Document Detail

The effect of UGT1A1 promoter polymorphism on bilirubin response to hydroxyurea therapy in hemoglobinopathies.
MedLine Citation:
PMID:  20709051     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: Hydroxyurea is known to reduce ineffective erythropoiesis and thereby hemolysis leading to a reduction in bilirubin levels in patients with hemoglobinopathies. However, the effect of hydroxyurea on hyperbilirubinemia in relation to the UGT1A1 gene promoter polymorphism is not known in Indian patients with different hemoglobinopathies.
DESIGN AND METHODS: We studied 112 patients (77 sickle cell anemia, 22 β-thalassemia intermedia and 13 HbE-β-thalassemia) who were on hydroxyurea therapy for 2 years for their response towards hyperbilirubinemia associated with UGT1A1 promoter polymorphism.
RESULTS: The patients with (TA)(7)/(TA)(7) repeats had significantly higher serum bilirubin levels than those with (TA)(6)/(TA)(6) repeats in all the groups and the reduction in serum bilirubin after hydroxyurea therapy was still higher among patients with (TA)(7)/(TA)(7) repeats when compared with (TA)(6)/(TA)(6) repeats.
CONCLUSIONS: Higher bilirubin levels were associated with the (TA)(7)/(TA)(7) sequence however they did not come down to normal levels after hydroxyurea therapy.
Khushnooma Y Italia; Farah F Jijina; Dipty Jain; Rashid Merchant; Anita H Nadkarni; Malay Mukherjee; Kanjaksha Ghosh; Roshan B Colah
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-13
Journal Detail:
Title:  Clinical biochemistry     Volume:  43     ISSN:  1873-2933     ISO Abbreviation:  Clin. Biochem.     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-10-11     Completed Date:  2011-01-20     Revised Date:  2014-03-28    
Medline Journal Info:
Nlm Unique ID:  0133660     Medline TA:  Clin Biochem     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1329-32     Citation Subset:  IM    
Copyright Information:
Copyright © 2010. Published by Elsevier Inc.
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MeSH Terms
Bilirubin / blood*
Gene Deletion
Glucuronosyltransferase / genetics*
Hemoglobinopathies / blood,  drug therapy*,  genetics*
Hydroxyurea / therapeutic use*
Polymorphism, Genetic*
Promoter Regions, Genetic*
Repetitive Sequences, Nucleic Acid / genetics
Young Adult
Reg. No./Substance:
EC 2.4.1.-/UGT1A1 enzyme; EC; RFM9X3LJ49/Bilirubin; X6Q56QN5QC/Hydroxyurea

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