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

Pediatrics

Volumn 119, Issue 3, 2007, Pages

  Immenschuh, Stephan ^a   Shan, Ying ^b   Kroll, Hartmut ^a   Santoso, Sentot ^a   Wössmann, Wilhelm ^a   Bein, Gregor ^a   Bonkovsky, Herbert L ^b  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

Bilirubin; Genetic testing; Genotype phenotype correlation; Kernicterus; Oxidative stress

Indexed keywords

ALANINE AMINOTRANSFERASE; ALBUMIN; ALKALINE PHOSPHATASE; BILIRUBIN; CHOLINESTERASE; CYCLOPHOSPHAMIDE; CYCLOSPORIN; GLUCOCORTICOID; GLUCURONOSYLTRANSFERASE; HEME OXYGENASE 1; HEMOGLOBIN; IMMUNOGLOBULIN; LACTATE DEHYDROGENASE; RITUXIMAB;

ACUTE DISEASE; ADOLESCENT; ALLELE; ANAMNESIS; ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; CASE REPORT; CATALYSIS; DINUCLEOTIDE REPEAT; DNA POLYMORPHISM; DOSE RESPONSE; ENZYME DEGRADATION; ERYTHROCYTE TRANSFUSION; GENETIC ASSOCIATION; GENETIC LINKAGE; GILBERT DISEASE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HYPERBILIRUBINEMIA; LABORATORY TEST; LIVER NECROSIS; MALE; MICROSATELLITE MARKER; PANCYTOPENIA; PRIORITY JOURNAL; PROMOTER REGION; RETICULOCYTOSIS; SPHEROCYTOSIS; SPLENECTOMY; TREATMENT FAILURE;

ADOLESCENT; ANEMIA, HEMOLYTIC, AUTOIMMUNE; CYCLOSPORINE; GENOTYPE; HEME OXYGENASE-1; HUMANS; HYPERBILIRUBINEMIA; IMMUNOSUPPRESSIVE AGENTS; MALE; MICROSATELLITE REPEATS; POLYMORPHISM, GENETIC; SPLENECTOMY; TREATMENT OUTCOME;

EID: 33947159049     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2006-1385     Document Type: Article

References (20)

1. Stocker R, Yamamoto Y, McDonagh AF, Glazer AN, Ames BN. Bilirubin is an antioxidant of possible physiological importance. Science. 1987;235:1043-1046
2. Mayer M. Association of serum bilirubin concentration with risk of coronary artery disease. Clin Chem. 2000;46:1723-1727
3. Sedlak TW, Snyder SH. Bilirubin benefits: cellular protection by a biliverdin reductase antioxidant cycle. Pediatrics. 2004;113: 1776-1782
4. Kapitulnik J. Bilirubin: an endogenous product of heme degradation with both cytotoxic and cytoprotective properties. Mol Pharmacol. 2004;66:773-779
5. Dennery PA, Seidman DS, Stevenson DK. Neonatal hyperbilirubinemia. N Engl J Med. 2001;344:581-590
6. Watchko JF, Daood MJ, Biniwale M. Understanding neonatal hyperbilirubinaemia in the era of genomics. Semin Neonatol. 2002;7:143-152
7. Tenhunen R, Marver HS, Schmid R. The enzymatic conversion of heme to bilirubin by microsomal heme oxygenase. Proc Natl Acad Sci U S A. 1968;61:748-755
8. Maines MD. The heme oxygenase system: a regulator of second messenger gases. Annu Rev Pharmacol Toxicol. 1997;37:517-554
9. Poss KD, Tonegawa S. Heme oxygenase is required for mammalian iron reutilization. Proc Natl Acad Sci U S A. 1997;94: 10919-10924
10. Yachie A, Niida Y, Wada T, et al. Oxidative stress causes enhanced endothelial cell injury in human heme oxygenase-1 deficiency. J Clin Invest. 1999;103:129-135
11. Elbirt KK, Bonkovsky HL. Heme oxygenase: recent advances in understanding its regulation and role. Proc Assoc Am Physicians. 1999;111:438-447
12. Immenschuh S, Ramadori G. Gene regulation of heme oxygenase-1 as a therapeutic target. Biochem Pharmacol. 2000;60: 1121-1128
13. Ryter SW, Alam J, Choi AM. Heme oxygenase-1/carbon monoxide: from basic science to therapeutic applications. Physiol Rev. 2006;86:583-650
14. Belcher JD, Mahaseth H, Welch TE, Otterbein LE, Hebbel RP, Vercellotti GM. Heme oxygenase-1 is a modulator of inflammation and vaso-occlusion in transgenic sickle mice. J Clin Invest. 2006;116:808-816
15. Yamada N, Yamaya M, Okinaga S, et al. Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet. 2000; 66:187-195
16. Exner M, Minar E, Wagner O, Schillinger M. The role of heme oxygenase-1 promoter polymorphisms in human disease. Free Radic Biol Med. 2004;37:1097-1104
17. Nath KA, Balla G, Vercellotti GM, et al. Induction of heme oxygenase is a rapid, protective response in rhabdomyolysis in the rat. J Clin Invest. 1992;90:267-270
18. Bosma PJ, Chowdhury JR, Bakker C, et al. The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med. 1995;333: 1171-1175
19. Petz LD, Garraty G. Immune Hemolytic Anemias. 2nd ed. Philadelphia, PA: Churchill Livingstone/Elsevier; 2004
20. Kanai M, Akaba K, Sasaki A, et al. Neonatal hyperbilirubinemia in Japanese neonates: analysis of the heme oxygenase-1 gene and fetal hemoglobin composition in cord blood. Pediatr Res. 2003;54:165-171