Objectives: Aim of this study was to evaluate prevalence and characteristics of cholelithiasis in a large population of patients with thalassemia major (TM). Methods: 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. Results: 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. Conclusions: 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.
Cholelithiasis in thalassemia major / R. Origa, R. Galanello, L. Perseu, D. Tavazzi, M.D. Cappellini, L. Terenzani, G.L. Forni, G. Quarta, T. Boetti, A. Piga. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 0902-4441. - 82:1(2009 Jan), pp. 22-25. [10.1111/j.1600-0609.2008.01162.x]
Cholelithiasis in thalassemia major
D. Tavazzi;M.D. Cappellini;
2009
Abstract
Objectives: Aim of this study was to evaluate prevalence and characteristics of cholelithiasis in a large population of patients with thalassemia major (TM). Methods: 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. Results: 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. Conclusions: 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.Pubblicazioni consigliate
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