Hyperbilirubinemia in Homozygous HbE Disease Is Associated with the UGT1A1 Gene Polymorphism

Abstract

Homozygous HbE [β26(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.

• HbE
• Hyperilirubinemia
• UGT1A1 gene polymorphism
• India