title: [Prenatal diagnosis of Thailand deletion of α-thalassemia 1 families].
abstract: OBJECTIVE
  To conduct analysis and prenatal diagnosis on 11 couples carrying Thailand deletion (--(THΑI)) α-thalassemia 1, so as to provide information for clinical genetic counseling on α-thalassemia 1.
  
  
  METHODS
  Altogether 11 Thailand deletion (--(THΑI)) α-thalassemia 1 families were collected from Fujian Maternal and Children Health Hospital from May 2009 to September 2015. Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) technology were used to detect the thalassemia mutations in the couples and fetuses.
  
  
  RESULTS
  In one family, Thailand deletion α-thalassemia 1 was detected in both the pregnant woman and her husband. In 10 families, Thailand deletion α-thalassemia 1 was detected in either the pregnant women or the husband, while the spouses had α-thalassemia heterozygote (1 combined with β thalassemia heterozygote). Thailand deletion α-thalassemia 1 family members all had lower mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). In prenatal diagnosis of the 12 fetuses, 4 fetuses were found with hemoglobin(Hb) Bart's hydrops fetalis syndrome, 5 were with α-thalassemia heterozygote, and 3 were normal.
  
  
  CONCLUSIONS
  For couples with positive hematological phenotype but normal results in routine genetic examination of α-thalassemia, attention should be paid especially for with a history of having babies of hydrops fetalis syndrome or hemoglobin H disease. It is necessary to consider the possibility of the rare Thailand deletion (--(THΑI)) α-thalassemia 1. Prenatal diagnosis for high-risk families plays an important role.
authors.affiliation: Center of Prenatal Diagnosis, Fujian Matenal and Children Health Hospital, Fujian Medical University Teaching Hospital, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou 350001, China.
authors.forename: N
authors.initials: N
authors.lastname: Lin
authors.forename: Y
authors.initials: Y
authors.lastname: Lin
authors.forename: H L
authors.initials: HL
authors.lastname: Huang
authors.forename: X L
authors.initials: XL
authors.lastname: Lin
authors.forename: D Q
authors.initials: DQ
authors.lastname: He
authors.forename: S Q
authors.initials: SQ
authors.lastname: He
authors.forename: D H
authors.initials: DH
authors.lastname: Guo
authors.forename: Y
authors.initials: Y
authors.lastname: Li
authors.forename: L P
authors.initials: LP
authors.lastname: Xu
mesh_terms: D004909:Erythrocyte Indices; D005260:Female; D017353:Gene Deletion; D005817:Genetic Counseling; D005820:Genetic Testing; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D013785:Thailand; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C030448:hemoglobin Bart's