{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:14:08Z","timestamp":1760728448252,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,6]]},"abstract":"<jats:p>A study of the causes of anaemia in the south west Pacific archipelago of Vanuatu has identified one island, Maewo, where the carrier rate for beta thalassaemia exceeds 20%, one of the highest recorded incidences in the world. Homozygous beta thalassaemia is a major cause of infant mortality and a serious drain on health resources on this island. Interactions of beta thalassaemia with various forms of alpha + thalassaemia were common in this population. Coexistent alpha + thalassaemia leads to better haemoglobinised and larger red cells than are seen in simple beta thalassaemia heterozygotes and screening for the latter can only be reliably carried out by Hb A2 estimation.<\/jats:p>","DOI":"10.1136\/jmg.24.6.357","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"357-361","source":"Crossref","is-referenced-by-count":5,"title":["High frequency of beta thalassaemia in a small island population in Melanesia."],"prefix":"10.1136","volume":"24","author":[{"given":"D K","family":"Bowden","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A V","family":"Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Weatherall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J B","family":"Clegg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,6,1]]},"reference":[{"key":"ref_1","first-page":"1025","article-title":"Relative roles of genetic factors, dietary deficiency, and infection in anaemia in Vanuatu","volume":"ii:","author":"Bowden, D.K.; Hill, A.V.S.; Higgs, D.R.; Weatherall, D.J.; Clegg, J.B.","year":"1985","unstructured":"Bowden DK, Hill AVS, Higgs DR, Weatherall DJ, Clegg JB. Relative roles of genetic factors, dietary deficiency, and infection in anaemia in Vanuatu, Southwest Pacific. Lancet 1985;ii: 1025-8.","journal-title":"Southwest Pacific. Lancet"},{"key":"ref_2","first-page":"379","article-title":"Population genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis","volume":"34","author":"Siniscalco, M.; Bernini, L.; Filippi, G.; Latte, B.; Merra Khan, P.; Piomelli, S.","year":"1966","unstructured":"Siniscalco M, Bernini L, Filippi G, Latte B, Merra Khan P, Piomelli S. Population genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis. Bull WHO 1966;34:379-93.","journal-title":"Bull WHO"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/0035-9203(54)90101-7","article-title":"The distribution of the sickle cell trait in East Africa and elsewhere and its apparent relationship to the incidence of subtertian malaria","volume":"48","author":"Allison, A.C.","year":"1954","unstructured":"Allison AC. The distribution of the sickle cell trait in East Africa and elsewhere and its apparent relationship to the incidence of subtertian malaria. Trans R Soc Trop Med Hyg 1954;48:312-8.","journal-title":"Trans R Soc Trop Med Hyg"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1016\/0035-9203(80)90182-0","article-title":"The interaction between sickle haemoglobin and the malarial parasite Plasmodium falciparum","volume":"74","author":"Pasvol, G.","year":"1980","unstructured":"Pasvol G. The interaction between sickle haemoglobin and the malarial parasite Plasmodium falciparum. Trans R Soc Trop Med Hyg 1980;74:701-5.","journal-title":"Trans R Soc Trop Med Hyg"},{"key":"ref_5","first-page":"74","article-title":"Gene analysis in the thalassaemias","author":"Weatherall, D.J.","year":"1983","unstructured":"Old JM, Higgs DR. Gene analysis in the thalassaemias. In: Weatherall DJ, ed. The thalassemias. Edinburgh: Churchill Livingstone, 1983:74-102."},{"key":"ref_6","first-page":"744","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, 1981:744-69.","edition":"3rd ed"},{"key":"ref_7","article-title":"Practical haematology","author":"Dacie, J.V.; Lewis, S.M.","year":"1975","unstructured":"Dacie JV, Lewis SM. Practical haematology. 5th ed. London: Churchill Livingstone, 1975.","edition":"5th ed"},{"key":"ref_8","first-page":"54","article-title":"Haemoglobin synthesis","volume-title":"The thalassemias","author":"Clegg, J.B.","year":"1983","unstructured":"Clegg JB. Haemoglobin synthesis. In: Weatherall DJ, ed. The thalassemias. Edinburgh: Churchill Livingstone, 1983:54-73."},{"key":"ref_9","first-page":"\"149","article-title":"Neonatal screening of,1 thalassemia by thin layer isoelectric focussing","volume":"13","author":"Cossu, G.; Maria, M.; Gavina Pirastu, M.","year":"1982","unstructured":"Cossu G, Maria M, Gavina Pirastu M, et al. Neonatal screening of,1 thalassemia by thin layer isoelectric focussing. Am J Hematol 1982;13:149-57. \" Kanavakis E, Wainscoat JS, Wood WG, et al. The interaction of a thalassaemia with heterozygous f3 thalassaemia. Br J Haematol 1982;52:465-73.","journal-title":"Am J Hematol; Kanavakis E, Wainscoat JS, Wood WG, et al. The interaction of a thalassaemia with heterozygous f3 thalassaemia"},{"issue":"3","key":"ref_10","first-page":"593","article-title":"Molecular characterisation of seven, I thalassaemia mutations in Asian Indians","volume":"1984","author":"Orkin, S.H.; Antonarakis, S.E.; Sexton, J.P.; Boehm, C.D.; Goff, S.C.; Waber, P.G.","unstructured":"Orkin SH, Antonarakis SE, Sexton JP, Boehm CD, Goff SC, Waber PG. Molecular characterisation of seven,I thalassaemia mutations in Asian Indians. EMBO J 1984:3:593-6.","journal-title":"EMBO J"},{"key":"ref_11","first-page":"2821","article-title":"Specific transcription and RNA splicing defects in five cloned,1 thalassaemia genes","volume":"81","author":"Treisman, R.; Orkin, S.H.; Maniatis, T.","year":"1983","unstructured":"Treisman R, Orkin SH, Maniatis T. Specific transcription and RNA splicing defects in five cloned,1 thalassaemia genes. Nature 1983;302:591-6. '3 Cheng T, Orkin SH, Antonarakis SE, et al.,1 thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridisation in systematic characterisation of molecular defects. Proc Natl Acad Sci USA 1984;81:2821-5.","journal-title":"Nature; systematic characterisation of molecular defects. Proc Natl Acad Sci; 302: 591-6. '3 Cheng T, Orkin SH, Antonarakis SE, et al.,1 thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridisation"},{"key":"ref_12","first-page":"33","article-title":"Prenatal diagnosis of inherited blood diseases. Clin Haematol 1985; 14: 747-74. '5 Thein SL, Wallace RB. The use of synthetic oligonucleotides as specific hybridisation probes in the diagnosis of genetic disorders","volume-title":"genetic diseases","author":"Weatherall, D.J.","year":"1986","unstructured":"Weatherall DJ. Prenatal diagnosis of inherited blood diseases. Clin Haematol 1985;14:747-74. '5 Thein SL, Wallace RB. The use of synthetic oligonucleotides as specific hybridisation probes in the diagnosis of genetic disorders. In: Davies KE, ed. Human genetic diseases. Oxford: IRL Press, 1986: 33-50."},{"key":"ref_13","first-page":"1","article-title":"Fetal DNA analysis","volume-title":"genetic diseases","author":"Old, J.M.","year":"1986","unstructured":"Old JM. Fetal DNA analysis. In: Davies KE, ed. Human genetic diseases. Oxford: IRL Press, 1986: 1-17."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.6.357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:29:50Z","timestamp":1760725790000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.6.357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,6]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1987,6,1]]},"published-print":{"date-parts":[[1987,6]]}},"alternative-id":["10.1136\/jmg.24.6.357"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.6.357","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1987,6]]}}}