Development of a high-resolution melting method for the detection of hemoglobin alpha variants.

ABSTRACT

OBJECTIVES: The present study was aimed at identifying hemoglobin (Hb) alpha variants. DESIGN AND METHODS: To identify Hb variants, a high-resolution melting (HRM) method was performed. RESULTS: The diagnostic strategy was found to be successful in identifying Hb alpha variants including HBA1c.27G>T, (Hb Hekinan) HBA1c.46G>C (Hb Ottawa), HBA2c.31_33AG (Hb alpha2-globin gene codon del AG), HBA1c.223G>C (Hb G-Taichung), HBA1p.Phe118_Thr119insIle (Hb Phnom Penh), HBA2c.369C>G (Hb Westmead), HBA2c.364G>A (or HBA1) (Hb Owari), HBA2c.377T>C (Hb Quong Sze), and HBA2c.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. CONCLUSIONS: The HRM analysis is found to be a good tool for identifying Hb variants in alpha globin genes.