Cholelithiasis in thalassemia major.

Authors :: Origa R
Galanello R
Perseu L
Tavazzi D
Domenica Cappellini M
Terenzani L
Forni GL
Quarta G
Boetti T
Piga A
Source :: European journal of haematology [Eur J Haematol] 2009 Jan; Vol. 82 (1), pp. 22-5. Date of Electronic Publication: 2008 Oct 31.
Publication Year :: 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).<br />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.<br />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.<br />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.