Identification of a new δ chain hemoglobin variant in a β-thalassemia carrier:: Hb A2-MUMC [δ13(A10)Ala→Asp]

被引：1
作者：
Walker, L
Patterson, M
Eng, B
McFarlane, A
Waye, JS
机构：
[1] McMaster Univ, Fac Hlth Sci, Dept Pathol & Mol Med, Med Ctr, Hamilton, ON L8N 3Z5, Canada
[2] Hamilton Hlth Sci, Hamilton Reg Lab Med Program, Hamilton, ON, Canada
来源：
HEMOGLOBIN | 2005年 / 29卷 / 04期
关键词：
delta chain variant; missense mutation; beta-thalassemia (thal);
D O I：
10.1080/03630260500310794
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：
We describe a case of beta-thalassemia (thal) trait in which the patient also carries a novel delta chain variant due to a missense mutation at amino acid codon 13 (GCC -> GAC, Ala -> Asp). The level of Hb A(2) was not elevated, raising the potential for misdiagnosis.
引用
收藏
页码：285 / 287
页数：3
相关论文
共 10 条
[1]  
CAI SP, 1991, HUM GENET, V87, P728, DOI 10.1007/BF00201734
[2]  
CODRINGTON JF, 1990, BLOOD, V76, P1246
[3]   Epidemiology of the delta globin alleles in Southern Italy shows complex molecular, genetic, and phenotypic features [J].
De Angioletti, M ;
Lacerra, G ;
Gaudiano, C ;
Mastrolonardo, G ;
Pagano, L ;
Mastrullo, L ;
Masciandaro, S ;
Carestia, C .
HUMAN MUTATION, 2002, 20 (05) :358-367
[4]   STRUCTURAL STUDIES OF A NEW HEMOGLOBIN - HBJ LENS, BETA-13(A10) ALA-]ASP [J].
DJOUMESSI, S ;
ROUSSEAUX, J ;
DAUTREVAUX, M .
FEBS LETTERS, 1981, 136 (01) :145-147
[5]  
ENG B, 1983, HUM MUTAT, V2, P375
[6]  
HUISMAN THJ, 1997, AUGUSTA SICKLE CELL
[7]   Prevalence and molecular characterization of β-thalassemia in Filipinos [J].
Ko, TM ;
Caviles, AP ;
Hwa, HL ;
Liu, CW ;
Hsu, PM ;
Chung, YP .
ANNALS OF HEMATOLOGY, 1998, 77 (06) :257-260
[8]   Identification of a new β-thalassemia nonsense mutation [codon 59 (AAG→TAG)] [J].
Patterson, M ;
Walker, L ;
Chui, DHK ;
Cohen, AR ;
Waye, JS .
HEMOGLOBIN, 2003, 27 (03) :201-203
[9]  
RIBEIRO MLS, 1993, AM J HUM GENET, V52, P842
[10]   β-thalassemia in association with a new δ-chain hemoglobin variant [δ116(G18)Arg→Leu]:: Implications for carrier screening and prenatal diagnosis [J].
Waye, JS ;
Patterson, M ;
Walker, L ;
Eng, B ;
Nakamura, LM ;
Lafferty, JD ;
Yong, SL ;
Wu, JK ;
Chui, DHK .
AMERICAN JOURNAL OF HEMATOLOGY, 2003, 74 (03) :179-181
1