Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism.
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.
Edison
Eunice Sindhuvi
ES
Department of Haematology, Christian Medical College, Vellore, India.
Shaji
Ramachandran V
RV
Srivastava
Alok
A
Chandy
Mammen
M
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
D014453:Glucuronosyltransferase; D006446:Hemoglobin E; D000099148:UGT1A1 Enzyme