{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:48:54Z","timestamp":1760730534760,"version":"build-2065373602"},"reference-count":25,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,10]]},"abstract":"<jats:p>A haemoglobin survey carried out in southern Sardinian newborn infants showed an overall incidence of 12.9% with haemoglobin Bart's of more than 1%. The distribution was trimodal: low (1 to 2%), intermediate (2 to 10%), and high (about 25%). A considerable overlap was seen between the first two groups. Both the 1 to 2% and 2 to 10% groups had thalassaemia-like red cell indices at birth. Newborn infants ascertained as having alpha-thalassaemia at follow-up did not necessarily have unbalanced alpha\/non-alpha chain synthesis at birth. At follow-up examination two subjects in the 25% group had developed haemoglobin H disease, and the 2 to 10% group had thalassaemia-like red cell indices and unbalanced globin chain synthesis ratios indicative of heterozygous alpha-thalassaemia. The 1 to 2% group either had normal or slightly reduced alpha-chain synthesis ratios, indicative of the silent alpha-thalassaemia carrier state. Two subjects with 2.0% and 2.5% haemoglobin Bart's at birth had heterozygous beta-thalassaemia at follow-up. Therefore, they were double heterozygotes for alpha- and beta-thalassaemia with alpha\/beta-globin chain synthesis ratios of 0.81 and 0.86. Genotype assessment in a few families showed that infants with haemoglobin Bart's levels of more than 2% may have one of the genotypes --alpha\/ --alpha or -- --\/alpha alpha.<\/jats:p>","DOI":"10.1136\/jmg.17.5.357","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"357-362","source":"Crossref","is-referenced-by-count":4,"title":["alpha-Thalassaemia in Sardinian infants."],"prefix":"10.1136","volume":"17","author":[{"given":"R","family":"Galanello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Diana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Furbetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Angius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Melis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Rosatelli","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":[[1980,10,1]]},"reference":[{"key":"ref_1","article-title":"The thalassaemia syndromes","author":"Weatherall, D.J.; Clegg, J.B.","year":"1972","unstructured":"Weatherall DJ, Clegg JB. 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