title: [Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi].
abstract: OBJECTIVE
  To investigate the gene frequencies and mutation patterns of alpha thalassemia (alpha-thal) and beta thalassemia (beta-thal) in Liuzhou city of Guangxi Zhuang Autonomous Region.
  
  
  METHODS
  Cluster sampling was used. A total of 1 028 of umbilical blood samples were collected for a prevalence study of alpha-thal and a total of 1 312 healthy young people when receiving pre-marriage consultation were recruited for a beta-thal prevalence survey. Individuals live in city or town area of Liuzhou. A complete blood count as well as hemoglobin electrophoresis analysis were done in all of samples for phenotyping of alpha and beta-thals. Those with Hb Bart's for alpha-thal indicator and those with both microcytosis (MCV < 85 fl) and elevated levels of Hb A(2) (>/=4.0%) for beta-thal were further studied by DNA analysis. PCR-based methodologies were used to characterize the mutation contributions of alpha and beta-thals. All the subjects were tested for the state of carrying beta-thala alleles for evaluating the situation of the compound heterozygotes of alpha-thal with beta-thal.
  
  
  RESULTS
  Of 1 028 random samples of umbilical blood screened, 112 of subjects were defined to be the gene carriers of alpha-thal. The alpha-thal carrier rate was as high as 11.19% including 3 compound heterozygotes. Five well-known types of alpha-thal alleles were detected with gene contributions of 37.4% (--(SEA) deletion), 31.3% (-alpha(3.7) deletion), 17.4% (-alpha(4.2) deletion), 12.1% (alpha(CS)alpha mutation), and 0.9% (alpha(QS)alpha mutation), successively. Of the 1 312 adult specimens studied, 89 with beta-thal including 14 of the compound higher Hb F subjects were detected. All of the 89 phenotypic beta-thal carriers had the mutations in the beta-globin gene, making the overall prevalence 6.78%. The commonly seen three mutations, beta CD41 - 42 (-CTTT) frameshift, beta CD17 (T-A) nonsense mutation and beta-28 (A-G) promoter variation were accounted for 90% of the beta-thal alleles in Liuzhou. Of these beta-thal subjects, 16 (accounting for 18%) were found to be the compound heterozygosity for a beta-thal and an alpha-thal with 9 different types of gene defects with a detection rate 1.22%.
  
  
  CONCLUSIONS
  Data from ecidation of alpha and beta-thal gene frequencies and mutation spectrum in Liuzhou city was useful for genetic counselling and prenatal diagnosis of this disease.
authors.affiliation: Women and Children's Health Care Hospital of Liuzhou City, Guangxi, Liuzhou 545001, China.
authors.forename: Ren
authors.initials: R
authors.lastname: Cai
authors.forename: Liyan
authors.initials: L
authors.lastname: Li
authors.forename: Xin
authors.initials: X
authors.lastname: Liang
authors.forename: Zhongying
authors.initials: Z
authors.lastname: Liu
authors.forename: Liu
authors.initials: L
authors.lastname: Su
authors.forename: Wenjun
authors.initials: W
authors.lastname: Li
authors.forename: Qiangui
authors.initials: Q
authors.lastname: Zhu
authors.forename: Qiuhua
authors.initials: Q
authors.lastname: Mo
authors.forename: Lizhen
authors.initials: L
authors.lastname: Pan
authors.forename: Hong
authors.initials: H
authors.lastname: Ouyang
authors.forename: Lihua
authors.initials: L
authors.lastname: Huang
authors.forename: Xiangmin
authors.initials: X
authors.lastname: Xu
mesh_terms: D000328:Adult; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D015995:Prevalence; D017085:alpha-Thalassemia / Q000453:epidemiology* / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics