{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:10:52Z","timestamp":1759727452392,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,2]]},"abstract":"<jats:p>A case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia was found during a screening programme in Sicily. The proband, a 4-year-old girl, showed a clinical picture of thalassaemia intermedia. Hb F (85.12% by the Singer method) was G gamma A gamma type. The parents and the brother were delta beta-thalassaemia carriers. Structural analysis of Hb F showed both G gamma and A gamma chains in the father, but only A gamma chains in the mother.<\/jats:p>","DOI":"10.1136\/jmg.20.1.73","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"73-75","source":"Crossref","is-referenced-by-count":1,"title":["delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia."],"prefix":"10.1136","volume":"20","author":[{"given":"S","family":"Musumeci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Romeo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Pizzarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Schilir\u00f2","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,2,1]]},"reference":[{"issue":"104","key":"ref_1","first-page":"2600","article-title":"Een cervico-oculo-acusticus syndrome","volume":"1960","author":"Wildervanck, L.S.","unstructured":"Wildervanck LS. Een cervico-oculo-acusticus syndrome. Ned Tijdschr Geneeskd 1960;104:2600-5.","journal-title":"Ned Tijdschr Geneeskd"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"445","DOI":"10.3109\/00016486609127082","article-title":"Radiological examination of the inner ear of deaf mutes presenting the cervico-oculo-acusticus syndrome","volume":"61","author":"Wildervanck, L.S.; Hoecksema, P.; Penny, L.","year":"1966","unstructured":"Wildervanck LS, Hoecksema P, Penny L. Radiological examination of the inner ear of deaf mutes presenting the cervico-oculo-acusticus syndrome. Acta Otolaryngol 1966;61:445-53.","journal-title":"Acta Otolaryngol"},{"key":"ref_3","first-page":"806","article-title":"Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes","author":"McKusick, V.A.","year":"1978","unstructured":"McKusick VA. Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. 5th ed. Baltimore: Johns Hopkins University Press, 1978:806-7.","edition":"5th ed"},{"issue":"44","key":"ref_4","first-page":"504","article-title":"Cervico-oculo-acusticus syndrome with pseudopapilloedema","volume":"1969","author":"Kirkham, T.","unstructured":"Kirkham T. Cervico-oculo-acusticus syndrome with pseudopapilloedema. Arc\/h Dis Child 1969;44:504-8.","journal-title":"Arc\/h Dis Child"},{"key":"ref_5","first-page":"157","article-title":"Cervico-oculo-acusticus syndrome of Wildervanck. Case report","volume":"15","author":"Say, B.; Balci, S.; Israel, R.","year":"1973","unstructured":"Say B, Balci S, Israel R, et al. Cervico-oculo-acusticus syndrome of Wildervanck. Case report. Turk J Pediatr 1973;15:157-63.","journal-title":"Turk J Pediatr"},{"key":"ref_6","first-page":"188","article-title":"Genetic and metabolic deafness","author":"Konigsmark, B.W.; Gorlin, R.J.","year":"1976","unstructured":"Konigsmark BW, Gorlin RJ. Genetic and metabolic deafness. Philadelphia: Saunders, 1976:188-91."},{"edition":"rd ed","year":"1981","key":"ref_7","unstructured":"rd ed. Oxford: Blackwell Scientific Publications, 1981."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1111\/j.1365-2141.1979.tb03786.x","article-title":"A comparison of the homozygous states for Gy and GyAy S3-thalassaemia","volume":"43","author":"Amin, A.B.; Pandya, N.L.; Diwin, P.P.","year":"1979","unstructured":"Amin AB, Pandya NL, Diwin PP, et al. A comparison of the homozygous states for Gy and GyAy S3-thalassaemia. Br J Haematol 1979;43:537-48.","journal-title":"Br J Haematol"},{"key":"ref_9","first-page":"307","article-title":"Applicazioni attuali e future dei recenti progressi di biologia molecolare della talassemia","volume":"40","author":"Cao, A.; Furbetta, M.; Galanello, R.; Pirasu, M.A.","year":"1980","unstructured":"Cao A, Furbetta M, Galanello R, Pirasu MA. Applicazioni attuali e future dei recenti progressi di biologia molecolare della talassemia. Prosp Pediatr 1980;40 307-19.","journal-title":"Prosp Pediatr"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1159\/000208907","article-title":"Three cases of homozygous r3-thalassaemia (or microcythaemia) with high Hb F in a Sicilian family","volume":"40","author":"Silvestroni, E.; Bianco, I.; Reitano, G.","year":"1968","unstructured":"Silvestroni E, Bianco I, Reitano G. Three cases of homozygous r3-thalassaemia (or microcythaemia) with high Hb F in a Sicilian family. Acta Haematol 1968;40: 220-9.","journal-title":"Acta Haematol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/0092-8674(76)90053-2","article-title":"(3-thalassaemia is due to a gene deletion","volume":"9","author":"Ottolenghi, S.; Comi, P.; Giglioni, B.","year":"1976","unstructured":"Ottolenghi S, Comi P, Giglioni B, et al. (3-thalassaemia is due to a gene deletion. Cell 1976;9:71-80.","journal-title":"Cell"},{"key":"ref_12","first-page":"598","volume":"279","author":"thalassaemia","year":"1976","unstructured":"thalassaemia. Nature 1976;279:598-603.","journal-title":"Nature"},{"key":"ref_13","article-title":"Note added in proof Another two cases of Ay63-thalassaemia with low levels of Hb F were recently reported by Cao et al","year":"1982","unstructured":"Note added in proof Another two cases of Ay63-thalassaemia with low levels of Hb F were recently reported by Cao et al (J Med Genet 1982; 19:184-92). Restriction enzyme analysis in these patients excluded the presence of large gene deletion or gross rearrangement within the non-x. globin cluster (Ottolenghi et al. Proc Natl Acad Sci USA, in press).","journal-title":"(Ottolenghi et al. Proc Natl Acad Sci USA; Restriction enzyme analysis in these patients excluded the presence of large gene deletion or gross rearrangement within the non-x. globin cluster"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.20.1.73","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:35:29Z","timestamp":1759725329000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.20.1.73"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,2]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1983,2,1]]},"published-print":{"date-parts":[[1983,2]]}},"alternative-id":["10.1136\/jmg.20.1.73"],"URL":"https:\/\/doi.org\/10.1136\/jmg.20.1.73","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1983,2]]}}}