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
相关论文
共 50 条
  • [31] Profiling of UGT1A1*6, UGT1A1*60, UGT1A1*93, and UGT1A1*28 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing
    Amandito, Radhian
    Rohsiswatmo, Rinawati
    Carolina, Erica
    Maulida, Rizka
    Kresnawati, Windhi
    Malik, Amarila
    FRONTIERS IN PEDIATRICS, 2019, 7
  • [32] DISTINCT ASSOCIATIONS BETWEEN UGT1A1 GENE PROMOTER POLYMORPHISM AND HYPERBILIRUBINEMIA IN CML PATIENTS TREATED WITH NILOTINIB AND RADOTINIB
    Kim, S.
    Choi, S. Y.
    Lee, S. E.
    Yoo, H. L.
    Oh, Y. J.
    Lee, M. Y.
    Jang, E. J.
    Choi, M. Y.
    Jang, M. M.
    Kim, D. W.
    HAEMATOLOGICA, 2015, 100 : 684 - 685
  • [33] Developing and evaluating a predictive model for neonatal hyperbilirubinemia based on UGT1A1 gene polymorphism and clinical risk factors
    Cui, Zhaoyang
    Shen, Wensheng
    Sun, Xuetong
    Li, Yan
    Liu, Ying
    Sun, Zhiyong
    FRONTIERS IN PEDIATRICS, 2024, 12
  • [34] Commentary: Profiling of UGT1A1*6, UGT1A1*60, UGT1A1*93, and UGT1A1*28 Polymorphisms in Indonesian Neonates With Hyperbilirubinemia Using Multiplex PCR Sequencing
    Heydari, Mohammad Reza
    Fardaei, Majid
    FRONTIERS IN PEDIATRICS, 2020, 7
  • [35] Polymorphism of UGT1A1 and Frequency of Hyperbilirubinemia in Patients with Chronic Myeloid Leukemia Treated By Nilotinib
    Bykova, Anastasia
    Abdullaev, Adhamjon
    Gusarova, Galina
    Chelysheva, Ekaterina
    Treglazova, Svetlana
    Smirnova, Svetlana
    Turkina, Anna G.
    BLOOD, 2014, 124 (21)
  • [36] UGT1A1 Gene Polymorphisms in North Indian Neonates Presenting with Unconjugated Hyperbilirubinemia
    Sunil K Agrawal
    Praveen Kumar
    Ritu Rathi
    Neeraj Sharma
    Reena Das
    Rajendra Prasad
    Anil Narang
    Pediatric Research, 2009, 65 : 675 - 680
  • [37] Heterozygosity for a polymorphism in the promoter region of the UGT1A1 gene - Reply
    Strassburg, CP
    Manns, MP
    JOURNAL OF HEPATOLOGY, 2001, 35 (01) : 149 - 150
  • [38] UGT1A1 Gene Polymorphisms in North Indian Neonates Presenting with Unconjugated Hyperbilirubinemia
    Agrawal, Sunil K.
    Kumar, Praveen
    Rathi, Ritu
    Sharma, Neeraj
    Das, Reena
    Prasad, Rajendra
    Narang, Anil
    PEDIATRIC RESEARCH, 2009, 65 (06) : 675 - 680
  • [39] A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants
    Tran, Phi
    Grimbergen, Andrea
    Lewis, Megan
    Yi, Ruiyang
    Williams, Christopher
    ACG CASE REPORTS JOURNAL, 2024, 11 (07)
  • [40] Association of Neonatal Hyperbilirubinemia with UGT1A1 Gene Polymorphisms: A Meta-Analysis
    Yu, Zibi
    Zhu, Kaichang
    Wang, Li
    Liu, Ying
    Sun, Jianmei
    MEDICAL SCIENCE MONITOR, 2015, 21 : 3104 - 3114
12345