{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T15:25:00Z","timestamp":1765553100995,"version":"3.48.0"},"reference-count":23,"publisher":"BMJ","issue":"6478","license":[{"start":{"date-parts":[[1985,5,4]],"date-time":"1985-05-04T00:00:00Z","timestamp":484012800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.bmj.com\/company\/legal-information\/terms-conditions\/legal-information\/tdm-licencepolicy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br Med J (Clin Res Ed)"],"published-print":{"date-parts":[[1985,5,4]]},"abstract":"<jats:p>Although alpha thalassaemia is rare in north Europeans, it has been identified in British people with no known foreign ancestry. Twelve such patients were studied, of whom eight shared a distinctive molecular defect, which was clearly different from defects seen in subjects of Mediterranean or South East Asian origin. A rare but specific form of alpha thalassaemia is therefore present in the British population. In addition, two patients from families of mixed racial origin were encountered who had a moderately severe form of thalassaemia (HbH disease) due to the inheritance of one form of alpha thalassaemia from the British parent and another type from the foreign parent. This shows the importance of careful genetic counselling of British patients with haematological findings of thalassaemia.<\/jats:p>","DOI":"10.1136\/bmj.290.6478.1303","type":"journal-article","created":{"date-parts":[[2009,4,2]],"date-time":"2009-04-02T11:00:59Z","timestamp":1238670059000},"page":"1303-1306","source":"Crossref","is-referenced-by-count":28,"title":["Alpha thalassaemia in British people."],"prefix":"10.1136","volume":"290","author":[{"given":"D R","family":"Higgs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Ayyub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J B","family":"Clegg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A V","family":"Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R D","family":"Nicholls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Teal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J S","family":"Wainscoat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D J","family":"Weatherall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,5,4]]},"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","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/0092-8674(77)90198-2","article-title":"Localisation of the human x globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridisation assay","volume":"12","author":"Deisseroth, A.; Nienhuis, A.; Turner, P.","year":"1977","unstructured":"Deisseroth A, Nienhuis A, Turner P, et al. Localisation of the human x globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridisation assay. 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Br Medy 1964;i:36-8.","journal-title":"Br Medy"},{"key":"ref_11","first-page":"150","volume":"3","author":"Knox-Macaulay, H.H.M.; Weatherall, D.J.; Clegg, J.B.; Pembrey, M.E.","year":"1970","unstructured":"Knox-Macaulay HHM, Weatherall DJ, Clegg JB, Pembrey ME. Thalassaemia in the British. Br Med 3 1970;iii: 150-5.","journal-title":"Thalassaemia in the British. Br Med"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1111\/j.1365-2141.1982.tb03904.x","article-title":"The significance of haemoglobin H in patients with mental retardation or myeloproliferative disease. Br3'","volume":"52","author":"Weatherall, D.J.; Higgs, D.R.; Wood, W.G.; Clegg, J.B.","year":"1982","unstructured":"Weatherall DJ, Higgs DR, Wood WG, Clegg JB. The significance of haemoglobin H in patients with mental retardation or myeloproliferative disease. 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Proc Natl Acad Sci","volume":"77","author":"Pressley, L.; Higgs, D.R.; Clegg, J.B.; Weatherall, D.J.","year":"1980","unstructured":"Pressley L, Higgs DR, Clegg JB, Weatherall DJ. Gene deletions in x thalassemia prove that the 5 - locus is functional. Proc Natl Acad Sci USA 1980;77: 3586-9."},{"article-title":"Molecular rearrangements of the human ce-globin gene cluster","author":"Higgs, D.R.; Hill, A.V.S.; Nicholls, R.","key":"ref_20","unstructured":"Higgs DR, Hill AVS, Nicholls R, et al. Molecular rearrangements of the human ce-globin gene cluster. Ann NY Acad Sci (in press)."},{"key":"ref_21","article-title":"ac-thalassemia due to recombination between the al globin gene and an Alu I repeat","author":"Nicholls, R.N.; Higgs, D.R.; Clegg, J.B.; Weatherall, D.J.","year":"1985","unstructured":"Nicholls RN, Higgs DR, Clegg JB, Weatherall DJ. ac-thalassemia due to recombination between the al globin gene and an Alu I repeat. Blood (in press). 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