 265-80.","journal-title":"Physical mapping of"},{"key":"ref_2","article-title":"Characterization of deletions which affect the expression of fetal globin genes in man","author":"Fritsh, E.F.; Lawn, R.M.; Maniatis, T.","year":"1979","unstructured":"Fritsh EF, Lawn RM, Maniatis T. Characterization of deletions which affect the expression of fetal globin genes in man. Nature 1979;279:598-603. subjects (7.47\u00b10.06 pg\/cell\/cis) indicates the capability of the 3 gene to respond to a compensatory stimulus in this condition (about 1\/4).","journal-title":"Nature; 279: 598-603. subjects (7.47\u00b10.06 pg\/cell\/cis) indicates the capability of the 3 gene to respond to a compensatory stimulus in this condition (about 1\/4"},{"key":"ref_3","first-page":"287","article-title":"Heterogeneity of 8g thalassemia and HPFH in Mediterranean populations: gene mapping studies","volume-title":"Organization and expression The same extent of compensation was also observed ofglobin genes","author":"Ottolenghi, S.; Giglioni, B.; Taramelli, R.","year":"1981","unstructured":"Ottolenghi S, Giglioni B, Taramelli R, et al. Heterogeneity of 8g thalassemia and HPFH in Mediterranean populations: gene mapping studies. In: Stamatoyannopoulos G, Nienhuis AW, eds. Organization and expression The same extent of compensation was also observed ofglobin genes. New York: Liss, 1981:287-98."},{"key":"ref_4","first-page":"527","article-title":"thalassaemia showed increased activity when com-Huisman THJ. Globin chain electrophoresis: a new pared to half of the 6 chain production in normal subjects (0*28 \u00b10.03 pg\/cell vs 0 21 +0 * 01 pg\/cell\/ cis, p<10-5). This overproduction (of about 1\/3) is approach to the determination of the Gy\/Ay ratio in fetal haemoglobin and to studies of globin synthesis","volume":"44","author":"Alter, B.P.; Goff, S.C.; Efremov, G.D.; Gravely, M.E.","year":"1980","unstructured":"Alter BP, Goff SC, Efremov GD, Gravely ME, thalassaemia showed increased activity when com-Huisman THJ. Globin chain electrophoresis: a new pared to half of the 6 chain production in normal subjects (0*28 \u00b10.03 pg\/cell vs 0 21 +0 * 01 pg\/cell\/ cis, p<10-5). This overproduction (of about 1\/3) is approach to the determination of the Gy\/Ay ratio in fetal haemoglobin and to studies of globin synthesis. Br J Haematol 1980;44:527-34.","journal-title":"Br J Haematol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/nar\/5.2.563","article-title":"Insertion of synthetic copies of human globin genes into bacterial plasmids","volume":"5","author":"Wilson, J.T.; Wilson de Riel, J.K.; Villa-Komaroff, L.; Efstratiadis, A.; Forget, B.J.; Weissman, S.M.","year":"1978","unstructured":"Wilson JT, Wilson de Riel JK, Villa-Komaroff L, Efstratiadis A, Forget BJ, Weissman SM. Insertion of synthetic copies of human globin genes into bacterial plasmids. Nucleic Acilis Res 1978;5:563-81.","journal-title":"Nucleic Acilis Res"},{"key":"ref_6","first-page":"137","volume-title":"Non-random association of polymorphic restriction sites in the 3-globin gene cluster. Proc Natl Acad Sci","volume":"79","author":"Antonarakis, S.E.; Boehm, C.D.; Giardina, P.J.V.; HH, Jr, Kazazian","year":"1982","unstructured":"Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH Jr. Non-random association of polymorphic restriction sites in the 3-globin gene cluster. Proc Natl Acad Sci USA 1982;79:137-41."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.2.117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:38:51Z","timestamp":1760765931000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.2.117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,4]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1984,4,1]]},"published-print":{"date-parts":[[1984,4]]}},"alternative-id":["10.1136\/jmg.21.2.117"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.2.117","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1984,4]]}}}