Rapid Screening for Deleted Form of β-thalassemia by Real-Time Quantitative PCR.

Background: Thalassemia is the most common single gene disease in human beings. The prevalence rate of -thalassemia in Taiwan is approximately 1-3%. Previously methods to reveal and diagnose severe deleted form of alpha- or beta-thalassemia were insufficient and inappropriate for prenatal diagnosis. Methods: A real-time quantitative PCR method was set up for rapid screening of the deleted form of beta-thalassemia. Results: Our results show that Ct between deleted form of beta-thalassemia and normal individuals were 1.0674 +/- 0.0713. On the contrary, mutation form beta-thalassemia showed no difference with normal healthy control. The HBB/CCR5 ratio for deleted form of beta-thalassemia patients was 0.48, whether normal individuals and mutation form of beta-thalassemia was 1.0. Conclusion: This RQ-PCR technique is an alternative rapid screening assay for deleted form of beta-thalassemia. In addition, it could also identify undefined type. Our technique by using RQ-PCR to quantify gene copies is a reliable and time-saving method that can screen deleted form of beta-thalassemia. (C) 2016 Wiley Periodicals, Inc.