de Azevedo Laura Alencastro, Bonazzoni Joyce, Wagner Sandrine Comparsi, Farias Mariela Granero, Bittar Christina M, Daudt Liane, de Castro Simone Martins
Faculdade de Farmácia, Universidade Federal do Rio Grande do Sul, Av. Ipiranga 2752, Porto Alegre, RS, 90610-000, Brazil.
Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.
Mol Diagn Ther. 2017 Aug;21(4):437-442. doi: 10.1007/s40291-017-0283-y.
Increased destruction of erythrocytes in patients with sickle cell disease results in chronic hyperbilirubinemia and leads to the formation of gallstones.
The objective of this study was to determine the combined influence of alpha thalassemia, fetal hemoglobin, and the UGT1A1 polymorphism on serum bilirubin levels and cholelithiasis in patients with sickle cell disease.
We analyzed 72 patients treated in the outpatient hematology unit of the Clinical Hospital of Porto Alegre. The alpha thalassemia trait was determined by multiplex polymerase chain reaction and the polymorphisms of UGT1A1 by capillary electrophoresis with tagged primers.
Total and indirect bilirubin levels differed significantly between genotypes TA7/TA7 and TA6/TA6 (p < 0.05). Bilirubin levels were influenced by the UGT1A1 polymorphism but not by alpha thalassemia and fetal hemoglobin. There was no association between cholelithiasis and any of the variables studied.
These preliminary findings suggest that the UGT1A1 gene can influence serum bilirubin levels in sickle cell anemia and serve as a tool to differentiate an acute hemolytic condition from a pre-existing condition of hyperbilirubinemia.
镰状细胞病患者红细胞破坏增加导致慢性高胆红素血症，并引发胆结石形成。
本研究的目的是确定α地中海贫血、胎儿血红蛋白和UGT1A1基因多态性对镰状细胞病患者血清胆红素水平和胆石症的综合影响。
我们分析了阿雷格里港临床医院门诊血液科治疗的72例患者。通过多重聚合酶链反应确定α地中海贫血特征，通过带标记引物的毛细管电泳确定UGT1A1基因多态性。
TA7/TA7和TA6/TA6基因型之间的总胆红素和间接胆红素水平差异显著（p < 0.05）。胆红素水平受UGT1A1基因多态性影响，但不受α地中海贫血和胎儿血红蛋白影响。胆石症与所研究的任何变量之间均无关联。
这些初步研究结果表明，UGT1A1基因可影响镰状细胞贫血患者的血清胆红素水平，并可作为区分急性溶血状态与既往存在的高胆红素血症状态的工具。
