title: The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.
abstract: OBJECTIVE
  To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.
  
  
  METHODS
  A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.
  
  
  RESULTS
  A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands, 16.03% of neonates, and 16.83% of couples (pregnant women and their husbands) were heterozygous carriers of α- or β-thalassemia. The regions with the highest prevalence were the mountainous and western regions, followed by the Pearl River Delta; the region with the lowest prevalence was Chaoshan. The total familial carrier rate (both spouses were α- or β-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and β-thalassemia were 1.68% and 0.20%, respectively. The total rate of moderate-to-severe fetal thalassemia was 12.78% among couples in which both parents were carriers.
  
  
  CONCLUSIONS
  There was a high prevalence of α- and β-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province.
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Aihua
authors.initials: A
authors.lastname: Yin
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Bing
authors.initials: B
authors.lastname: Li
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Mingyong
authors.initials: M
authors.lastname: Luo
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Longchang
authors.initials: L
authors.lastname: Xu
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wu
authors.affiliation: BioChain (Beijing) Science and Technology Inc., Beijing, China.
authors.forename: Liang
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Yuanzhu
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Chen
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Shuang
authors.initials: S
authors.lastname: Gao
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Juqing
authors.initials: J
authors.lastname: Liang
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Guo
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Danqing
authors.initials: D
authors.lastname: Qin
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Jicheng
authors.initials: J
authors.lastname: Wang
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Tenglong
authors.initials: T
authors.lastname: Yuan
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Yixia
authors.initials: Y
authors.lastname: Wang
authors.affiliation: BioChain (Beijing) Science and Technology Inc., Beijing, China.
authors.forename: Wei-wei
authors.initials: WW
authors.lastname: Huang
authors.affiliation: BioChain (Beijing) Science and Technology Inc., Beijing, China.
authors.forename: Wen-Fei
authors.initials: WF
authors.lastname: He
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Yanxia
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Chang
authors.initials: C
authors.lastname: Liu
authors.affiliation: Department of Epidemiology, Medical College, Jinan University, Guangzhou, Guangdong, China.
authors.forename: Sujian
authors.initials: S
authors.lastname: Xia
authors.affiliation: Department of Health Statistics, Medical College, Jinan University, Guangzhou, Guangdong, China.
authors.forename: Qingshan
authors.initials: Q
authors.lastname: Chen
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Qingguo
authors.initials: Q
authors.lastname: Zhao
authors.affiliation: Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
authors.forename: Xiaozhuang
authors.initials: X
authors.lastname: Zhang
mesh_terms: D002681:China / Q000453:epidemiology; D003062:Codon; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D062306:Geography, Medical; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D059645:Mutation Rate; D011247:Pregnancy; D015995:Prevalence; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D003062:Codon; D055542:alpha-Globins; D055544:beta-Globins