A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome.
- Author:
Ji Whan LIM
1
;
Joon Hyouk CHOI
;
Yang Hoon NAM
;
In Seok SEO
;
Seong Min YOON
;
Myoung Sook KOO
Author Information
- Publication Type:Case Report
- Keywords: Hemolytic anemia; Gilbert's syndrome; Hyperbilirubinemia
- MeSH: Adolescent; Anemia, Hemolytic; Anemia, Hemolytic, Congenital; Erythrocytes; Gilbert Disease; Glucuronosyltransferase; Humans; Hyperbilirubinemia; Male
- From:Korean Journal of Hematology 2008;43(1):58-61
- CountryRepublic of Korea
- Language:Korean
- 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.
