Cholelithiasis in thalassemia major.
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.
Origa
Raffaella
R
Ospedale Regionale per le Microcitemie, ASL Cagliari, Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, Cagliari, Italy.
Galanello
Renzo
R
Perseu
Lucia
L
Tavazzi
Dario
D
Domenica Cappellini
M
M
Terenzani
Laura
L
Forni
Gian Luca
GL
Quarta
Giovanni
G
Boetti
Tatiana
T
Piga
Antonio
A
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
D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme