The study of αβ compound thalassemia and non-deletion α thalassemia

Objective: To analyze the genotype and hematological features of αβ compound thalassemia and non-deletion αthalassemia in Shenzhen. Methods: The suspected thalassemia patients were analyzed in our hospital from July of 2012 to January of2013. The most common mutations in Chinese population were detected. Hematology was also detected for positive patients. Results:236 cases with thalassemia were detected. There are 12 cases with non-deletion alpha gene mutation,and WS mutation frequency is the highest; 11 cases with αβ compound thalassemias were detected,and CD41-42 heterozygous mutation associated with--SEA/αα is the most common. Conclusion: The detection rate of αβ compound thalassemia is 4. 7% in Shenzhen,slightly higher than the average level of the province. The most common mutation of non-deletion alpha thalassemia is WS,which is different with the previous report.