title: Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China.
abstract: OBJECTIVE
  Thalassemia is one of the most frequent hereditary hemoglobin (Hb) disorders in southern China. Accurate population frequency data are needed for planning the control of thalassemia in the high-risk Guilin, the southern region of China.
  
  
  METHODS
  Anemia patients (n=11,143) from the Guilin Region of the Guangxi Zhuang Autonomous Region of southern China were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB), and direct sequencing methods.
  
  
  RESULTS
  Of these patients, 4365 (39.17%) were diagnosed with α-thalassemia (α-thal), 2643 (23.72%) with β-thalassemia (β-thal), and 263 (2.36%) as carriers of both α- and β-thal. The diagnosed α-thal anomalies were related to 6 gene mutations and 27 genotypes, with the most common α-thal mutations being -(SEA) (61.37%), -α(3.7) (18.52%), -α(4.2) (6.80%), and α(CS)α (6.64%). The β-thal anomalies were related to 14 gene mutations and 30 genotypes, with the seven most common mutations [CD41-42 (-TTCT) (52.02%), CD17 (A>T) (22.12%), IVS-II-654 (C>T) (11.29%), -28 (A>G) (5.01%), CD71-72 (4.04%), CD26 (2.28%), and -29 (1.83%)] accounting for 98.58% of the β-globin gene mutations. In addition, CD37 (TGG→TAG) and CD 30 (A→G) were two particularly rare dominant β-thal mutations in Chinese populations.
  
  
  CONCLUSIONS
  Our data suggested that the population in Guilin are at high risk of α- and β-thalassemia. The results of this study will be useful for genetic counseling and the prevention of severe thalassemia in the Guilin Region.
authors.affiliation: Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: tangwenjun56@qq.com.
authors.forename: Wenjun
authors.initials: W
authors.lastname: Tang
authors.affiliation: Department of Clinical Laboratory, Guilin Women and Children Care Hospital, Guilin, Guangxi, China. Electronic address: 1019953306@qq.com.
authors.forename: Chonglin
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Obstetrics and Gynecology, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: 2842322584@qq.com.
authors.forename: Fangfang
authors.initials: F
authors.lastname: Lu
authors.affiliation: Department of Clinical Laboratory, Guilin Women and Children Care Hospital, Guilin, Guangxi, China. Electronic address: 875200286@qq.com.
authors.forename: Juan
authors.initials: J
authors.lastname: Tang
authors.affiliation: Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: twj.abc@163.com.
authors.forename: Yu
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Department of Clinical Laboratory, Guilin Women and Children Care Hospital, Guilin, Guangxi, China. Electronic address: 540925911@qq.com.
authors.forename: Xiu
authors.initials: X
authors.lastname: Cui
authors.affiliation: Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: qinxue919@126.com.
authors.forename: Xue
authors.initials: X
authors.lastname: Qin
authors.affiliation: Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: lis8858@126.com.
authors.forename: Shan
authors.initials: S
authors.lastname: Li
mesh_terms: D002681:China; D005787:Gene Frequency / Q000235:genetics; D005817:Genetic Counseling / Q000379:methods; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017085:alpha-Thalassemia / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055544:beta-Globins
keywords: Guilin Region; Mutation; Spectrum; Thalassemia