Cholelithiasis in thalassemia major

Eur J Haematol. 2009 Jan;82(1):22-5. doi: 10.1111/j.1600-0609.2008.01162.x. Epub 2008 Oct 31.


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.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cholelithiasis / complications*
  • Cholelithiasis / enzymology*
  • Cholelithiasis / epidemiology
  • Cholelithiasis / genetics
  • Disease-Free Survival
  • Female
  • Genotype
  • Glucuronosyltransferase / genetics
  • Glucuronosyltransferase / metabolism
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Thalassemia / complications*
  • Thalassemia / enzymology*
  • Thalassemia / epidemiology
  • Thalassemia / genetics


  • UGT1A1 enzyme
  • Glucuronosyltransferase