title: Prevalence and molecular characterization of structural hemoglobin variants in the Dongguan region of Guangdong province, southern China.
abstract: The aim of the present study was to find the most prevalent structural hemoglobin (Hb) variants in southern China and to present hematological and molecular data of abnormal Hbs in the population from southern China. The type and frequency of structural Hb variants and their hematological and molecular characteristics were identified in 131 individuals from 30,848 unrelated partners who were referred to the prenatal clinic of Dongguan Maternal & Children Health Hospital, Dongguan, Guangdong, People's Republic of China (PRC) from 2011 to 2013. α-Globin or β-globin chain variants were screened using a capillary electrophoresis (CE) system, and α-globin or β-globin gene mutations were confirmed using sequencing techniques. The gene frequency of Hb variants was 0.4% (131/30,848). The most common α-globin variants were Hb Constant Spring (Hb CS, HBA2: c.427T > C) (0.2%), followed by Hb Q-Thailand (HBA1: c.223G > C) and Hb G-Honolulu (HBA2: c.91G > C). The most common β-globin variant was Hb E (HBB: c.79G > A) (0.09%), followed by Hb New York (HBB: c.341T > A). Our results provide a detailed prevalence and molecular characterization of abnormal Hbs in the population of the Dongguan region. These findings have important implications for a region with a high frequency of α- and β-thalassemias.
authors.affiliation: Prenatal Diagnostic Center, Dongguan Maternal & Children Health Hospital , Dongguan, Guangdong , People's Republic of China and.
authors.forename: Ji-Wu
authors.initials: JW
authors.lastname: Lou
authors.forename: Ting
authors.initials: T
authors.lastname: Wang
authors.forename: Yan-Hui
authors.initials: YH
authors.lastname: Liu
authors.forename: Yi
authors.initials: Y
authors.lastname: He
authors.forename: Bai-Mao
authors.initials: BM
authors.lastname: Zhong
authors.forename: Jian-Xin
authors.initials: JX
authors.lastname: Liu
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.forename: Wan-Ling
authors.initials: WL
authors.lastname: Ye
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D002681:China / Q000453:epidemiology; D014644:Genetic Variation; D005838:Genotype; D062306:Geography, Medical; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D006454:Hemoglobins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D009154:Mutation; D015995:Prevalence; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics
chemical_list: D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins
keywords: Gene frequency; People’s Republic of China (PRC); hemoglobinopathies; structural variants