title: The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China.
abstract: This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45% subjects have only α-thal mutations with high frequencies of -α(4.2) and -α(3.7), but fewer --(SEA) mutation; 3.83% have β-thal mutations all identified to be 41/42 (-TCTT); whereas 7.99% carry both α-thal and β-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16% subjects have only α-thal mutations with --(SEA) and -α(3.7) the most frequent mutation types, 6.11% have only β-thal mutations of 7 types, whereas 4.85% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of -α(4.2) and -α(3.7) thalassemia, low frequencies of α-thal -(SEA), and a novel β mutation, 41/42 (-TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China.
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China. Electronic address: Yaohongxia768@163.com.
authors.forename: Hongxia
authors.initials: H
authors.lastname: Yao
authors.affiliation: Department of Central Laboratory, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Xinping
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Lie
authors.initials: L
authors.lastname: Lin
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Congming
authors.initials: C
authors.lastname: Wu
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Xiangjun
authors.initials: X
authors.lastname: Fu
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Hua
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Yao
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Wenting
authors.initials: W
authors.lastname: Chen
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Li
authors.initials: L
authors.lastname: Huang
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Ruimei
authors.initials: R
authors.lastname: Tang
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Ruo
authors.initials: R
authors.lastname: Rao
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Suwen
authors.initials: S
authors.lastname: Wang
authors.affiliation: Department of Hematology, People's Hospital of Hainan Province, Haikou 570311, PR China.
authors.forename: Yipeng
authors.initials: Y
authors.lastname: Ding
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D005006:Ethnicity / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D005843:Geography; D006801:Humans; D015994:Incidence; D007223:Infant; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000453:epidemiology / Q000235:genetics*; D055544:beta-Globins / Q000235:genetics; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055542:alpha-Globins; D055544:beta-Globins
keywords: Genetic diagnosis; Hainan Province; Han people; Li people; Population genetics; Thalassemia