Chaar Vicky, Kéclard Lysiane, Etienne-Julan Maryse, Diara Jean Pierre, Elion Jacques, Krishnamoorthy Rajagopal, Romana Marc
UMR S-458 INSERM/Université des Antilles et de la Guyane, CHU de Pointe-à-Pitre, Guadeloupe, French West Indies.
Am J Hematol. 2006 May;81(5):377-9. doi: 10.1002/ajh.20574.
Enhanced erythrocyte destruction in sickle cell anemia results in chronic hyperbilirubinemia. Only a subset of patients develop cholelithiasis. UGT1A1 promoter polymorphism is associated both with unconjugated bilirubin level and elevated risk for cholelithiasis in such subset. Here, we investigated the role of alpha-thalassemia, yet another genetic factor that modulates hemolysis, in conferring protection from cholelithiasis. We show that, although alpha-thalassemia is associated with modest reduction in hemolysis and unconjugated bilirubin level, UGT1A1 polymorphism outweighs its effect on cholethiogenesis in sickle cell anemia patients.
镰状细胞贫血中红细胞破坏增强导致慢性高胆红素血症。只有一部分患者会发生胆石症。UGT1A1启动子多态性与未结合胆红素水平以及该亚组中胆石症风险升高均相关。在此，我们研究了α地中海贫血这一另一个调节溶血的遗传因素在预防胆石症方面的作用。我们发现，虽然α地中海贫血与溶血及未结合胆红素水平适度降低相关，但在镰状细胞贫血患者中，UGT1A1多态性对胆石形成的影响超过了α地中海贫血的作用。
