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
1Prenatal Diagnostic Center, Guangzhou Maternal and Neonatal Hospital, Guangzhou Women and Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, 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: 10.1515/cclm.2011.759, October 2011
- Published Online:
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.
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