The value of combined tests of hemoglobin electrophoresis and genetic testing in neonatal cord blood screening for β-thalassemia
10.3969/j.issn.1673-4130.2016.19.012
- VernacularTitle:脐带血血红蛋白电泳联合基因检测β-珠蛋白生成障碍性贫血的诊断价值
- Author:
Li LIN
;
Qiuli CHEN
;
Yuan WEI
;
Biyan CHEN
;
Liang WANG
;
Sheng HE
- Publication Type:Journal Article
- Keywords:
cord blood;
hemoglobin electrophoresis;
prenatal diagnosis;
thalasemia
- From:
International Journal of Laboratory Medicine
2016;37(19):2689-2691
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinic utility of Hb A level in neonatal cord blood screening for β‐thalassemia .Methods A total of 1 599 neonatal cord specimens whose parents were carriers of β‐thalassemia prenatal diagnosised by routine molecular genet‐ic were collected by cordocentesis .These samples were analyzed by the capillary electrophoresis system (Sebia) .Results Among 1 599 fetuses ,186 were diagnosed as β‐thalassemia carriers ,68 were β‐thalasseima intermedia/major .ROC analysis demonstrated that the optimal cutoff value for identifying β‐thalassemia carrier from the Hb A level was 5 .15% (sensitivity = 83 .9% , specificity = 82 .3% ) ,and that was 3 .2% for β‐thalasseima intermedia/major (sensitivity = 100 .0% ,specificity = 99 .4% ) .Conclu‐sion The Hb A level of cord blood was an effective marker to screen the β‐thalassemia for fetuses and is therefore well‐suited for clinical diagnostic use .
