National Institute of Immunohaematology (ICMR), 13th Floor, N M S Bldg, KEM Hospital Campus, Parel, Mumbai 400 012, India.
Clin Biochem. 2010 Nov;43(16-17):1329-32. doi: 10.1016/j.clinbiochem.2010.08.006. Epub 2010 Aug 13.
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.
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.
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.
Higher bilirubin levels were associated with the (TA)(7)/(TA)(7) sequence however they did not come down to normal levels after hydroxyurea therapy.
羟脲已知可减少无效红细胞生成，从而导致血红蛋白病患者胆红素水平降低。然而，在印度不同血红蛋白病患者中，羟脲对 UGT1A1 基因启动子多态性相关高胆红素血症的影响尚不清楚。
我们研究了 112 名接受羟脲治疗 2 年的患者（77 名镰状细胞贫血、22 名中间β-地中海贫血和 13 名 HbE-β-地中海贫血），以了解 UGT1A1 启动子多态性相关高胆红素血症与羟脲治疗反应的关系。
在所有组中，(TA)(7)/(TA)(7)重复的患者血清胆红素水平明显高于(TA)(6)/(TA)(6)重复的患者，与(TA)(6)/(TA)(6)重复的患者相比，(TA)(7)/(TA)(7)重复的患者在接受羟脲治疗后血清胆红素降低幅度仍较高。
较高的胆红素水平与(TA)(7)/(TA)(7)序列相关，但在羟脲治疗后并未降至正常水平。
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