Related Experiment Video
Updated: Jun 27, 2026

A Two-Step Method for Percutaneous Transhepatic Choledochoscopic Lithotomy
Published on: September 13, 2022
Cholelithiasis in thalassemia major
Raffaella Origa1, Renzo Galanello, Lucia Perseu
1Ospedale Regionale per le Microcitemie, ASL Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Cagliari, Italy.
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.
Related Concept Videos
Cholecystitis
Portal Hypertension
Urinary Tract Calculi VI: Surgical Management
Cirrhosis I: Introduction
Diseases of the Liver and Gallbladder
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Urinary Tract Calculi III: Medical Management