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Lim, Choi, Nam, Seo, Yoon, and Koo: A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome
Case Report

Korean J Hematol 2008;43(1):58-61.

Published online: 19 March 2008

DOI: https://doi.org/10.5045/kjh.2008.43.1.58

A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome

Ji Whan Lim, M.D.1, Joon Hyouk Choi, M.D.1, Yang Hoon Nam, M.D.1, In Seok Seo, M.D.1, Seong Min Yoon, M.D.3, , Myoung Sook Koo, M.D.2

1Department of Internal Medicine, Korea

2Department of Laboratory Medicine, Seoul Medical Center, Seoul, Korea

3Department 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

Received 1 October 2007       Revised 14 January 2008       Accepted 19 January 2008

Copyright © 2008 Korean Society of Hematology

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.

Abstract

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.

Keywords: Hemolytic anemia, Gilbert's syndrome, Hyperbilirubinemia

REFERENCES

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Fig. 1
Normoblast and basophilic stippling are shown on peripheral blood smear (Wright-Giemsa stain, ×1,000).
kjh-43-58f1.tif
Fig. 2
The chage of total bilirubin and hemoglobin levels after splenectomy.
kjh-43-58f2.tif
Table 1.
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 ‒
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