title: Cholelithiasis in thalassemia major.
abstract: OBJECTIVE
  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.
authors.affiliation: Ospedale Regionale per le Microcitemie, ASL Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Cagliari, Italy.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Origa
authors.forename: Renzo
authors.initials: R
authors.lastname: Galanello
authors.forename: Lucia
authors.initials: L
authors.lastname: Perseu
authors.forename: Dario
authors.initials: D
authors.lastname: Tavazzi
authors.forename: M
authors.initials: M
authors.lastname: Domenica Cappellini
authors.forename: Laura
authors.initials: L
authors.lastname: Terenzani
authors.forename: Gian Luca
authors.initials: GL
authors.lastname: Forni
authors.forename: Giovanni
authors.initials: G
authors.lastname: Quarta
authors.forename: Tatiana
authors.initials: T
authors.lastname: Boetti
authors.forename: Antonio
authors.initials: A
authors.lastname: Piga
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002769:Cholelithiasis / Q000150:complications* / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics; D018572:Disease-Free Survival; D005260:Female; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D013789:Thalassemia / Q000150:complications* / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme