A novel mutation in the alpha 1 globin gene in an Iranian α-thalassemia carrier

被引：0
|
作者：
Azam, Amirian [1 ]
Morteza, Karimipour [1 ]
Maryam, Taghavi Basmanj [1 ]
Alireza, Kordafshari [1 ]
Mina, Choubini [1 ]
Arezou, Sanjari [1 ]
Fereshteh, Maryami [1 ]
Sirous, Zeinali [1 ]
机构：
[1] Pasteur Inst Iran, Dept Mol Med, Tehran, Iran
来源：
CLINICAL BIOCHEMISTRY | 2011年 / 44卷 / 13期
关键词：
Alpha-thalassemia; CD116; mutation; Compound heterozygous;
D O I：
10.1016/j.clinbiochem.2011.08.763
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：S302 / S302
页数：1
相关论文
共 50 条
  • [21] Regulation of human alpha-globin gene expression and alpha-thalassemia
    Ribeiro, D. M.
    Sonati, M. F.
    GENETICS AND MOLECULAR RESEARCH, 2008, 7 (04) : 1045 - 1053
  • [22] A novel mutation of −50 (G→A) in the direct repeat element of the β-globin gene identified in a patient with severe β-thalassemia
    Dong-Zhi Li
    Can Liao
    Xing-Mei Xie
    Jian-Ying Zhou
    Annals of Hematology, 2009, 88 : 1149 - 1150
  • [23] A Rare Heterozygote with a Novel IVS-II-786 (T>A) Mutation on ß-Globin Gene in a Patient with Thalassemia
    Liu, Hou-Ming
    Wu, Chang-Lin
    Yi, Pin
    CLINICAL LABORATORY, 2023, 69 (12) : 2539 - 2542
  • [24] A novel mutation of −73(A→T) in the CCAAT box of the β-globin gene identified in a patient with the mild β-thalassemia intermedia
    Xiao-Wei Chen
    Qiu-Hua Mo
    Qiang Li
    Rong Zeng
    Xiang-Min Xu
    Annals of Hematology, 2007, 86 : 653 - 657
  • [25] First description of a frameshift mutation in the alpha(1)-globin gene associated with alpha-thalassaemia
    Ayala, S
    Colomer, D
    Aymerich, M
    Abella, E
    Corrons, JLV
    BRITISH JOURNAL OF HAEMATOLOGY, 1997, 98 (01) : 47 - 50
  • [26] ALPHA-0-THALASSEMIA DUE TO RECOMBINATION BETWEEN THE ALPHA-1-GLOBIN GENE AND AN ALUI REPEAT
    NICHOLLS, RD
    HIGGS, DR
    CLEGG, JB
    WEATHERALL, DJ
    BLOOD, 1985, 65 (06) : 1434 - 1438
  • [27] THALASSEMIA CAUSED BY A NOVEL REARRANGEMENT INVOLVING THE ALPHA-DELTA-BETA-GLOBIN GENE-CLUSTER
    JONES, R
    OLD, J
    TRENT, R
    CLEGG, JB
    WEATHERALL, DJ
    BRITISH JOURNAL OF HAEMATOLOGY, 1981, 49 (01) : 134 - 134
  • [28] ALPHA-THALASSEMIA AND GLOBIN GENE REARRANGEMENTS IN FRENCH-POLYNESIA
    PHILIPPON, G
    MARTINSON, JJ
    RUGLESS, MJ
    MOULIAPELAT, JP
    PLICHART, R
    ROUX, JF
    MARTIN, PMV
    CLEGG, JB
    EUROPEAN JOURNAL OF HAEMATOLOGY, 1995, 55 (03) : 171 - 177
  • [29] MOLECULAR CHARACTERIZATION OF A β-GLOBIN GENE DELETION OF 1357 bp IN A TAIWANESE β-THALASSEMIA CARRIER
    Huang, Chien-Hao
    Chang, Yih-Yuan
    Chen, Chung-Hsiung
    Ko, Tsang-Ming
    HEMOGLOBIN, 2008, 32 (05) : 498 - 504
  • [30] NEGRO ALPHA-THALASSEMIA IS CAUSED BY DELETION OF A SINGLE ALPHA-GLOBIN GENE
    HIGGS, DR
    OLD, JM
    CLEGG, JB
    PRESSLEY, L
    HUNT, DM
    WEATHERALL, DJ
    LANCET, 1979, 2 (8137): : 272 - 276
12345