Korean J Hepatol.  2010 Sep;16(3):321-324. 10.3350/kjhep.2010.16.3.321.

A case of concomitant Gilbert's syndrome and hereditary spherocytosis

• Lee HJ
• Moon HS
• Lee ES
• Kim SH
• Sung JK
• Lee BS
• Jeong HY
• Lee HY
• Eu YJ

• KMID: 1717328
• DOI: http://doi.org/10.3350/kjhep.2010.16.3.321

Abstract

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.

Keyword

Hereditary spherocytosis; Gilbert's syndrome; UGT1A1

MeSH Terms

Adult
Alleles
Ankyrins/metabolism
Electrophoresis, Polyacrylamide Gel
Gallstones/surgery
Gilbert Disease/complications/*diagnosis/genetics
Glucuronosyltransferase/chemistry/genetics/metabolism
Heterozygote
Humans
Male
Mutation
Protein Structure, Tertiary
Sequence Analysis, DNA
Spherocytosis, Hereditary/complications/*diagnosis/genetics
Splenomegaly/diagnosis