{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:34:12Z","timestamp":1760747652580,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,6]]},"abstract":"<jats:p>In this study the prevalence of the different beta-thalassaemia types in southern Sardinia was investigated by cellulose acetate and agar gel electrophoresis or globin chain synthesis analysis on column chromatography or both in (1) all the patients (347) presenting with thalassaemia major or intermedia at our haematology service from 1976 to 1979, and (2) a group of 82 patients with transfusion-dependent thalassaemia major randomly chosen from 236 under our care. Apart from six subjects with delta(beta)0\/beta+-thalassaemia genotype and eight with beta0\/beta+ or less probably beta+\/beta\/-thalassaemia, all thalassaemia major and intermedia patients studied were beta0-thalassaemia homozygotes. Globin chain synthesis on peripheral blood cells from these patients, performed at different intervals from blood transfusion, showed no incorporation of radioactive leucine into beta-globin peak, the same as before the transfusion. No correlation between kappa\/gamma ratios and clinical severity or hypersplenism was found. Globin chain synthesis analysis carried out at birth in three infants later found to have homozygous beta0-thalassaemia demonstrated imbalanced or borderline kappa\/gamma ratios.<\/jats:p>","DOI":"10.1136\/jmg.18.3.196","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"196-199","source":"Crossref","is-referenced-by-count":6,"title":["Beta-Thalassaemia types in southern Sardinia."],"prefix":"10.1136","volume":"18","author":[{"given":"A","family":"Cao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Furbetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Ximenes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Angius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Rosatelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Tuveri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M T","family":"Scalas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Falchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Maccioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Melis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Galanello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,6,1]]},"reference":[{"key":"ref_1","article-title":"The thalassaemia syndromes","author":"Weatherall, D.J.; Clegg, J.B.","year":"1972","unstructured":"Weatherall DJ, Clegg JB. The thalassaemia syndromes. 2nd ed. Oxford: Blackwell Scientific Publications, 1972.","edition":"2nd ed"},{"key":"ref_2","article-title":"Human hemoglobins","author":"Bunn, H.F.; Forget, B.G.; Ranney, H.M.","year":"1977","unstructured":"Bunn HF, Forget BG, Ranney HM. Human hemoglobins. Philadelphia: Saunders, 1977."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1016\/0092-8674(79)90022-9","article-title":"Recent developments in the molecular genetics of human hemoglobin","volume":"16","author":"Weatherall, D.J.; Clegg, J.B.","year":"1979","unstructured":"Weatherall DJ, Clegg JB. Recent developments in the molecular genetics of human hemoglobin. Cell 1979;16: 467-79.","journal-title":"Cell"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"605","DOI":"10.7326\/0003-4819-91-4-605","article-title":"Molecular genetics of human hemoglobin synthesis","volume":"91","author":"Forget, B.G.","year":"1979","unstructured":"Forget BG. Molecular genetics of human hemoglobin synthesis. Ann Intern Med 1979;91:605-16.","journal-title":"Ann Intern Med"},{"key":"ref_5","first-page":"71","article-title":"Absence of betaglobin synthesis and excess of alpha-globin synthesis in homozygous beta-thalassaemia","volume":"1","author":"Bargellesi, A.; Pontremoli, S.; Conconi, F.","year":"1967","unstructured":"Bargellesi A, Pontremoli S, Conconi F. Absence of betaglobin synthesis and excess of alpha-globin synthesis in homozygous beta-thalassaemia. Eur J Biochem 1967; 1:71-5.","journal-title":"Eur J Biochem"},{"issue":"6","key":"ref_6","first-page":"75","article-title":"thalassemia trait: hematologic and hemoglobin synthesis studies","volume":"3","author":"Pootrakul, S.; Assawamunkong, S.; Na-Nakorn, S.","year":"1976","unstructured":"P3 6 Pootrakul S, Assawamunkong S, Na-Nakorn S. thalassemia trait: hematologic and hemoglobin synthesis studies. Hemoglobin 1976;1:75-83.","journal-title":"Hemoglobin"},{"key":"ref_7","first-page":"193","article-title":"3-thalassemia in Sicily. Hematologic and biosynthetic studies","volume":"60","author":"Schiliro, G.; Musumeci, S.; Pizzarelli, G.; Di Gregorio, L.; Fisher, A.; Russo, G.","year":"1978","unstructured":"Schiliro G, Musumeci S, Pizzarelli G, Di Gregorio L, Fisher A, Russo G. 3-thalassemia in Sicily. Hematologic and biosynthetic studies. Acta Haematol 1978;60:193-200.","journal-title":"Acta Haematol"},{"key":"ref_8","first-page":"29","article-title":"Prevalence of P3 and f31 thalassemia genes in Greek children with homozygous 3-thalassemia","volume":"2","author":"Kattamis, C.; Karambula, K.; Metaxotou-Mavromati, A.; Ladis, B.; Costantopoulos, A.","year":"1978","unstructured":"Kattamis C, Karambula K, Metaxotou-Mavromati A, Ladis B, Costantopoulos A. Prevalence of P3 and f31 thalassemia genes in Greek children with homozygous 3-thalassemia. Hemoglobin 1978;2:29-46."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1136\/adc.52.6.489","article-title":"Total management of thalassaemia major","volume":"52","author":"Modell, C.B.","year":"1977","unstructured":"Modell CB. Total management of thalassaemia major. Arch Dis Child 1977;52:489-500.","journal-title":"Arch Dis Child"},{"key":"ref_10","first-page":"83","article-title":"Induction of 3-globin synthesis in the 3thalassaemia of Ferrara","volume":"238","author":"Conconi, F.; Rowley, P.T.; Del Senno, L.; Pontremoli, S.; Volpato, S.","year":"1972","unstructured":"Conconi F, Rowley PT, Del Senno L, Pontremoli S, Volpato S. Induction of 3-globin synthesis in the 3thalassaemia of Ferrara. Nature 1972;238:83-7.","journal-title":"Nature"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/254256a0","article-title":"thalassemic patients following blood transfusion","volume":"254","year":"1975","unstructured":"thalassemic patients following blood transfusion. Nature 1975;254:256-9.","journal-title":"Nature"},{"key":"ref_12","first-page":"700","article-title":"Microchromatography of hemoglobin. III. A simplified procedure for the determination of hemoglobin A2","volume":"86","author":"Huisman, T.H.J.; Schroeder, W.A.; Brodie, A.N.; Mayson, S.M.; Jakway, J.","year":"1975","unstructured":"Huisman THJ, Schroeder WA, Brodie AN, Mayson SM, Jakway J. Microchromatography of hemoglobin. III. A simplified procedure for the determination of hemoglobin A2. J Lab Clin Med 1975;86:700-2.","journal-title":"J Lab Clin Med"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1038\/1841877a0","article-title":"Estimation of small percentages of foetal hemoglobin","volume":"184","author":"Betke, K.; Marti, H.R.; Schlict, I.","year":"1959","unstructured":"Betke K, Marti HR, Schlict I. Estimation of small percentages of foetal hemoglobin. Nature 1959;184: 1877-8.","journal-title":"Nature"},{"key":"ref_14","first-page":"635","article-title":"Demonstration von fetalem haemoglobin in den erythrocyten eines blutausstriches","volume":"35","author":"Kleihauer, E.; Braun, H.; Betke, K.","year":"1957","unstructured":"Kleihauer E, Braun H, Betke K. Demonstration von fetalem haemoglobin in den erythrocyten eines blutausstriches. 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