Gilbert syndrome in a young boy with thalassemia trait: a rare association


  • Debashree Priyadarshini Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
  • Amit Kumar Satapathy Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
  • Samarendra Mahapatro Department of Pediatrics, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India



Gilbert syndrome, Hyperbilirubinemia, Rifampicin test, Thalassemia trait, Uridine diphosphate glucuronyl transferase


Gilbert syndrome (GS) is a mild benign disease characterized by asymptomatic unconjugated hyperbilirubinemia in absence of liver disease or hemolysis. This is the most common disorder associated with bilirubin metabolism with autosomal recessive inheritance. It usually precipitates during episodes of dehydration, fasting or stress like intercurrent illnesses. Here, we are reporting a case of Gilbert syndrome in 12 yrs old boy with thalassemia trait who presented with history of persistent jaundice for last 10 months. He had disproportionately higher concentration of unconjugated bilirubin which cannot be attributed to either disorder alone. Authors considered the possibility of Gilbert syndrome after ruling out hemolytic anemia. Though genetic testing is considered to be gold standard for diagnosis of Gilbert syndrome but availability is an issue. Calorie restriction test and nicotinic acid provocation test has been used to confirm GS too. Rifampicin test, another simple test which has been described in literature though not widely used in diagnosis. It has high sensitivity and specificity too. Authors had performed rifampicin test in our index case to confirm the diagnosis of GS. Here, authors wish to highlight the patients with both GS and thalassemia trait has higher bilirubin concentrations and is more likely to be icteric than either defect alone.


Nath JD. Familial association of gilberts and beta thalassemia trait. Chattagram Maa-O-Shishu Hospital Med Coll J. 2014;13(1):65-6.

Avasthi R, Agarwal S, Ram BK. Gilbert’s syndrome. J Indian Med Association. 1995;93:403.

Sampietro M, Lupica L, Perrero L, Comino A, Martinez di Montemuros F, Cappellini MD, et al. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous β‐thalassaemia and in glucose‐6‐phosphate dehydrogenase deficiency. Br J Haematol. 1997;99(2):437-9.

Panda D Berk, Allan W Wolkoff. Bilirubin metabolism and hyperbilirubinemias. In: Braunwald, Fauci, Kasper et al (Eds.) Harrison’s Principles of Internal Medicine, 15th edn., Philadelphia, McGraw Hills Company. 2001;1715-20.

Gilbert A. La cholemie simple familiare. Semin Med. 1901; 21: 241-3.

Arias IM. Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults. J Clin Invest. 1962;41:2233-45.

Aono S, Keino H, Yamada Y, Adachi Y, Nanno T, Uyama E, et al. Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndrome. Lancet. 1995;345(8955):958-9.

Owens D, Sherlock S. Diagnosis of Gilbert’s syndrome: Role of reduced calorie intake test. Br Med J. 1973;3:559-63.

Ohkubo H, Musha H, Okuda K. Studies on nicotinic acid interaction with bilirubin metabolism. Dig Dis Sci. 1979 Sep 1;24(9):700-4.

Murthy GD, Byron D, Shoemaker D, Visweswaraiah H, Pasquale D. The utility of rifampin in diagnosing Gilbert's syndrome. The Am J Gastroenterol. 2001;96(4):1150.






Case Reports