Establishment of the system of prenatal screening and prenatal diagnosis of thalassemia in Dongguan city
10.3760/cma.j.issn.1008-6706.2013.07.002
- VernacularTitle:广东省东莞地区地中海贫血产前筛查及产前诊断体系的建立
- Author:
Qianyu YAO
;
Mingzhen LI
;
Jianguo QIU
;
Qingping MO
;
Ming ZHONG
- Publication Type:Journal Article
- Keywords:
Thalassemia;
Genetic screening;
Prenatal diagnosis
- From:
Chinese Journal of Primary Medicine and Pharmacy
2013;20(7):964-966
- CountryChina
- Language:Chinese
-
Abstract:
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.
