Simultaneous PCR detection of β-thalassemia and α-thalassemia 1 (SEA type) in prenatal diagnosis of complex thalassemia syndrome

Objective: To establish a rapid PCR method for simultaneous detection of beta -thalassemia and alpha -thalassemia 1 genes for diagnosis of complex alpha beta -thalassemia syndrome. Design and methods: Using multiplex allele specific PCR approach, we evaluated a simultaneous detection of the SEA type a-thalassemia 1 and the common Southeast Asian beta -thalassemia and hemoglobin E genes. The system was tested on known cases of double heterozygote for alpha- and beta -thalassemias and in a prenatal diagnosis of complex alpha beta -thalassemia syndrome. Results: Co-inheritance of a-thalassemia 1 (SEA type) with each of the common beta -thalassemia genes in Southeast Asian and with hemoglobin E could be identified in a single PCR reaction. A successful application of this simultaneous detection system in prenatal diagnosis of a complex thalassemia syndrome caused by an EFBart's disease was demonstrated in a Thai family. Conclusion: We have shown that correct diagnosis of double heterozygosity for a-thalassemia 1 and beta -thalassemia or hemoglobin E could be obtained using a simultaneous multiplex PCR. These rapid PCR assays would facilitate characterization and prenatal diagnosis of complex thalassemia syndromes in the regions where both alpha- and beta -thalassemias and hemoglobin E are common. (C) 2001 The Canadian Society of Clinical Chemists. All rights reserved.