Tzetis M, Kanavakis E, Tsezou A, Ladis V, Pateraki E, Georgakopoulou T, Kavazarakis E, Maragoudaki E, Karpathios T, Kitsiou-Tzeli S
Medical Genetics, University of Athens, Aghia Sophia Children's Hospital, Greece.
Pediatr Hematol Oncol. 2001 Dec;18(8):477-84. doi: 10.1080/088800101753328439.
The authors investigated whether the considerable variability in serum bilirubin levels (STB) found in transfusion-dependent beta-thalassemia, beta-thal intermedia, and heterozygous beta-thalassemia individuals could be related to the coexistence of Gilbert syndrome (GS). The promoter region [A(TA)nTAA] of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) was analyzed in a total of 128 beta-thalassemia individuals (108 transfusion-dependent beta-thal patients, 20 very mild beta-thal intermedia) and in 33 beta-thal heterozygotes. The control group consisted of 70 healthy children with no history of anemia. The frequency of GS genotype (TA)7/(TA)7 did not differ significantly between the groups studied. A significant difference was observed between serum bilirubin levels (STB) and GS genotypes (TA)7/(TA)7 and (TA)6/(TA)7 and also between (TA)7/(TA)7 and (TA)6/(TA)6 for all groups examined. These results confirm that the (TA)7/(TA)7 GS genotype is one of the factors accounting for the hyperbilirubinemia observed in beta-thalassemia major, intermedia, and heterozygous individuals.
作者们研究了在依赖输血的β地中海贫血、中间型β地中海贫血和杂合子β地中海贫血个体中发现的血清胆红素水平（总胆红素）的显著变异性是否可能与吉尔伯特综合征（GS）的共存有关。对总共128例β地中海贫血个体（108例依赖输血的β地中海贫血患者、20例极轻型中间型β地中海贫血）和33例β地中海贫血杂合子进行了胆红素UDP-葡萄糖醛酸基转移酶基因（UGT1A1）启动子区域[A(TA)nTAA]的分析。对照组由70名无贫血病史的健康儿童组成。所研究的各组之间，GS基因型(TA)7/(TA)7的频率没有显著差异。在所有检测组中，血清胆红素水平（总胆红素）与GS基因型(TA)7/(TA)7和(TA)6/(TA)7之间以及(TA)7/(TA)7和(TA)6/(TA)6之间均观察到显著差异。这些结果证实，(TA)7/(TA)7 GS基因型是导致重型、中间型和杂合子β地中海贫血个体出现高胆红素血症的因素之一。
