{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:41:02Z","timestamp":1760769662990,"version":"build-2065373602"},"reference-count":23,"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>This paper reports a Sardinian patient, who was a compound heterozygote for silent beta-thalassaemia and high Hb A2 beta o-thalassaemia with the clinical phenotype of mild thalassaemia intermedia; alpha globin gene mapping showed a single alpha globin gene deletion. The reduced alpha globin chain output resulted in more balanced globin chain synthesis, which in turn accounted for the mild clinical phenotype.<\/jats:p>","DOI":"10.1136\/jmg.21.2.153","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"153-156","source":"Crossref","is-referenced-by-count":0,"title":["A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia."],"prefix":"10.1136","volume":"21","author":[{"given":"R","family":"Galanello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Maccioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Rosatelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Ibba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Nurchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,4,1]]},"reference":[{"issue":"5","key":"ref_1","first-page":"74","article-title":"The 18p-, 18q-, and 18r syndromes","volume":"1969","author":"de Grouchy J","unstructured":"de Grouchy J. The 18p-, 18q-, and 18r syndromes. Birth Defects 1969;5:74-87.","journal-title":"Birth Defects"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1111\/j.1399-0004.1975.tb01515.x","article-title":"Origin of a small metacentric chromosome: familial and cytogenetic evidence","volume":"8","year":"1975","unstructured":"Origin of a small metacentric chromosome: familial and cytogenetic evidence. Clin Genet 1975;8:364-9.","journal-title":"Clin Genet"},{"issue":"59-69","key":"ref_3","first-page":"\"4de\" # \"170","article-title":"Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature","volume":"44","author":"Nielsen, K.B.; Dyggve, H.; Friedrich, V.; Hobolth, N.; LyngbyeT, Mikkelsen; M.","year":"1978","unstructured":"Nielsen KB, Dyggve H, Friedrich V, Hobolth N, LyngbyeT, Mikkelsen M. Small metacentric nonsatellited extra chromosome: report of five mentally retarded individuals and review of literature. Han, Genet 1978;44: 59-69. 4de Grouchy J, Turleau CT. Clinical atlas of human chromosomes. New York: Wiley, 1977:170-6.","journal-title":"Han, Genet; Clinical atlas of human chromosomes"},{"issue":"14","key":"ref_4","article-title":"Trisomy-18 syndrome due to de-novo translocation","volume":"1","author":"Hecht, F.; Bryant, J.; Arakaki, D.; Kaplan, E.; Gentile, G.","year":"1963","unstructured":"Hecht F, Bryant J, Arakaki D, Kaplan E, Gentile G. Trisomy-18 syndrome due to de-novo translocation. Lantcet 1963;i: 1 14.","journal-title":"Lantcet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1111\/j.1399-0004.1979.tb00986.x","article-title":"Features of trisomy 18 and 18psyndromes in an infant with 46, XY, i(l8q)","volume":"16","author":"Bass, H.N.; Sparkes, R.S.; Miller, A.A.","year":"1979","unstructured":"Bass HN, Sparkes RS, Miller AA. Features of trisomy 18 and 18psyndromes in an infant with 46,XY, i(l8q). Clin Genet 1979;16:163-8.","journal-title":"Clin Genet"},{"issue":"12","key":"ref_6","first-page":"144","article-title":"Chromosome 18 abnormalities in a family with a translocation 5(18p-, 21p-)","volume":"1969","author":"Jacobsen, P.; Mikkelsen, M.","unstructured":"Jacobsen P, Mikkelsen M. Chromosome 18 abnormalities in a family with a translocation 5(18p-, 21p-). J Ment Defic Res 1969;12:144-61.","journal-title":"J Ment Defic