Marked hyperbilirubinemia associated with the heme oxygenase-1 gene promoter microsatellite polymorphism in a boy with autoimmune hemolytic anemia.

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.

• Authors: Stephan Immenschuh, Ying Shan, Hartmut Kroll, Sentot Santoso, Wilhelm Wössmann, Gregor Bein, Herbert L Bonkovsky
• Journal: Pediatrics (Pediatrics) Vol. 119 Issue 3 Pg. e764-7 (Mar 2007) ISSN: 1098-4275 [Electronic] United States
• PMID: 17325212 (Publication Type: Case Reports, Journal Article)

Chemical References

• Immunosuppressive Agents
• Cyclosporine
• Heme Oxygenase-1

Topics

• Adolescent
• Anemia, Hemolytic, Autoimmune (complications, drug therapy)
• Cyclosporine (therapeutic use)
• Genotype
• Heme Oxygenase-1 (genetics)
• Humans
• Hyperbilirubinemia (blood, diagnosis, genetics, therapy)
• Immunosuppressive Agents (therapeutic use)
• Male
• Microsatellite Repeats (genetics)
• Polymorphism, Genetic (genetics)
• Splenectomy
• Treatment Outcome