The Gene Diagnosis of 175 Children with Thalassemia

Objective To study the characteristic of the gene expression of children α and βthalassemia in Shenzhen area. Methods 175 cases of thalassemia children were tested for the gene analysis by using gap-PCR and PCR/RDB technology. Results Among all the patients, 70 cases of α thalassemia (54 with α α/--SEA, 16 with HbH) and 105 cases of β thalassemia including 9 common mutations were detected. The frequencies of the common β thalassemia were CD41-42 (-CTTT) 0.430,IVS-2nt654(C→T) 0.316,CD17(A→ T) 0.105,TATA box nt-28(A→G) 0.053 and CD43(G→T) 0.035 respectively. Conclusion The frequencies of children thalassemia in Shenzhen area were similar to those in other areas in Guangdong province. The occurrence of thalassemia is frequent in Shenzhen area and genetic counseling and prenatal diagnosis of thalassemia in this area are extremely important.