Res"},{"key":"ref_7","first-page":"12","article-title":"Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin","volume":"24","author":"Madan, K.; Vlasveld, L.; Barth, P.G.","year":"1981","unstructured":"Madan K, Vlasveld L, Barth PG. Ring-18 and isopseudodicentric-18 in the same child: a hypothesis to account for common origin. Ann Genet (Paris) 1981;24: 12-6.","journal-title":"Ann Genet (Paris)"},{"key":"ref_8","unstructured":"In this case, the association of oc-thalassaemia reduced the globin chain imbalance and thus accounted for the mild clinical phenotype.","article-title":"In this case, the association of oc-thalassaemia reduced the globin chain imbalance and thus accounted for the mild clinical phenotype"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1159\/000207760","article-title":"Different types of beta thalassaemia intermedia. A genetic study in 20 patients","volume":"59","author":"Aksoy, M.; Dincol, G.; Erdem, S.","year":"1978","unstructured":"Aksoy M, Dincol G, Erdem S. Different types of beta thalassaemia intermedia. A genetic study in 20 patients. Acta Haematol 1978;59:178-89.","journal-title":"Acta Haematol"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1365-2141.1979.tb03703.x","article-title":"The heterogeneity of normal Hb A,, -thalassaemia in Greece","volume":"42","author":"Kattamis, C.; Mataxatou-Mavromati, A.; Wood, W.G.; Nash, JR, Weatherall; D.J.","year":"1979","unstructured":"Kattamis C, Mataxatou-Mavromati A, Wood WG, Nash JR, Weatherall DJ. The heterogeneity of normal Hb A,, -thalassaemia in Greece. Br J Haematol 1979; 42:109-23.","journal-title":"Br J Haematol"},{"key":"ref_11","article-title":"The thalassaelnia syndromnes","author":"Weatherall, D.J.; Clegg, J.B.","unstructured":"Weatherall DJ, Clegg JB. The thalassaelnia syndromnes. 3rd ed. Oxford: Blackwell Scientific Publications, 1981: 260.","edition":"3rd ed"},{"key":"ref_12","first-page":"700","article-title":"Microchromatography of hemoglobins. III. A simplified procedure for the determination of hemoglobin A","volume":"86","author":"Huisman, T.H.J.; Schroeder, W.; Brodie, A.N.; Mayson, S.M.; Jakway, J.","year":"1975","unstructured":"Huisman THJ, Schroeder W, Brodie AN, Mayson SM, Jakway J. Microchromatography of hemoglobins. III. A simplified procedure for the determination of hemoglobin A,. JLab Clin Med 1975;86:700-2.","journal-title":"JLab Clin Med"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1136\/jcp.25.8.738","article-title":"Reliable routine estimation of small amounts of foetal haemoglobin by alkali denaturation","volume":"25","author":"Pembrey, M.E.; McWade, P.; Weatherall, D.J.","year":"1972","unstructured":"Pembrey ME, McWade P, Weatherall DJ. Reliable routine estimation of small amounts of foetal haemoglobin by alkali denaturation. J Clin Pathol 1972;25: 738-40.","journal-title":"J Clin Pathol"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2515","DOI":"10.1172\/JCI105933","article-title":"Globin chain synthesis in alpha thalassemia syndromes","volume":"47","author":"Kan, Y.W.; Schwartz, E.; Nathan, D.G.","year":"1968","unstructured":"Kan YW, Schwartz E, Nathan DG. Globin chain synthesis in alpha thalassemia syndromes. J Clin Invest 1968;47:2515-22.","journal-title":"J Clin Invest"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/0009-8981(80)90450-7","article-title":"Human globin chain separation by isoelectric focusing in ultrathin polyacrylamide gels","volume":"107","author":"Valkoneni, K.; Giannazza, E.; Righetti, P.G.","year":"1980","unstructured":"Valkoneni K, Giannazza E, Righetti PG. Human globin chain separation by isoelectric focusing in ultrathin polyacrylamide gels. Clin Chinm Acta 1980;107:223-9.","journal-title":"Clin Chinm Acta"},{"key":"ref_16","first-page":"527","article-title":"Globin chain electrophoresis: a new approach. Br JHae, niatol","volume":"44","author":"Alter, B.P.; Goff, S.C.; Efremov, G.D.; Gravely, M.E.; Huisman, T.H.J.","year":"1980","unstructured":"Alter BP, Goff SC, Efremov GD, Gravely ME, Huisman THJ. Globin chain electrophoresis: a new approach. Br JHae,niatol 1980;44:527-34."