{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:10:47Z","timestamp":1760739047491,"version":"build-2065373602"},"reference-count":17,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,12]]},"abstract":"<jats:p>A Brazilian family of Italian descent is described in which the beta-thalassaemia gene is interacting with an alpha chain variant Hb Hasharon (alpha 47 Asp leads to His). One patient who was affected by homozygous beta 0-thalassaemia and heterozygous alpha Hasharon displayed the clinical picture of thalassaemia intermedia. Her haemolysate contained 8.6% Hb F Hasharon (alpha 2 Hasharon gamma 2) and 1.1% Hb A2, the remaining haemoglobin being Hb F. Hb A was not detected. Globin chain synthesis in reticulocytes showed non-alpha\/total alpha ratios of 0.29, 0.39, and 0.73 respectively for the patient, the mother, and the father, who is heterozygous for both the beta 0-thalassemia and Hb Hasharon genes. The possible contribution of Hb Hasharon heterozygosity to the less severe expression of homozygous beta 0-thalassaemia is discussed.<\/jats:p>","DOI":"10.1136\/jmg.19.6.437","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"437-440","source":"Crossref","is-referenced-by-count":4,"title":["Thalassaemia intermedia in a family with beta 0-thalassaemia and Hb Hasharon."],"prefix":"10.1136","volume":"19","author":[{"given":"M A","family":"Zago","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F F","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Bottura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1982,12,1]]},"reference":[{"edition":"nd ed","year":"1972","key":"ref_1","unstructured":"nd ed. Oxford: Blackwell Scientific Publications, 1972."},{"issue":"194-208","key":"ref_2","first-page":"\"3Bianco\" # \"257","article-title":"A study of thirty-one families with simple heterozygotes and combinations of F-thalassemia with A2-thalassemia","volume":"47","author":"F.-thalassemia","year":"1969","unstructured":"F-thalassemia. A study of thirty-one families with simple heterozygotes and combinations of F-thalassemia with A2-thalassemia. Am J Med 1969;47:194-208. 3Bianco 1, Graziani B, Carboni C. Genetic patterns in thalassemia intermedia (constitutional microcytic anemia). Familial, hematologic and biosynthetic studies. Hum Hered 1977;27:257-72.","journal-title":"Am J Med; Genetic patterns in thalassemia intermedia (constitutional microcytic anemia). Familial, hematologic and biosynthetic studies"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1159\/000207760","article-title":"Different types of betathalassemia intermedia. A genetic study in 20 patients","volume":"59","author":"Aksoy, M.; Dingol, G.; Erdem, S.","year":"1978","unstructured":"Aksoy M, Dingol G, Erdem S. Different types of betathalassemia intermedia. A genetic study in 20 patients. Acta Haematol (Basel) 1978;59:178-89.","journal-title":"Acta Haematol (Basel)"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1111\/j.1365-2141.1979.tb05850.x","article-title":"The importance of the genetic picture and globin synthesis in determining the clinical and haematological features of thalassaemia intermedia","volume":"41","author":"Gallo, E.; Massaro, P.; Miniero, R.; David, D.; Tarella, C.","year":"1979","unstructured":"Gallo E, Massaro P, Miniero R, David D, Tarella C. The importance of the genetic picture and globin synthesis in determining the clinical and haematological features of thalassaemia intermedia. Br J Haematol 1979;41:211-21.","journal-title":"Br J Haematol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1365-2141.1979.tb03703.x","article-title":"The heterogeneity of normal HbA23 thalassaemia in Greece","volume":"42","author":"Kattamis, C.; Metaxou-Mavromati, A.; Wood, W.G.; Nash, JR, Weatherall; D.J.","year":"1979","unstructured":"Kattamis C, Metaxou-Mavromati A, Wood WG, Nash JR, Weatherall DJ. The heterogeneity of normal HbA23 thalassaemia in Greece. Br J Haematol 1979;42:109-23.","journal-title":"Br J Haematol"},{"key":"ref_6","first-page":"527","article-title":"Molecular basis for mild forms of homozygous beta-thalassaemia","volume":"i:","author":"Weatherall, D.J.; Wood, W.G.; Pressley, L.; Higgs, D.R.; Clegg, J.B.","year":"1981","unstructured":"Weatherall DJ, Wood WG, Pressley L, Higgs DR, Clegg JB. Molecular basis for mild forms of homozygous beta-thalassaemia. 