Study on genetic diagnosis and prenatal diagnosis of thalassemias

Objective:To establish efficient and accurate methods for genetic diagnosis and prenatal diagnosis of thalassemia and investigate the types of gene mutation of both α-and β-thalassemias within populations in Yunnan Province.Methods:Multiplex polymerase chain reaction (mPCR) and PCR-reverse dot blot hybridization (PCR-RDB) techniques were applied for the genetic diagnosis of α-and β-thalassemias in 174 individuals with suspected thalassemia.Prenatal diagnosis was performed to 25 couples at risk of having thalassemia fetuses.Results:133 in the 174 individuals were found having hemoglobin gene mutations,among them,50 cases had α-hemoglobin gene mutations,other 83 cases had β-hemoglobin gene mutations.The prenatal diagnosis revealed that one fetus with intermediate α-thalassemia (HbH-CS) and one fetus with Hb Bart's who were artificial labor after diagnosis,6 fetuses with mild α-thalassemia and 8 fetuses with β-thalassemia who were term delivery.Conclusion:76.4% of the 174 individuals with suspected thalassemia are quickly and efficiently conformed by mPCR and PCR-RDB techniques,which demonstrated that these techniques could be used as clinical routine tests for genetic diagnosis and prenatal diagnosis of thalassemia.The mutation hotspots of β-thalassemia and their incidences in Yunnan populations may differ from those in the populations in other parts of China.More studies seem to be necessary to explore the gene mutations of thalassemia in Yunnan populations.