Development of a high-resolution melting method for the detection of hemoglobin alpha variants.
OBJECTIVE
The present study was aimed at identifying hemoglobin (Hb) alpha variants.


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 HBA1:c.27G>T, (Hb Hekinan) HBA1:c.46G>C (Hb Ottawa), HBA2:c.31_33AG (Hb alpha2-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.


CONCLUSIONS
The HRM analysis is found to be a good tool for identifying Hb variants in alpha globin genes.
Shih
Hung-Chang
HC
Department of Veterinary Medicine, National Chung Hsiung University, Taichung, Taiwan.
Er
Tze-Kiong
TK
Chang
Tien-Jye
TJ
Chang
Ya-Sian
YS
Liu
Ta-Chih
TC
Chang
Jan-Gowth
JG
D005091:Exons / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008954:Models, Biological; D017422:Sequence Analysis, DNA / Q000379:methods*
D006455:Hemoglobins, Abnormal; C119639:hemoglobin Phnom Penh; C048297:hemoglobin Owari; C056356:hemoglobin Hekinan; C045396:hemoglobin Quong Sze; C056329:Hemoglobin Westmead; C035541:Hemoglobin Constant Spring