},{"key":"ref_17","first-page":"805","article-title":"DNA analysis in the diagnosis of hemoglobin disorders. In: Methods in enzYmnology","author":"Goossens, M.; Kan, Y.W.","year":"1981","unstructured":"Goossens M, Kan YW. DNA analysis in the diagnosis of hemoglobin disorders. In: Methods in enzYmnology. New York: Academic Press, 1981:805."},{"key":"ref_18","first-page":"137","volume-title":"Nonrandom 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, Kazarian","year":"1982","unstructured":"Antonarakis SE, Boehm CD, Giardina PJV, Kazarian HH Jr. Nonrandom association of polymorphic restriction sites in the 3-globin gene cluster. Proc Natl Acad Sci USA 1982;79:137-41."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1111\/j.1365-2141.1982.tb02821.x","article-title":"'Silent' r-thalassaemia caused by a 'silent' 5-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia","volume":"51","author":"Fessas, P.; Loukopoulos, D.; Loutradi-Anagnostou, A.; Komis, G.","year":"1982","unstructured":"Fessas P, Loukopoulos D, Loutradi-Anagnostou A, Komis G. 'Silent' r-thalassaemia caused by a 'silent' 5-chain mutant: the pathogenesis of a syndrome of thalassaemia intermedia. BrJ Haematol 1982;51:577-83.","journal-title":"BrJ Haematol"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1172\/JCI110323","article-title":"Po-thalassemia in Sardinia is caused by a nonsense mutation","volume":"68","author":"Trecartin, R.F.; Liebhaber, S.A.; Chang, J.C.","year":"1981","unstructured":"Trecartin RF, Liebhaber SA, Chang JC, et al. Po-thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest 1981;68:1012-7.","journal-title":"J Clin Invest"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/j.1365-2141.1982.tb03916.x","article-title":"The interaction of ac-thalassaemia with heterozygous P-thalassaemia","volume":"52","author":"Kanavakis, E.; Wainscoat, J.S.; Wood, W.G.","year":"1982","unstructured":"Kanavakis E, Wainscoat JS, Wood WG, et al. The interaction of ac-thalassaemia with heterozygous P-thalassaemia. Br J Haemiatol 1982;52:465-73.","journal-title":"Br J Haemiatol"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1182\/blood.V62.1.226.226","article-title":"Phenotypic effect of heterozygous cc and [\u00b0- thalassemia interaction","volume":"62","author":"Melis, M.A.; Pirastu, M.; Galanello, R.; Furbetta, M.; Tuveri, T.; Cao, A.","year":"1983","unstructured":"Melis MA, Pirastu M, Galanello R, Furbetta M, Tuveri T, Cao A. Phenotypic effect of heterozygous cc and [\u00b0- thalassemia interaction. Blood 1983;62:226-9.","journal-title":"Blood"},{"key":"ref_23","first-page":"1327","article-title":"The silent carrier of beta thalassemia","volume":"281","author":"Schwartz, E.","year":"1969","unstructured":"Schwartz E. The silent carrier of beta thalassemia. N Eng, JMed 1969;281:1327-33."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.21.2.153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:15:20Z","timestamp":1760768120000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.21.2.153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,4]]},"references-count":23,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1984,4,1]]},"published-print":{"date-parts":[[1984,4]]}},"alternative-id":["10.1136\/jmg.21.2.153"],"URL":"https:\/\/doi.org\/10.1136\/jmg.21.2.153","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1984,4]]}}}