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J Clin Pathol 1972;25: 738-40.","journal-title":"J Clin Pathol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3109\/03630267609031020","article-title":"Separation of human hemoglobins by DEAE cellulose chromatography using glycine KCN-NaCl developers","volume":"1","author":"Abraham, E.C.; Reese, A.; Stallings, M.; Huisman, T.J.H.","year":"1976","unstructured":"Abraham EC, Reese A, Stallings M, Huisman TJH. Separation of human hemoglobins by DEAE cellulose chromatography using glycine KCN-NaCl developers. Hemoglobin 1976;1:27-44.","journal-title":"Hemoglobin"},{"key":"ref_10","first-page":"91","article-title":"Abnormal human haemoglobins. Separation and characterization of the a and 3 chains by chromatography, and the determination of two new variants, Hb","volume":"19","author":"Clegg, J.B.; Naughton, M.A.; Weatherall, D.J.","year":"1966","unstructured":"Clegg JB, Naughton MA, Weatherall DJ. Abnormal human haemoglobins. Separation and characterization of the a and 3 chains by chromatography, and the determination of two new variants, Hb Chesapeake and Hb J (Bangkok). J Mol Biol 1966;19:91-108.","journal-title":"Chesapeake and Hb J (Bangkok). J Mol Biol"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1365-2141.1969.tb00400.x","article-title":"The pattern of disordered haemoglobin synthesis in homozygous and heterozygous r-thalassaemia","volume":"16","author":"Weatherall, D.J.; Clegg, J.B.; Na-Nakorn, S.; Wasi, P.","year":"1969","unstructured":"Weatherall DJ, Clegg JB, Na-Nakorn S, Wasi P. The pattern of disordered haemoglobin synthesis in homozygous and heterozygous r-thalassaemia. Br J Haematol 1969;16:251-67.","journal-title":"Br J Haematol"},{"key":"ref_12","first-page":"827","article-title":"Hemoglobin Hasharon (alpha 47 aspartic acidhistidine)","volume":"3","author":"Halbrecht, I.; Isaacs, W.A.; Lehmann, H.; Ben-Porat, F.","year":"1967","unstructured":"Halbrecht I, Isaacs WA, Lehmann H, Ben-Porat F. Hemoglobin Hasharon (alpha 47 aspartic acidhistidine). Isr J Med Sci 1967;3:827-31.","journal-title":"Isr J Med Sci"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1111\/j.1399-0004.1980.tb01366.x","article-title":"Clinical, hematological and genetic features of sickle-cell anemia and sickle cell-5 thalassemia in a Brazilian population","volume":"18","author":"Zago, M.A.; Costa, F.F.; Freitas, T.C.; Bottura, C.","year":"1980","unstructured":"Zago MA, Costa FF, Freitas TC, Bottura C. Clinical, hematological and genetic features of sickle-cell anemia and sickle cell-5 thalassemia in a Brazilian population. Clin Genet 1980;18:58-64.","journal-title":"Clin Genet"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1136\/jmg.12.3.294","article-title":"Haemoglobin Hasharon in a North Italian community","volume":"12","author":"Alberti, R.; Mariuzzi, G.M.; Marinucci, M.; Bruni, E.; Tentori, L.","year":"1975","unstructured":"Alberti R, Mariuzzi GM, Marinucci M, Bruni E, Tentori L. Haemoglobin Hasharon in a North Italian community. J Med Genet 1975;12:294-6.","journal-title":"J Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1111\/j.1365-2141.1978.tb03622.x","article-title":"Decrease of alpha Hasharon globin in beta thalassaemia","volume":"39","author":"Conconi, F.; Alberti, R.; Mariuzzi, G.M.; Guglielmini, C.; Vullo, C.; del Senno, L.","year":"1978","unstructured":"Conconi F, Alberti R, Mariuzzi GM, Guglielmini C, Vullo C, del Senno L. Decrease of alpha Hasharon globin in beta thalassaemia. Br J Haematol 1978;39: 529-35.","journal-title":"Br J Haematol"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1182\/blood.V51.2.339.339","article-title":"Interaction between Hb Hasharon and alpha thalassemia: an approach to the problem of the number of human alpha loci","volume":"51","author":"Pich, P.; Saglio, G.; Camaschella, C.","year":"1978","unstructured":"Pich P, Saglio G, Camaschella C, et al. Interaction between Hb Hasharon and alpha thalassemia: an approach to the problem of the number of human alpha loci. Blood 1978; 51:339-46.","journal-title":"Blood"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1182\/blood.V56.6.1145.1145","article-title":"Organization of ac-globin genes in Hb Hasharon (oc47 asp--his) carriers","volume":"56","author":"Giglioni, B.; Comi, P.; Taramelli, R.","year":"1980","unstructured":"Giglioni B, Comi P, Taramelli R, et al. Organization of ac-globin genes in Hb Hasharon (oc47 asp--his) carriers. Blood 1980;56:1145-9.","journal-title":"Blood"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.19.6.437","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:50:27Z","timestamp":1760737827000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.19.6.437"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,12]]},"references-count":17,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1982,12,1]]},"published-print":{"date-parts":[[1982,12]]}},"alternative-id":["10.1136\/jmg.19.6.437"],"URL":"https:\/\/doi.org\/10.1136\/jmg.19.6.437","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1982,12]]}}}