Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China

• Published in: BMC medical genomics Vol. 14; no. 1; pp. 97 - 8
• Main Authors: Luo, Xi, Zhang, Xiang-mei, Wu, Liu-song, Chen, Jindong, Chen, Yan
• Format: Journal Article
• Language: English
• Published: England BioMed Central 07.04.2021; BMC
• Subjects: Adolescent; Adult; alpha-Globins - genetics; alpha-Thalassemia - epidemiology; alpha-Thalassemia - genetics; Anemia; Child; Child, Preschool; China - epidemiology; Deoxyribonucleic acid; DNA; DNA sequencing; Epidemiology; Ethnicity; Ethnicity - genetics; Female; Genes; Genetic counseling; Genomes; Genotype; Genotype & phenotype; Genotypes; Geographical distribution; Geography; Hemoglobin; Humans; Male; Middle Aged; Minority & ethnic groups; Mutation; Peripheral blood; Phenotype; Phenotypes; Polymerase chain reaction; Population; Population genetics; Prevalence; Thalassemia; Triplicated α-globin genes; Variance analysis; Young Adult; α-globin triplication; β-thalassemia; China; Beijing China; United States > US; Prevalence; Triplicated α-globin genes; α-globin triplication; Anemia; Epidemiology; Population genetics; β-thalassemia

α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype-phenotype correlation in this subpopulation METHODS: A co...