A case of concomitant Gilbert's syndrome and hereditary spherocytosis

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilbert's syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.

[1]  Sayeeda Huq,et al.  Hereditary Spherocytosis , 2010, Journal of health, population, and nutrition.

[2]  Ji Sook Kim,et al.  The relationship between Gly71Arg and TATA box polymorphism of UGT1A1 gene and prolonged hyperbilirubinemia of breast milk feeding infant in Korean , 2008 .

[3]  J. Miners,et al.  Influence of mutations associated with Gilbert and Crigler–Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates , 2007, Pharmacogenetics and genomics.

[4]  H. Ideguchi,et al.  Severe hyperbilirubinemia in a 10‐year‐old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome , 2007, Pediatrics international : official journal of the Japan Pediatric Society.

[5]  Qiang Wu,et al.  Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes , 2007, BMC Evolutionary Biology.

[6]  M. Kaito,et al.  Linkage disequilibrium of UGT1A1 *6 and UGT1A1 *28 in relation to UGT1A6 and UGT1A7 polymorphisms. , 2006, Oncology Report.

[7]  A. Mori,et al.  Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome , 2004, Human Genetics.

[8]  M. Patlas,et al.  Increased Prevalence of Cholelithiasis in Gaucher Disease: Association With Splenectomy but Not with Gilbert Syndrome , 2004, Journal of clinical gastroenterology.

[9]  J. Yeon,et al.  [A study of polymorphism in UDP-glucuronosyltransferase 1 (UGT-1A1) promoter gene in Korean patients with Gilbert's syndrome]. , 2002, Taehan Kan Hakhoe chi = The Korean journal of hepatology.

[10]  N. Mohandas,et al.  Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosis. , 2001, Blood.

[11]  M. Hur,et al.  Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis. , 2000, Journal of Korean medical science.

[12]  M. Hur,et al.  SDS-PAGE Analysis of Red Cell Membrane Proteins in Hereditary Hemolytic Anemia , 1999 .

[13]  C. Specchia,et al.  Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. , 1999, Blood.

[14]  A. Iolascon,et al.  Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. , 1999, Haematologica.

[15]  S. Vukelja,et al.  Gilbert's syndrome co-existing with and masking hereditary spherocytosis , 1997, Annals of Hematology.