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ISSN-2155-9929

Journal of Molecular Biomarkers & Diagnosis
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Research Article

Clinical Variability among Patients with Gilbert Syndrome

Leila Chaouch1*, Imen Darragi2, Emna Barkaoui1, Slim Ben Ammar1, Dorra Chaouachi1, Imen Boudrigua1and Salem Abbes1

1University of Tunis El Manar, Pasteur of Molecular and Cellular Hematology Institute of Tunis, Laboratory, Tunis, Tunisia

2University of Tunis El Manar, Hospital of Traumatology and Great Brulés, Department of Biochemistry, Ben Arous, Tunisia

*Corresponding Author:
Leila Chaouch
Pasteur of Molecular and Cellular
Hematology Institute of Tunis, Tunisia
Tel: 71.873.366
Fax: 71.872.055
E-mail: [email protected]

Received Date: September 29, 2014; Accepted Date: October 31, 2014; Published Date: November 03, 2014

Citation: Chaouch L, Darragi I, Barkaoui E, Ammar SB, Chaouachi D, et al. (2014) Clinical Variability among Patients with Gilbert Syndrome. J Mol Biomark Diagn 6:201. doi:10.4172/2155-9929.1000201

Copyright: © 2014 Chaouch L, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Introduction: Gilbert syndrome (GS) is due to a defect in uridine diphosphate glucuronosyl transferase (UGT1A1) gene and belongs to the group of the most common human metabolic disorders and is characterized by an elevated level of bilirubin in blood serum. Genotyping functional polymorphisms in UGT1A1 gene is an important step in the determination of the etiology of free hyperbilirubinemia of unknown origin. Herein, we aimed to explain the genetic profile and the clinical variability of this disease in Tunisian patients.

Material and methods: We explored a total of 30 subjects including 7 unrelated isolated cases and 23 subjects distributed to 7 families. The exploration of these subjects included the genotyping of two Functional polymorphisms of UGT1A1 gene associated with GS namely: A(TA)nTAA and G71R, the bilirubin level, the hematological parameters, the determination of glucose-6-phosphate dehydrogenase activity (G6PD) and echo dense images within the gall bladder with acoustic shadowing or gravitational change in position.

Results: The exploration of the hematological parameters showed that all subjects enrolled in this study are out of hemolytic disease with the exception of two individuals, it is a father and his son who have a profile of a β thalassemia minor. The exploration of G6PD activity showed that all patients presented normal values. All patients presented hyperbilirubinemia among whom some patients presented benign asymptomatic jaundice, two patients presented kernicterus and 4 patients presented cholelithiasis. The genetic profile studied of UGT1A1 revealed that the mutant allele A of the G71R polymorphism was absent for all subjects and that the genotype (TA)7/(TA)7 was associated with hyperbilirubinemia and with GS.

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