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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

12 Issues per year


IMPACT FACTOR 2016: 3.432

CiteScore 2016: 2.21

SCImago Journal Rank (SJR) 2016: 1.000
Source Normalized Impact per Paper (SNIP) 2016: 1.112

Online
ISSN
1437-4331
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Volume 50, Issue 2 (Feb 2012)

Issues

Screening for mutations in the α-globin genes leading to abnormal hemoglobin variants with high resolution melting analysis

Ying-Na Liu
  • Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Ru Li
  • Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Jian-Ying Zhou
  • Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China
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  • De Gruyter OnlineGoogle Scholar
/ Xing-Mei Xie
  • Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Jian Li
  • Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Can Liao
  • Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China
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  • De Gruyter OnlineGoogle Scholar
/ Dong-Zhi Li
  • Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China
  • Email
  • Other articles by this author:
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Published Online: 2011-10-25 | DOI: https://doi.org/10.1515/cclm.2011.759

Abstract

Background: α-Thalassemia is one of the most commonly inherited single-gene disorders in southern China. It is important to identify non-deletional α-thalassemia in areas where α-thalassemia is prevalent, since non-deletional HbH disease (--/αTα or --/ααT) is caused by the interaction of a non-deletional α-thalassemia with α-thalassemia-1 trait (--/αα). In this study, we developed an optimized molecular protocol for screening for α-globin gene mutations and validated the feasibility of using it as a rapid detection method.

Methods: An approach based on high-resolution melting (HRM) analysis was used. A total of 74 samples, including 54 abnormal α-chain samples and 20 control samples, were tested.

Results: All of the 54 samples with point mutations at the exons 1, 2 or 3 of the α-globin genes, including 33 non-deletional α-thalassemia, were successfully detected.

Conclusions: HRM has the potential to become an efficient, rapid screening method for non-deletional α-thalassemia.

Keywords: α-thalassemia; hemoglobin H disease; high-resolution melting (HRM) analysis; molecular screening; non-deletional mutations

About the article

Corresponding author: Dong-Zhi Li, Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center, Jinsui Road 9, Zhujiang New Town, Guangzhou, Guangdong 510623, PR China


Received: 2011-07-04

Accepted: 2011-10-04

Published Online: 2011-10-25

Published in Print: 2012-02-01


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm.2011.759.

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©2012 by Walter de Gruyter Berlin Boston. Copyright Clearance Center

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