Rapid carrier screening for β-thalassemia by single-step allele-specific PCR and detection

Objectives: This study aimed to evaluate a rapid molecular carrier screening strategy for β-thalassemia. Design and methods: Allele-specific PCR was combined with amplicon detection by dissociation curve analysis of SYBR® Green I fluorescence in a single step. Results: The presence of a particular mutation results in the amplification of a mutation-specific product and the dissociation temperature of each amplicon was highly reproducible. Conclusions: Homogeneous allele-specific PCR amplification and detection of multiple β-globin mutations can serve as a rapid and inexpensive carrier screening tool.