title: Molecular epidemiological characterization and health burden of thalassemia in Jiangxi Province, P. R. China.
abstract: BACKGROUND
  Thalassemia is the most common inherited disease in southern China. However, this disorder is usually ignored by Jiangxi provincial health system and government due to lack of epidemiological data.
  
  
  METHODS
  A total of 9489 samples from Hakka Han and Gan-speaking Han in three geographical areas of Jiangxi Province were analyzed for both complete blood cell (CBC) count and reverse dot blot (RDB) gene chip for thalassemia.
  
  
  RESULTS
  1182 cases of suspected thalassemia carriers with microcytosis (MCV<82 fL) were found by CBC count, and were tested by RDB gene chip to reveal a total of 594 mutant chromosomes, including 433 α-thalassemia mutant chromosomes and 172 β-thalassemia mutant chromosomes. Our results indicated a higher prevalence of thalassemia with the heterozygote frequency of 9.49% in southern Jiangxi province, whereas the low frequency was found in middle (3.90%) and northern Jiangxi (2.63%).
  
  
  CONCLUSIONS
  Based on the epidemiological data, the estimated numbers of pregnancies in Jiangxi province in which the fetus is at risk for β-thalassemia major or intermedia, Bart's hydrops fetalis and Hb H disease are 34 (95% CI, 16 to 58), 79 (95% CI, 50 to 114) and 39 (95% CI, 27 to 58) per year, respectively. We suggested that prevention network of thalassemia should be established, especially in high prevalent southern Jiangxi (Hakka Han), including establishment of thalassemia database collection, hematological analysis laboratories, genetic counselling clinics, prenatal diagnosis centers and neonatal screening centers.
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Min
authors.initials: M
authors.lastname: Lin
authors.affiliation: Medical Laboratory, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, People's Republic of China.
authors.forename: Tian-Yu
authors.initials: TY
authors.lastname: Zhong
authors.affiliation: Medical Laboratory, Jiangxi Provincial People's Hospital, Nanchang, Jiangxi Province, People's Republic of China.
authors.forename: Yi-Guo
authors.initials: YG
authors.lastname: Chen
authors.affiliation: Medical Laboratory, Central Hospital of Iron Industry Limited Corporation of Xinyu, Xinyu, Jiangxi Province, People's Republic of China.
authors.forename: Jian-Zhong
authors.initials: JZ
authors.lastname: Wang
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Jiao-Ren
authors.initials: JR
authors.lastname: Wu
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Fen
authors.initials: F
authors.lastname: Lin
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Xin
authors.initials: X
authors.lastname: Tong
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Hui-Tian
authors.initials: HT
authors.lastname: Yang
authors.affiliation: Medical Laboratory, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, People's Republic of China.
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Hu
authors.affiliation: Medical Laboratory, First Affiliated Hospital of Gannan Medical University, Ganzhou, Jiangxi Province, People's Republic of China.
authors.forename: Rong
authors.initials: R
authors.lastname: Hu
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Xiao-Fen
authors.initials: XF
authors.lastname: Zhan
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Hui
authors.initials: H
authors.lastname: Yang
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Zhao-Yun
authors.initials: ZY
authors.lastname: Luo
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Wen-Yu
authors.initials: WY
authors.lastname: Li
authors.affiliation: Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong Province, People's Republic of China.
authors.forename: Li-Ye
authors.initials: LY
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001772:Blood Cell Count; D002681:China / Q000453:epidemiology; D017281:Cost of Illness; D003625:Data Collection; D005260:Female; D064368:Healthy Volunteers; D006801:Humans; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D009154:Mutation; D015995:Prevalence; D055815:Young Adult; D017085:alpha-Thalassemia / Q000097:blood / Q000191:economics* / Q000453:epidemiology* / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000191:economics* / Q000453:epidemiology* / Q000235:genetics