Analysis on screening of thalassemia among 10987 peoples reproductive age in Changsha area

Objective: To observe the genotypes of thalassemia in childbearing age population in changsha city to provide information for prevent the birth with severe case of thalassemia. Methods: 10 987 blood samples with childbearing populations were screened for thalassemia by phenotypie analysis with hematological screening,the positive cases were further tested by polymerase chain reaction( PCR) to confirm α- thalassemia gene cases,By using PCR with Reverse Dot Blot Hybridization( RDB) to confirm their β- thalassemia mutations. Results: the positive screening divided into α and β- thalassemia were 495 cases and 317 cases of phenotype,and of the total 419 cases were performed to gene diagnosis for α and β globin gene. The results presented that there were 74 carriers with α- thalassemia,123carriers with β- thalassemia,7carriers with compound α and β thalassemia,the frequency was 23. 34%; 75%; 1. 67%. Conclusion: The characteristics of α and β thalassemia genotybe in changsha were consistent with that in south area of china. To carry out genetic screening and diagnosis of thalassemia in changsha area is the best effective measure to prevent severe thalassemia futus to born.