kjh The Korean Journal of Hematology Korean J Hematol 1738-7949 2092-9129 Korean Society of Hematology 10.5045/kjh.2008.43.1.58 kjh-43-58 Case Report A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome LimJi WhanM.D. 1 ChoiJoon HyoukM.D. 1 NamYang HoonM.D. 1 SeoIn SeokM.D. 1 YoonSeong MinM.D. 3 KooMyoung SookM.D. 2 Department of Internal Medicine, Korea Department of Laboratory Medicine, Seoul Medical Center, Seoul, Korea Department of Internal Medicine, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea Correspondence to：Seong Min Yoon, M.D. Department of Internal Medicine, Inje University Ilsan Paik Hospital 2240, Daehwa-dong, Ilsanseo-gu, Goyang 411-706, Korea Tel: ＋82-31-910-7206, Fax: ＋82-31-910-7219 E-mail: ysm0530@hanmail.net 32008 1932008 43158 61 01102007 14012008 19012008 Copyright © 2008 Korean Society of Hematology 2008 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Congenital hemolytic anemia is mainly developed due to intrinsic defects of erythrocytes, but in some cases the cause of hemolytic anemia is unclear. Gilbert's syndrome shows mild, chronic unconjugated hyperbilirubinemia that is due to reduced UDP glucuronosyltransferase (UGT-1A1) activity and this develops because of UGT-1A1 gene mutation. We report here on a case of severe hyperbilirubinemia in a 17-year-old male who was diagnosed with congenital hemolytic anemia of an unknown cause combined with Gilbert's syndrome.

 Hemolytic anemia Gilbert's syndrome Hyperbilirubinemia REFERENCESHah JO Hemolytic anemia in pediatrics Korean J Pediatr 200750 5118 Ahn DH Sohn KC Kang IJ Statistical analysis of hemolytic anemia in Korea Korean J Hematol 199126 44561 Kwon HS Kang JC Won SC Oh SH Lyu CJ A clinical study of childhood hemolytic anemia according to etiological classification Korean J Pediatr 200346 8838 Bosma PJ Chowdhury NR Goldhoorn BG Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type 1 Hepatology 199215 9417 Onishi S Kawade N Itoh S Isobe K sugiyama S Postnatal development of uridine diphosphate glucuronosyltransferase activity towards bilirubin and 2-aminophenol in human liver Biochem J 1979184 7057 Bosma PJ Chowdhury JR Bakker C The genetics basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome N Engl J Med 1995333 11715 Burchell B Hume R Molecular genetic basis of Gilbert's syndrome J Gastroenterol Hepatol 199614 9606 Kim YH Yeon JE Jung GM A study of polymorphism in UDP-glucurono glucuronosyltransferase 1 (UGT-1A1) promoter gene in korean patients with Gilbert's syndrome Korean J Hepatol 20028 1328 Sugita K Maruo Y Kurosawa H Severe hyperbilirubinemia in a 10-year-old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome Pediatr Int 200749 5402 Choi KB Han KS Kim MK A case of Gilberts syndrome with hemolysis Ewha Med J 19858 6975 Powell LW Billing BH Williams HS An assessment of red cell survival in idiopathic unconjugated hy-perbilirubinaemia (Gilbert's syndrome) by the use of radioactive isopropylfluorophosphate and chromium Australas Ann Med 196716 2215 Powell LW Hemingway E Billing BH Sherlock S Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families N Engl J Med 1967227 110812 Berk PD Blaschke TF Detection of Gilbert's syndrome in patients with hemolysis. A method using radioactive chromium Ann Int Med 197277 52731 Figures and Tables

Normoblast and basophilic stippling are shown on peripheral blood smear (Wright-Giemsa stain, ×1,000).

The chage of total bilirubin and hemoglobin levels after splenectomy.

UGT1A1 gene genotyping

Region NT# Wild Mutant Observed Seq Allele designation
Promotor −53∼42 (TA)6 (TA)7 (TA)7/(TA)7 ∗28/∗28
Promotor −3156 G A A/A ‒
Promotor −3279 T G G/G ‒