title: Identification of the -α(2.4) Deletion in One Family and in One Hb H Disease Patient in Guangxi, People's Republic of China.
abstract: The 2.4 kb (or -α(2.4)) deletion in the α-globin gene cluster (NG_000006.1) is an α(+)-thalassemia (α(+)-thal) allele. The molecular basis of -α(2.4) is a deletion from 36860 to 39251 of the α-globin gene cluster. It was reported by three research groups in 2005, 2012 and 2014, respectively. In routine thalassemia screening studies by this research group, we found an individual with the -α(2.4)/αα genotype and an Hb H (β4) disease patient whose genotype was - -(SEA)/-α(2.4). Samples from the parents of the carrier of the -α(2.4)/αα genotype were collected to perform pedigree analysis, and the proband's mother's genotype was diagnosed to be - -(SEA)/-α(2.4). The research revealed that the -α(2.4) allele exists in the population of southern Guangxi, People's Republic of China.
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Wanrong
authors.initials: W
authors.lastname: Pang
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.|b Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Lei
authors.initials: L
authors.lastname: Sun
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.|b Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases , Qinzhou , Guangxi , People's Republic of China.|c College of Ocean, Qinzhou University , Qinzhou , Guangxi , People's Republic of China and.
authors.forename: Ju
authors.initials: J
authors.lastname: Long
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.|b Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Xunjin
authors.initials: X
authors.lastname: Weng
authors.affiliation: b Qinzhou Key Laboratory of Molecular and Cell Biology on Endemic Diseases , Qinzhou , Guangxi , People's Republic of China.|d Department of Endocrinology , The First People's Hospital of Qinzhou , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Xuehe
authors.initials: X
authors.lastname: Ye
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Junjie
authors.initials: J
authors.lastname: Wang
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Liao
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Weijun
authors.initials: W
authors.lastname: Tang
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Zuqian
authors.initials: Z
authors.lastname: Fan
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Suping
authors.initials: S
authors.lastname: Wu
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Chuanlu
authors.initials: C
authors.lastname: Song
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Xiaoying
authors.initials: X
authors.lastname: Wei
authors.affiliation: a Laboratory of Medical Genetics , Qinzhou Maternal and Child Health Care Hospital , Qinzhou , Guangxi , People's Republic of China.
authors.forename: Chenghong
authors.initials: C
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D002681:China / Q000453:epidemiology; D005260:Female; D005838:Genotype; D006447:Hemoglobin H / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D008297:Male; D017720:Molecular Epidemiology; D010375:Pedigree; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D006447:Hemoglobin H
keywords: People’s Republic of China (PRC); α+-Thalassemia (α+-thal); −α2.4 deletion; −α2.7 deletion