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Hemoglobin. 2005;29(3):189-95.

Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism.

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1
Department of Haematology, Christian Medical College, Vellore, India.

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.

PMID:
16114182
[Indexed for MEDLINE]
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