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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.

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

Ying-Na Liu1 / Ru Li1 / Jian-Ying Zhou1 / Xing-Mei Xie1 / Jian Li1 / Can Liao1 / 1

1Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, PR China

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

Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM). Volume 50, Issue 2, Pages 273–277, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm.2011.759, October 2011

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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

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