Marked hyperbilirubinemia associated with the heme oxygenase-1 gene promoter microsatellite polymorphism in a boy with autoimmune hemolytic anemia |
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Authors: | Immenschuh Stephan Shan Ying Kroll Hartmut Santoso Sentot Wössmann Wilhelm Bein Gregor Bonkovsky Herbert L |
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Affiliation: | Institute of Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany. stephan.immenschuh@immunologie.med.uni-giessen.de |
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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. |
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