Study on genetic screening and diagnosis of alpha thalassemia by real-time fluorescent quantitative PCR

Objective To investigate the gene carried condition and hematological characteristics of α-thalassemia in pregnant women in HuZhou area,and provide scientific data for prevention of birth defects with thalassemia.Methods Real-time fluorescent quantitative PCR (Real-time PCR) was applied for genetic screening and diagnosis of alpha thalassemia on 1000 cases of pregnant women.Positive samples were verified by traditional gene diagnosis of α-thalassemia,meanwhile using hemoglobin electrophoresis technology to screen alpha thalassemia.Results 16 cases were detected α-thalassemia and the thus α-thalassemia carrier ratio was 1.6％.16 patients were diagnosed as deletion type of α-thalassemia,while mutantion type was not detected.These results were the same as checked by traditional gene diagnosis of α-thalassemia.All samples screening for hemoglobin by capillary zone electrophores,α-thalassaemia screening was positive in 5 cases.Conclusion The α-thalassemia gene carrying rate of pregnant women in Huzhou city was 1.6％.Using reasonable methods to screen pregnant women has positive significance on prevention of the occurrence of birth defects. Key words: Polymerase chain reaction ; Thalassaemia;  Genes ;  Hemoglobins ;  Electrophoresis