Origa Raffaella, Galanello Renzo, Perseu Lucia, Tavazzi Dario, Domenica Cappellini M, Terenzani Laura, Forni Gian Luca, Quarta Giovanni, Boetti Tatiana, Piga Antonio
Ospedale Regionale per le Microcitemie, ASL Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Cagliari, Italy.
Eur J Haematol. 2009 Jan;82(1):22-5. doi: 10.1111/j.1600-0609.2008.01162.x. Epub 2008 Oct 31.
Aim of this study was to evaluate prevalence and characteristics of cholelithiasis in a large population of patients with thalassemia major (TM).
Data from 858 consecutive patients with transfusion-dependent thalassemia at five major Italian centers were analyzed. In these centers, a complete abdomen ultrasonography is performed yearly after the beginning of the transfusion regimen. The role of co-inheriting Gilbert's syndrome genotype was investigated studying the promoter region of the UGT1-A1 gene by automated sequencing.
Thirty percent of TM patients had gallstones. The Gilbert's genotype [homozygosity for (TA)(7) motif at UGT1A promoter gene], influenced both the prevalence of cholelithiasis and the age at which it developed.
Cholelithiasis has a remarkable frequency and precocity in patients with TM and especially in those with (TA)(7)/(TA)(7) UGT1-A1 genotype. An early biliary ultrasonography is recommended from childhood and a closer follow-up in patients with thalassemia and associated Gilbert's syndrome may be indicated.
本研究旨在评估大量重型地中海贫血（TM）患者胆石症的患病率及特征。
对意大利五个主要中心的858例连续的输血依赖型地中海贫血患者的数据进行分析。在这些中心，输血方案开始后每年进行一次全腹超声检查。通过自动测序研究UGT1 - A1基因启动子区域，以调查共同遗传吉尔伯特综合征基因型的作用。
30%的TM患者有胆结石。吉尔伯特基因型[UGT1A启动子基因(TA)(7)基序纯合子]既影响胆石症的患病率，也影响其发病年龄。
胆石症在TM患者中发生率高且发病早，尤其是那些具有(TA)(7)/(TA)(7) UGT1 - A1基因型的患者。建议从儿童期开始进行早期胆道超声检查，对于地中海贫血合并吉尔伯特综合征的患者可能需要更密切的随访。
