Objective: To investigate the incidence of beta zero-thalassemia in newborns in Xilin county of Guangxi and identify the common type of the gene mutation.
Methods: Cord blood samples from successive 2,423 newborns were screened for beta zero-thalassemia by PAGE, and the gene mutation was assayed by PCR and dot blot hybridization.
Results: Seven cases (0.29%) of beta zero-thalassemia were revealed in the 2,423 newborns. The gene mutation types were as follows: three cases of CD17/CD17, two of CD17/CD41-42, one of CD41-42/CD41-42 and one of CD17/IVS-I-1.
Conclusion: These data might be of help to prenatal diagnosis of beta zero-thalassemia in Guixi district.