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Cholelithiasis in thalassemia major
Author(s) -
Origa Raffaella,
Galanello Renzo,
Perseu Lucia,
Tavazzi Dario,
Domenica Cappellini M.,
Terenzani Laura,
Forni Gian Luca,
Quarta Giovanni,
Boetti Tatiana,
Piga Antonio
Publication year - 2009
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2008.01162.x
Subject(s) - thalassemia , medicine , gallstones , genotype , ultrasonography , gastroenterology , pediatrics , population , gene , surgery , genetics , biology , environmental health
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.