| Analysis of the A(TA)(n)TAA configuration in the promoter region of the UGT1 A1 gene in Greek patients with thalassemia intermedia and sickle cell disease. | |
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MedLine Citation:
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PMID: 12850481 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Gilbert's syndrome is characterized by mild unconjugated hyperbilirubinemia. The molecular basis of this syndrome usually concerns an additional dinucleotide insertion (TA) in the A(TA)(n)TAA configuration residing in the promoter region of the UGT1 A1 gene. This configuration may vary in length; the "n" represents the different number of TA repeats. The homozygosity A(TA)(7)TAA/A(TA)(7)TAA is involved in Gilbert's syndrome. In many cases of patients with thalassemia intermedia and sickle cell disease considerable variation in bilirubin levels is observed. In this study we investigated the contribution of the A(TA)(7)TAA/A(TA)(7)TAA genotype in the variable unconjugated serum bilirubin levels in 31 Greek patients with thalassemia intermedia and 27 Greek compound heterozygotes for beta thalassemia and sickle cell anemia. Analysis of the A(TA)(n)TAA configuration in the promoter region of the latter patients showed that those who were carrying the homozygosity A(TA)(7)TAA/A(TA)(7)TAA had higher levels of unconjugated bilirubin. These findings suggest that the coexistence of Gilbert's syndrome in patients with thalassemia intermedia and sickle cell disease may be the cause of the elevated values of unconjugated bilirubin, reducing the possibility of excessive hemolysis in these patients. |
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Authors:
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Vassiliki Kalotychou; Katerina Antonatou; Revekka Tzanetea; Evaggelos Terpos; Dimitris Loukopoulos; Yannis Rombos |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Blood cells, molecules & diseases Volume: 31 ISSN: 1079-9796 ISO Abbreviation: Blood Cells Mol. Dis. Publication Date: 2003 Jul-Aug |
Date Detail:
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Created Date: 2003-07-09 Completed Date: 2004-04-30 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 9509932 Medline TA: Blood Cells Mol Dis Country: United States |
Other Details:
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Languages: eng Pagination: 38-42 Citation Subset: IM |
Affiliation:
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First Department of Medicine, University of Athens School of Medicine, Laikon General Hospital, 11527, Athens, Greece. vkalotyc@med.uoa.gr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Anemia, Sickle Cell / blood, complications, genetics* Bilirubin / blood Genotype Gilbert Disease / complications, genetics Glucuronosyltransferase / genetics* Greece Humans Hyperbilirubinemia / etiology, genetics Poly dA-dT / genetics* Promoter Regions, Genetic* Thalassemia / blood, complications, genetics* |
| Chemical | |
Reg. No./Substance:
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26966-61-0/Poly dA-dT; 635-65-4/Bilirubin; EC 2.4.1.-/bilirubin uridine-diphosphoglucuronosyl transferase 1A1; EC 2.4.1.17/Glucuronosyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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