Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia.
- VernacularTitle:异常血红蛋白合并东南亚型α地中海贫血一例的家系分析及产前诊断
- Author:
Li DU
1
;
Jing WU
;
Danqing QIN
;
Jicheng WANG
;
Mingyong LUO
;
Hao GUO
;
Tenglong YUAN
;
Yanxia ZHANG
;
Yixia WANG
;
Aihua YIN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Base Sequence; Child, Preschool; Female; Fetal Diseases; blood; diagnosis; genetics; Hemoglobins, Abnormal; genetics; metabolism; Humans; Male; Molecular Sequence Data; Pregnancy; Prenatal Diagnosis; Young Adult; alpha-Thalassemia; blood; diagnosis; embryology; genetics
- From: Chinese Journal of Medical Genetics 2015;32(2):226-228
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEDiagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia.
METHODSWhole blood cell analysis, hemoglobin analysis by capillary zone electrophoresis (CZE), Gap-PCR, polymerase chain reaction-reverse dot blot (PCR-RDB) assay and DNA sequencing.
RESULTSHb Zurich Albisrieden with α°-thalassemia lead to severe anemia. The genotype of fetus is also Hb Zurich Albisrieden with α°-thalassemia.
CONCLUSIONAbnormal hemoglobin with α-thalassemia may lead to severe anemia, Prenatal diagnosis of thalassemia has the vital significance for eugenic birth.
