alpha-thalassemia;
HK alpha alpha;
Southeast Asian deletion;
D O I:
10.1016/j.clinbiochem.2006.10.030
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:
Background: In one program of newborn screening to detect deletional alpha-thalassemia with microarray, the microarray result of a 10-month-old girl showed that she was positive for the rightward deletion junction fragment, the Southeast Asian deletion junction fragment and alpha 2. Study design: The girl and her parents were subjected to haematological and molecular analysis. Results: The haematological data revealed that the family presented a typical alpha-thalassemic trait. The molecular analysis showed that the girl and her mother were compound heterozygosity for HK alpha alpha allele and Southeast Asian deletion allele, and her father is compound heterozygosity for alpha alpha allele and Southeast Asian deletion allele. Conclusions: We have detected a hitherto unreported compound heterozygosity for HK alpha alpha allele and Southeast Asian deletion allele. This case will provide some clinical implications for PCR-based diagnosis for deletional alpha-thalassemia. (c) 2007 Published by The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.
机构:
First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R ChinaFirst Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Xu, XM
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Zhou, YQ
论文数: 0引用数: 0
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Zhou, YQ
;
Luo, GX
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Luo, GX
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Liao, C
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Liao, C
;
Zhou, M
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Zhou, M
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Chen, PY
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Chen, PY
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Lu, JP
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Lu, JP
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Jia, SQ
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h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Jia, SQ
;
Xiao, GF
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Xiao, GF
;
Shen, X
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Shen, X
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Li, J
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Li, J
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Chen, HP
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Chen, HP
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Xia, YY
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Xia, YY
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Wen, YX
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Wen, YX
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Mo, QH
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Mo, QH
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Li, WD
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Li, WD
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Li, YY
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Li, YY
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Zhuo, LW
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Zhuo, LW
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Wang, ZQ
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Wang, ZQ
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Chen, YJ
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Chen, YJ
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Qin, CH
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机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Qin, CH
;
Zhong, M
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h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
机构:
First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R ChinaFirst Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Xu, XM
;
Zhou, YQ
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Zhou, YQ
;
Luo, GX
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Luo, GX
;
Liao, C
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Liao, C
;
Zhou, M
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Zhou, M
;
Chen, PY
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Chen, PY
;
Lu, JP
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Lu, JP
;
Jia, SQ
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Jia, SQ
;
Xiao, GF
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Xiao, GF
;
Shen, X
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Shen, X
;
Li, J
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Li, J
;
Chen, HP
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Chen, HP
;
Xia, YY
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Xia, YY
;
Wen, YX
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Wen, YX
;
Mo, QH
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Mo, QH
;
Li, WD
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Li, WD
;
Li, YY
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Li, YY
;
Zhuo, LW
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Zhuo, LW
;
Wang, ZQ
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Wang, ZQ
;
Chen, YJ
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Chen, YJ
;
Qin, CH
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China
Qin, CH
;
Zhong, M
论文数: 0引用数: 0
h-index: 0
机构:First Mil Med Univ, Dept Med Genet, Guangzhou 510515, Guangdong, Peoples R China