{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T03:45:05Z","timestamp":1782877505929,"version":"3.54.5"},"reference-count":25,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,12]]},"abstract":"<jats:p>The frequency of thalassaemia syndromes in Sardinia was examined by a population survey. The data indicate that about 12.6% of the Sardinian subjects are carriers of beta-thalassaemia, while 6.9% of the population carries an alpha-thalassaemia gene, with a slight difference between the various provinces. These are among the highest frequencies of thalassaemia genes found in a Caucasian population today. A survey of hospital inpatients and outpatients showed a newborn incidence of homozygous beta-thalassaemia of 1 in 300. The reasons for the difference between the expected and observed incidence figures are discussed. Moreover, 3 subjects with deltabeta0-thalassaemia trait, 6 carriers of heterocellular persistence of fetal haemoglobin (HPFH), 1 sickle cell trait, and 3 subjects with Hb J Sardegna were found. Genetic heterogeneity of beta-thalassaemia syndromes in this population may generally result from interaction of alpha- and beta-thalassaemia genes.<\/jats:p>","DOI":"10.1136\/jmg.15.6.443","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"443-447","source":"Crossref","is-referenced-by-count":41,"title":["Thalassaemia types and their incidence in Sardinia."],"prefix":"10.1136","volume":"15","author":[{"given":"A","family":"Cao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Galanello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Furbetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P P","family":"Muroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Garbato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Rosatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M T","family":"Scalas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Addis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Ruggeri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Maccioni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M A","family":"Melis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1978,12,1]]},"reference":[{"key":"ref_1","first-page":"26","article-title":"Haemoglobin types in Greek populations","author":"Barnicot, N.A.; Allison, A.C.; Blumberg, B.S.; Deliyannis, G.; Krimbas, C.; Ballas, A.","year":"1963","unstructured":"Barnicot, N. A., Allison, A. C., Blumberg, B. S., Deliyannis, G., Krimbas, C., and Ballas, A. (1963). Haemoglobin types in Greek populations. Annals ofHuman Genetics, 26,229-236.","journal-title":"Annals ofHuman Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1016\/S0140-6736(77)91261-2","article-title":"Alpha-beta thalassemia","volume":"1","author":"Bate, C.M.; Humphries, G.","year":"1977","unstructured":"Bate, C. M., and Humphries, G. (1977). Alpha-beta thalassemia. Lancet, 1, 1031-1033.","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1038\/1841877a0","article-title":"Estimation of small percentage of foetal haemoglobin","volume":"184","author":"Betke, K.; Marti, H.R.; Schlicht, I.","year":"1959","unstructured":"Betke, K., Marti, H. R., and Schlicht, I. (1959). Estimation of small percentage of foetal haemoglobin. Nature, 184, 1877-1878.","journal-title":"Nature"},{"key":"ref_4","first-page":"256","article-title":"Inheritance of F cell frequency in heterocellular persistence of fetal hemoglobin: an example of allelic exclusion","volume":"29","author":"Boyer, S.H.; Margolet, L.; Boyer, M.L.; Huisman, T.H.J.; Schroeder, W.A.; Wood, W.G.; Weatherall, D.J.; Clegg, J.B.; artner, C.; R.","year":"1977","unstructured":"Boyer, S. H., Margolet, L., Boyer, M. L., Huisman, T. H. J., Schroeder, W. A., Wood, W. G., Weatherall, D. J., Clegg, J. B., and C artner, R. (1977). Inheritance of F cell frequency in heterocellular persistence of fetal hemoglobin: an example of allelic exclusion. American Journal ofHuman Genetics, 29, 256-271.","journal-title":"American Journal ofHuman Genetics"},{"key":"ref_5","first-page":"34","article-title":"Aspetti medico sociali della microcitemia in Sardegna. 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Annali Italiani di Pediatria"},{"key":"ref_13","article-title":"Normale und Anomale Menschliche Hdmoglobine","author":"Marti, H.R.","year":"1963","unstructured":"Marti, H. R. (1963). Normale und Anomale Menschliche Hdmoglobine. Springer, Berlin."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1365-2141.1976.tb00974.x","article-title":"Clinical and haematological data in 254 cases of 0-thalassaemia trait in Italy","volume":"33","author":"Mazza, U.; Saglio, G.; Caligaris Cappio, F.; Camaschella, C.; Neretto, G.; Gallo, E.","year":"1976","unstructured":"Mazza, U., Saglio, G., Caligaris Cappio, F., Camaschella, C., Neretto, G., and Gallo, E. (1976). Clinical and haematological data in 254 cases of 0-thalassaemia trait in Italy. 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British Journal of Haematology, 36,461-473.","journal-title":"British Journal of Haematology"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.6.443","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:40:27Z","timestamp":1760762427000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.6.443"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,12]]},"references-count":25,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1978,12,1]]},"published-print":{"date-parts":[[1978,12]]}},"alternative-id":["10.1136\/jmg.15.6.443"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.6.443","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,12]]}}}