title: [Prevalence and molecular analysis of α-thalassemia in preschool children in Chongqing city].
abstract: OBJECTIVE
  To investigate the incidence and the gene mutation frequencies and patterns of α-thalassemia in preschool children in Chongqing city.
  
  
  METHODS
  Cluster random sampling was used. A total of 1057 preschool children in three areas of Chongqing were screened by using routine blood test and hemoglobin electrophoresis analysis. Molecular analysis carried out for all the samples.
  
  
  RESULTS
  Of the 1057 samples, 55 cases were diagnosed as being carriers of α-thalassemia, which included 80 allele genes. Therefore, the frequency of α-thalassemia carriers in Chongqing was 5.20%. Of the 55 α-thalassemia carriers, five different deletions of α-thalassemia were identified, the three most common deletion types and proportions were 54.55% for the -α(3.7) deletion, 18.18% for --(SEA) deletion, and 9.08% for the -α(4.2) deletion, respectively; eight types of nondeletion defects were determined, containing one case of Hb Quong Sze and seven novel mutations of a-globin gene. Furthermore, 24 cases of α-Triplication were detected with the α-Triplication carrier rate of 2.55%. In addition, in this study we also found two cases of abnormal hemoglobin disorders occurred on α-globin gene, Hb J-Wenchang-Wuming and Hb Arya. Hb Arya was characterized in the Chinese population for the first time confirmed by literature retrieval.
  
  
  CONCLUSIONS
  In this study, we have clarified the carrier frequency and molecular spectrum of α-thalassemia in Chongqing, and we first reported the carrier incidence of α-Triplication in Chongqing. The materials obtained from this study would be of valuable reference for genetic counseling and the examination instruction of children in this area.
authors.affiliation: Hematology and Oncology Insitute, Childen's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Yu
authors.affiliation: Hematology and Oncology Insitute, Childen's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Xian
authors.affiliation: Hematology and Oncology Insitute, Childen's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Xiuyun
authors.initials: X
authors.lastname: Yao
authors.affiliation: Hematology and Oncology Insitute, Childen's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Jianwen
authors.initials: J
authors.lastname: Xiao
authors.affiliation: Hematology and Oncology Insitute, Childen's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Key Laboratory of Pediatrics in Chongqing, Chongqing International Science and Technology Cooperation Center for Child Development and Disorders, Chongqing 400014, China.
authors.forename: Haiyan
authors.initials: H
authors.lastname: Liu
authors.forename: Shiping
authors.initials: S
authors.lastname: Chen
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.forename: Yumei
authors.initials: Y
authors.lastname: Zhang
authors.forename: Zhenzi
authors.initials: Z
authors.lastname: Qin
authors.forename: Rong
authors.initials: R
authors.lastname: Fan
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Zhong
mesh_terms: D044466:Asian People; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D009154:Mutation; D015995:Prevalence; D055542:alpha-Globins / Q000378:metabolism; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000378:metabolism
chemical_list: D055542:alpha-Globins