title: Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism.
abstract: Homozygous HbE [beta26(B8)Glu-->Lys] is a clinically mild disorder with no significant symptoms. However, we have frequently noted hyperbilirubinemia among patients with homozygous HbE in the Indian population, with jaundice being the major complaint at presentation. A study of the UGT1A1 gene polymorphism shows that the variant TA7 in the promoter region of the UGT1A1 gene is associated with hyperbilirubinemia in homozygous HbE patients.
authors.affiliation: Department of Haematology, Christian Medical College, Vellore, India.
authors.forename: Eunice Sindhuvi
authors.initials: ES
authors.lastname: Edison
authors.forename: Ramachandran V
authors.initials: RV
authors.lastname: Shaji
authors.forename: Alok
authors.initials: A
authors.lastname: Srivastava
authors.forename: Mammen
authors.initials: M
authors.lastname: Chandy
mesh_terms: D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics; D006456:Hemoglobinuria / Q000150:complications / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000150:complications / Q000235:genetics*; D007194:India; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D006446:Hemoglobin E; D000099148:UGT1A1 Enzyme