title: Molecular Epidemiological Characterization and Health Burden of Thalassemias in the Chaoshan Region, People's Republic of China.
abstract: Thalassemia is one of the most prevalent inherited disease in southern China. However, there have been only a few epidemiological studies of thalassemia in the Chaoshan region of Guangdong Province, People's Republic of China (PRC). A total of 6231 unrelated subjects in two main geographical cities of the Chaoshan region was analyzed for thalassemia. Seven hundred and thirty-six cases of suspected thalassemia carriers with microcytosis [mean corpuscular volume (MCV) <82.0 fL] were found by complete blood cell (CBC) count, and were tested by reverse dot-blot gene chip to reveal a total of 331 mutant chromosomes, including 278 α-thalassemia (α-thal) alleles and 53 β-thalassemia (β-thal) alleles. The most common α-thal mutations were the Southeast Asian (- -(SEA)), followed by the -α(3.7) (rightward) and -α(4.2) (leftward) deletions. The two most common β-thal mutations were HBB: c.316-197C>T and HBB: c.126_129delCTTT, accounting for 69.81% of the β-thal defects in the studied individuals. In addition, a rare mutation, Cap +1 (A>C) (HBB: c.-50A>C) was described for the first time in the Chaoshan region. Our results gave a heterozygote frequency of 5.31% for common α- and β-thal in the Chaoshan region, and also indicated a higher prevalence of thalassemia with a heterozygote frequency of 6.29% in Chaozhou, followed by Shantou (3.37%). This study provided a detailed prevalence and molecular characterization of thalassemia in the Chaoshan region, and will be valuable for developing a strategy for prevention of thalassemia and reducing excessive health care costs in this area.
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Xiangbin
authors: X
authors: Zheng
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Min
authors: M
authors: Lin
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Hui
authors: H
authors: Yang
authors: b Laboratory Medical Center , First Affiliated Hospital of Shantou University Medical College , Shantou, Guangdong Province , People's Republic of China.
authors: Mei-Chen
authors: MC
authors: Pan
authors: b Laboratory Medical Center , First Affiliated Hospital of Shantou University Medical College , Shantou, Guangdong Province , People's Republic of China.
authors: Ying-Mu
authors: YM
authors: Cai
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Jiao-Ren
authors: JR
authors: Wu
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Fen
authors: F
authors: Lin
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Xiao-Fen
authors: XF
authors: Zhan
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Zhao-Yun
authors: ZY
authors: Luo
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Hui-Tian
authors: HT
authors: Yang
authors: a Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University , Chaozhou, Guangdong Province , People's Republic of China.
authors: Li-Ye
authors: LY
authors: Yang
mesh_terms: D000483:Alleles; D002681:China / Q000453:epidemiology; D005787:Gene Frequency; D005838:Genotype; D005843:Geography; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D009154:Mutation; D011159:Population Surveillance; D015995:Prevalence; D013789:Thalassemia / Q000453:epidemiology* / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal
keywords: Chaoshan region; health burden; molecular epidemiological survey; mutation; thalassemia