The incidence of thalassemia and analysis of thalassemia gene mutation in the border area of Guangdong and Guangxi

Objective:To investigate gene frequencies and distribution of thalassemia and to prevent the birth rates of thalassemia in the border area of Guangdong and Guangxi.Methods:MCV,erythrocyte fragility test and hemoglobin electrophoresis were used to screen the thalassemia with 2503 samples.The positive samples were tested for the gene analysis by using gap-PCR and PCR/RDB technology.Results:502 samples were screened among the 2503 samples which meant the incidence of thalassemia was 20.06%.411 samples were final diagnosed from 502 screening positive samples of thalassemia.Then the thalassemia carrier rate including alpha and beta thalassemia was as high as 16.42 %.Among them,the alpha thalassemia carrier rate was 9.44%.The highest proportion of genotype --SEA/αα,--SEA/ααCS,--SEA/-α3.7 were accounted for 72.38%.8.15% of beta thalassemia gene with 8 different types of mutations were found.The five most common mutations CD41-42,-28,IVS-Ⅱ-654,CD71-72 were accounted for 98.04%.32 samples were detected to be combined with α and β thalassemia double heterozygotes.Conclusion:The border area of Guangdong and Guangxi is one of the area with high incidence of thalassemia.It is recommended that more attention should be paid to detect the carriers of thalassemia by hematological screening and common gene diagnosis in the area with high incidence of thalassemia.The study detected deletion and non-deletion of alpha thalassemia and beta thalassemia gene diagnosis at the same time,thus it is effective to improve the detection rate of thalassemia and has an important meaning to procreate prepotency and to prevent the birth rates of thalassemia.