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

被引：5
|
作者：
Edison, ES [1 ]
Shaji, RV [1 ]
Srivastava, A [1 ]
Chandy, M [1 ]
机构：
[1] Christian Med Coll & Hosp, Dept Haematol, Vellore 632004, Tamil Nadu, India
来源：
HEMOGLOBIN | 2005年 / 29卷 / 03期
关键词：
HbE; hyperilirubinemia; UGT1A1 gene polymorphism; India;
D O I：
10.1081/HEM-200066314
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Homozygous HbE [beta 26(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.
引用
收藏
页码：189 / 195
页数：7
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