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KMID : 1103920100160030321
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Korean Journal of Hepatology
2010 Volume.16 No. 3 p.321 ~ p.324
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A case of concomitant Gilbert’s syndrome and hereditary spherocytosis
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Lee Hee-Jung
Moon Hee-Seok
Lee Eaum-Seok
Kim Seok-Hyun
Sung Jae-Kyu
Lee Byung-Seok
Jeong Hyun-Yong
Lee Heon-Young
Eu Young-Jae
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Abstract
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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.
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KEYWORD
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Hereditary spherocytosis, Gilbert’s syndrome, UGT1A1
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