Establishment of the system of prenatal screening and prenatal diagnosis of thalassemia in Dongguan city

Objective To reduce birthrate of severe thalassemia children of this area and improve population diathesis.Methods The red blood cell indices analysis was carried out on all of the samples of 2 218 couples.GapPCR and RDB method were used for α-thalassemia genotyping and β-thalassemia genotyping.Results 277 cases of thalassemia (12.49％) were identified among the total cases.220 cases were with α-thalassemia(9.92％),which including 198 cases of--SEA/αα,11 cases of-α37/,7 cases of-α4.2/αα,57 cases were with β-thalassemia(2.57％),the types of mutation were CD41/42 (-TTCT),IVS2nt-654 (C→T),CD17 (A→T),-28 (A→G),TATAbox29 (A→G),CD71/72(+ A).42 carrier couples were detected for thalassemia and the fetuses were subjected prenatal diagnosis:3cases of Bart's edema,7 cases of β-thalassemia homozygote.Conclusions Neonates with major thalassemia can be clarified and even avoided by screening the incidence and types of genicmutations.Thus setting up the system of prenatal screening-prenatal diagnosis-selective abortion is effective to avoid the birth of neonates.And it is vital to improve the quality of human being. Key words: Thalassemia; Genetic screening; Prenatal diagnosis