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De Gruyter, Clinical Chemistry and Laboratory Medicine, 2(50), 2012

DOI: 10.1515/cclm.2011.759

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

Journal article published in 2012 by Ying-Na Liu, Ru Li, Jian-Ying Zhou, Xing-Mei Xie, Jian Li, Can Liao, Dong-Zhi Li
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

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