title: Gilbert syndrome acts as a risk factor of developing gallstone among β hemoglobinopathy Tunisian patients.
abstract: BACKGROUND
  As a result of chronic hemolysis, hyperbilirubinemia is often observed, leading to the formation of pigment cholelithiasis which could be busted by the presence of uridine diphosphoglucuronosyltransferase 1A1 defects.
  
  
  OBJECTIVE
  Herein, we investigated the effect of glibert mutation on the occurrence of pigment cholelithiasis in Tunisian patients with beta (β) hemoglobinopathy including sickle cell anemia and β thalassemia (minor).
  
  
  METHODS
  Our study included 151 subjects divided in 75 SCA patients and 76 β thalassemia patients. Both groups of patients were divided into two sub-groups according to the presence or absence of cholelithiasis. The relationship between A(TA)nTAA variation of UGT1A1 gene, the serum bilirubin level and the occurrence of cholilithiasis was investigated.
  
  
  RESULTS
  Our results show a significant association between genotypes carrying variant (TA)7 and hyperbilirubinemia (p<0.05). Furthermore, we demonstrated a significant association between (TA)6/(TA)7 and (TA)7/(TA)7 genotypes with cholelithiasis among sickle cell anemia and thalassemia patients (p<0.05).
  
  
  CONCLUSIONS
  Altogether, our data provide evidence that genotypes (TA)6/(TA)7 and (TA)7/(TA)7 and (TA)7 variant present a risk factor of developing gallstone among β hemoglobinopathy Tunisian patients.
authors.forename: Leila
authors.initials: L
authors.lastname: Chaouch
authors.forename: Miniar
authors.initials: M
authors.lastname: Kalai
authors.forename: Dorra
authors.initials: D
authors.lastname: Chaouachi
authors.forename: Fethi
authors.initials: F
authors.lastname: Mallouli
authors.forename: Raouf
authors.initials: R
authors.lastname: Hafsia
authors.forename: Slim
authors.initials: S
authors.lastname: Ben Ammar
authors.forename: Salem
authors.initials: S
authors.lastname: Abbes
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics / Q000503:physiopathology*; D001663:Bilirubin / Q000097:blood; D005260:Female; D042882:Gallstones / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics; D005838:Genotype; D005878:Gilbert Disease / Q000150:complications*; D014453:Glucuronosyltransferase / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics / Q000503:physiopathology*; D000099148:UGT1A1 Enzyme
chemical_list: D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme