Published online February 26, 2007
PEDIATRICS Vol. 119 No. 3 March 2007, pp. e764-e767 (doi:10.1542/peds.2006-1385)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Immenschuh, S.
Right arrow Articles by Bonkovsky, H. L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Immenschuh, S.
Right arrow Articles by Bonkovsky, H. L.
Related Collections
Right arrow Blood

EXPERIENCE & REASON

Marked Hyperbilirubinemia Associated With the Heme Oxygenase-1 Gene Promoter Microsatellite Polymorphism in a Boy With Autoimmune Hemolytic Anemia

Stephan Immenschuh, MDa, Ying Shan, MD, MPHb, Hartmut Kroll, MDa, Sentot Santoso, PhDa, Wilhelm Wössmann, MDc, Gregor Bein, MDa and Herbert L. Bonkovsky, MDb

a Institute of Clinical Immunology and Transfusion Medicine
c Department of Pediatric Hematology and Oncology, Justus Liebig University, Giessen, Germany
b Department of Medicine and the Liver-Biliary-Pancreatic Center, University of Connecticut Health Center, Farmington, Connecticut

ABSTRACT

Mild hyperbilirubinemia is a clinical feature of hemolysis. Here we describe a boy with marked elevation of serum bilirubin values (maximum: 70 mg/dL) during an acute episode of autoimmune hemolytic anemia, which returned to within the reference range after clinical improvement. The boy was a homozygous carrier of short alleles of the heme oxygenase-1 (HO-1) gene GT dinucleotide-repeat promoter polymorphism, which is associated with increased activity and inducibility of the heme-degrading enzyme HO-1, which catalyzes the production of bilirubin. In addition, heterozygosity of the uridine 5'-diphosphate-glucuronosyl-transferase 1A1 promoter polymorphism that is linked with Gilbert syndrome was found in this patient. Because bilirubin production plays a critical role during the neonatal period, the HO-1 promoter polymorphism may be an important genetic factor for the clinical outcome of neonatal hyperbilirubinemia.

Key Words: bilirubin • oxidative stress • genotype-phenotype correlation • genetic testing • kernicterus

Abbreviations: UGT1A1, uridine 5'-diphosphate-glucuronosyl-transferase 1A1 • HO, heme oxygenase • AIHA, autoimmune hemolytic anemia • PCR, polymerase chain reaction

Accepted Sep 27, 2006.