{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T13:44:35Z","timestamp":1773755075079,"version":"3.50.1"},"reference-count":0,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,10,29]],"date-time":"2003-10-29T00:00:00Z","timestamp":1067385600000},"content-version":"vor","delay-in-days":2188,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[1997,11]]},"abstract":"<jats:p>The reasons why heterozygotes for \u03b2\u2010thalassaemia have considerable variation in serum bilirubin levels are unkown. High levels of bilirubin could be related to the co\u2010inherited Gilbert's syndrome, determined either by mutations of the coding region or by variation in the A(TA)<jats:sub>n<\/jats:sub>TAA motif of the promoter of the bilirubin UDP\u2010glucuronosyltransferase gene (UGT\u20101). We sequenced the coding and the promoter region of UGT\u20101A or characterized the A(TA)nTAA motif of the promoter by denaturing gel electrophoresis of radioactive amplified products. The results were correlated with bilirubin levels in 49 \u03b2\u2010thalassaemia heterozygotes for codon 39 (CAG\u2003\u2192\u2003TAG) nonsense mutation. 21 normal individuals and 32 unrelated patients with Gilbert's syndrome served as controls. The coding sequence region of the UGT\u20101A was normal. Five \u03b2\u2010thalassaemia heterozygotes, who were homozygous for the extra (TA) bases in the A(TA)<jats:sub>n<\/jats:sub>TAA element of the promoter of UGT\u20101A, the configuration present in homozygosity in Gilbert's syndrome, had higher bilirubin levels compared to those with the (TA)<jats:sub>6<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub> or (TA)<jats:sub>6<\/jats:sub>\/(TA)<jats:sub>6<\/jats:sub> configurations.<\/jats:p><jats:p>In the group of 32 patients with Gilbert's syndrome, 31 of whom had the (TA)<jats:sub>7<\/jats:sub>\/(TA)<jats:sub>7<\/jats:sub> configuration, we detected 14 heterozygotes for \u03b2\u2010thalassaemia, a figure much higher than predicted on the basis of the carrier rate. Homozygosity for the (TA)<jats:sub>7<\/jats:sub> motif, the typical promoter configuration of Gilbert's syndrome, is one of the factors determining hyperbilirubinaemia in heterozygous \u03b2\u2010thalassaemia.<\/jats:p>","DOI":"10.1046\/j.1365-2141.1997.3703182.x","type":"journal-article","created":{"date-parts":[[2003,11,6]],"date-time":"2003-11-06T15:22:27Z","timestamp":1068132147000},"page":"433-436","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["Hyperbilirubinaemia in heterozygous \u03b2\u2010thalassaemia is related to co\u2010inherited Gilbert's syndrome"],"prefix":"10.1111","volume":"99","author":[{"given":"R.","family":"Galanello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Perseu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A.","family":"Melis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Cipollina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Barella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Giagu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. P.","family":"Turco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Maccioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,29]]},"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1046%2Fj.1365-2141.1997.3703182.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1046\/j.1365-2141.1997.3703182.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T11:22:51Z","timestamp":1694431371000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1046\/j.1365-2141.1997.3703182.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,11]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,11]]}},"alternative-id":["10.1046\/j.1365-2141.1997.3703182.x"],"URL":"https:\/\/doi.org\/10.1046\/j.1365-2141.1997.3703182.x","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,11]]},"assertion":[{"value":"2003-10-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}