{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:49:06Z","timestamp":1760906946220,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1984,8]]},"abstract":"<jats:p>An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both beta(+)- and delta beta-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and beta (+)-thalassaemia from her mother and delta beta-thalassaemia from her father. She was healthy and never needed blood transfusions. The possible contribution of heterocellular HPFH to the less severe expression of the compound delta beta\/beta(+)-thalassaemia heterozygosity is discussed. By DNA analysis the specific delta beta-thalassaemia defect on the gamma delta beta globin gene region has been established. In addition, a previously unreported association of a polymorphic restriction site haplotype with a beta (+)-thalassaemia mutation has been observed.<\/jats:p>","DOI":"10.1136\/jmg.21.4.263","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"263-267","source":"Crossref","is-referenced-by-count":5,"title":["Association of heterocellular HPFH, beta(+)-thalassaemia, and delta beta(0)-thalassaemia: haematological and molecular aspects."],"prefix":"10.1136","volume":"21","author":[{"given":"L","family":"Cianetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Care","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N M","family":"Sposi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Giampaolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Calandrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Petrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Massa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Marinucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Mavilio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Ceccanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,8,1]]},"reference":[{"key":"ref_1","article-title":"The thalassaemia syndromes","author":"Weatherall, D.J.; Clegg, J.B.","year":"1981","unstructured":"Weatherall DJ, Clegg JB. The thalassaemia syndromes. 3rd ed. Oxford: Blackwell Scientific Publications, 1981.","edition":"3rd ed"},{"key":"ref_2","article-title":"Haemoglobin switching in humans","volume-title":"Current concepts in erythropoiesis","author":"Peschle, C.; Migliaccio, G.; Migliaccio, A.R.","year":"1983","unstructured":"Peschle C, Migliaccio G, Migliaccio AR, et al. Haemoglobin switching in humans. In: Dunn C, ed. Current concepts in erythropoiesis. London: Wiley, 1983."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1111\/j.1365-2141.1982.tb01936.x","article-title":"Restriction endonuclease maps of the 3-globin gene cluster in the British and Greek forms of HPFH, and for one example of Gyp+HPFH","volume":"50","author":"Jones, R.W.; Old, J.M.; Wood, W.G.; Clegg, J.B.; Weatherall, D.J.","year":"1982","unstructured":"Jones RW, Old JM, Wood WG, Clegg JB, Weatherall DJ. Restriction endonuclease maps of the 3-globin gene cluster in the British and Greek forms of HPFH, and for one example of Gyp+HPFH. Br J Haematol 1982;50: 415-22.","journal-title":"Br J Haematol"},{"key":"ref_4","first-page":"249","article-title":"The British type of HPFH: cellular and molecular analysis of increased Hb F production","volume-title":"Advances in red cell biology","author":"Wood, W.G.; Old, J.M.; Darbre, P.D.; Clegg, J.B.; Weatherall, D.J.; McRae, I.A.","year":"1982","unstructured":"Wood WG, Old JM, Darbre PD, Clegg JB, Weatherall DJ, McRae IA. The British type of HPFH: cellular and molecular analysis of increased Hb F production. In: Weatherall DJ, Fiorelli G, Gorini S, eds. Advances in red cell biology. 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