title: [Molecular and prenatal diagnosis for a Chinese pregnant woman with a novel mutation of β thalassemia].
abstract: OBJECTIVE
  To conduct molecular and prenatal diagnosis for a couple with β thalassemia.
  
  
  METHODS
  Blood routine examination and hemoglobin analysis were used for screening of thalassemia. Seventeen common Chinese mutations of β thalassemia were detected for the carriers with β thalassemia using PCR/RDB. The unknown mutation of β thalassemia was identified by DNA sequencing and DHPLC analysis.
  
  
  RESULTS
  The husband was heterozygote of CD41/42 (-TCTT). The wife carried a mutation IVS-I-110 (G→A) of β thalassemia having not been reported in Chinese so far. The fetus was a double mutated heterozygote of IVS-I-110 (G→A) and CD41/42 (-TCTT). The pregnancy was terminated.
  
  
  CONCLUSIONS
  Mutation IVS-I-110 (G→A) of β thalassemia in Chinese is of importance to the genetic counseling and prenatal diagnosis of thalassemia.
authors.affiliation: Center for Prenatal Diagnosis, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen 518048, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Hao
authors.forename: Zhi-yong
authors.initials: ZY
authors.lastname: Xu
authors.forename: Qing
authors.initials: Q
authors.lastname: Jin
authors.forename: Wei-qing
authors.initials: WQ
authors.lastname: Wu
authors.forename: Jun
authors.initials: J
authors.lastname: Cai
authors.forename: Cai-qun
authors.initials: CQ
authors.lastname: Luo
authors.forename: Jian-sheng
authors.initials: JS
authors.lastname: Xie
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics*; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*