Article ID Journal Published Year Pages File Type
1971300 Clinical Biochemistry 2010 6 Pages PDF
Abstract

ObjectivesThe present study was aimed at identifying hemoglobin (Hb) alpha variants.Design and methodsTo identify Hb variants, a high-resolution melting (HRM) method was performed.ResultsThe diagnostic strategy was found to be successful in identifying Hb alpha variants including HBA1:c.27G>T, (Hb Hekinan) HBA1:c.46G>C (Hb Ottawa), HBA2:c.31_33AG (Hb α2-globin gene codon del AG), HBA1:c.223G>C (Hb G-Taichung), HBA1:p.Phe118_Thr119insIle (Hb Phnom Penh), HBA2:c.369C>G (Hb Westmead), HBA2:c.364G>A (or HBA1) (Hb Owari), HBA2:c.377T>C (Hb Quong Sze), and HBA2:c.427T>C (Hb Constant Spring). Each Hb variant could be readily and easily identified through the difference in plotted curves. In addition, the Hb variants could be distinguished to be located at either HBA1 or HBA2 gene.ConclusionsThe HRM analysis is found to be a good tool for identifying Hb variants in alpha globin genes.

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Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
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