title: Neonatal screening for α-thalassemia by cord hemoglobin Barts: how effective is it?
abstract: BACKGROUND
  It has long been recognized that the hemoglobin (Hb) Bart's in cord blood is an accurate indicator of α-thalassemia and that the level of Hb Bart's was increased accordingly with the increasing numbers of the defective α-genes.
  
  
  METHODS
  This study used an automatic capillary electrophoresis system to determine the Hb Bart's levels in cord blood. Molecular analyses were used to detect various genotypes of α-thalassemia.
  
  
  RESULTS
  Sixty-nine of the total 1169 newborns were found to have an increased Hb Bart's in cord blood, in whom the diagnosis of α-thalassemia was confirmed by the DNA analysis. The remaining 1100 newborns had no detectable Hb Bart's at birth; among these, 45 carriers of silent α-thalassemia were diagnosed by DNA analysis. All the 45 cases had only the -α(3.7) deletion genotype.
  
  
  CONCLUSIONS
  For newborns of one α-gene mutation, especially for 3.7-kb deletion, the method based on Hb Bart's is inadequate and is therefore not reliable for screening.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: M-Y
authors.initials: MY
authors.lastname: Wu
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: X-M
authors.initials: XM
authors.lastname: Xie
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
authors.forename: D-Z
authors.initials: DZ
authors.lastname: Li
mesh_terms: D005312:Fetal Blood; D005838:Genotype; D006455:Hemoglobins, Abnormal; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D055542:alpha-Globins / Q000235:genetics / Q000378:metabolism; D017085:alpha-Thalassemia / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C030448:hemoglobin Bart's
keywords: capillary electrophoresis; hemoglobin Bart's; newborns; screening; α-Thalassemia