Published online February 26, 2007
PEDIATRICS Vol. 119 No. 3 March 2007, pp. e764-e767 (doi:10.1542/peds.2006-1385)
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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.


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