Hyperbilirubinemia in Homozygous HbE Disease Is Associated with the UGT1A1 Gene Polymorphism.
- Resource Type
- Article
- Authors
- Edison, Eunice Sindhuvi; Shaji, Ramachandran V.; Srivastava, Alok; Chandy, Mammen
- Source
- Hemoglobin. Aug2005, Vol. 29 Issue 3, p189-195. 7p.
- Subject
- *HYPERBILIRUBINEMIA
*JAUNDICE
*GENETIC polymorphisms
*PROMOTERS (Genetics)
*HUMAN genetics
- Language
- ISSN
- 0363-0269
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 TA 7 in the promoter region of the UGT1A1 gene is associated with hyperbilirubinemia in homozygous HbE patients. [ABSTRACT FROM AUTHOR]