Abstract：Objective To explore the application of fluorescence PCR-probe melting curve analysis (PMCA) in the rapid diagnosis of deletion α-thalassemia. Methods A total of 2261 blood samples and 35 amniotic fluid samples were collected in Zhuhai Municipal Maternity and Child Healthcare Hospital from October to December 2019.Through double-blind method, PMCA and single-tube multiplex PCR (gap-PCR) were used to detect three common deletion αthalassemia genes in these 2296 clinical samples.The samples inconsistent with results were confirmed by DNA sequencing analysis. Results In these 2296 samples, except for one unknown mutation gene detected by PMCA in one sample, the results of PMCA in others were consistent with those of gap-PCR, with a coincidence rate of 99.9%.DNA sequencing of the only inconsistent sample showed that a single base mutation (A＞G) occurred in the probe coverage area. Conclusion PMCA can quickly and accurately detect three common deletion α-thalassemia genes, which can be used as an alternative or verification method of gap-PCR technology, as well as for large-scale population screening and prenatal diagnosis.
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