The effect of UGT1A1 promoter polymorphism on bilirubin response to hydroxyurea therapy in hemoglobinopathies

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• 作者：Khushnooma Y. Italia ; Farah F. Jijina ; Dipty Jain ; Rashid Merchant ; Anita H. Nadkarni ; Malay Mukherjee ; Kanjaksha Ghosh ; Roshan B. Colah
• 关键词：UGT1A1 ; Hyperbilirubinemia ; Hydroxyurea ; Sickle cell anemia ; β ; -thalassemia intermedia ; HbE-β ; -thalassemia
• 刊名：Clinical Biochemistry
• 出版年：2010
• 出版时间：November 2010
• 年：2010
• 卷：43
• 期：16-17
• 页码：1329-1332
• 全文大小：188 K

文摘

<h4 class=""h4"">Objectivesh3>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.<h4 class=""h4"">Design and methodsh3>

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.<h4 class=""h4"">Resultsh3>

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.<h4 class=""h4"">Conclusionsh3>

Higher bilirubin levels were associated with the (TA)₇/(TA)₇ sequence however they did not come down to normal levels after hydroxyurea therapy.