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

Abstract Background ?-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations ?-globin gene aberration for genetic counseling, we examined prevalence triplication and genotype–phenotype correlation this subpopulation Methods A cohort 7644 subjects was selected from nine ethnicities covering four regions Peripheral blood collected each participant routine testing hemoglobin electrophoresis. PCR-DNA sequencing Gap-PCR were used to identify thalassemia mutations. Chi-square tests one-way analysis variance (ANOVA) statistically analyze data. Results We found that frequency 0.772% (59/7644). Genotypically, ??? anti4.2 /?? accounted 0.523% (40/7644), anti3.7 0.235% (18/7644), /– SEA 0.013% (1/7644). The more prevalent than Guizhou. In addition, HK??/?? (that by GAP-PCR like /-? 3.7 ) (18/7644). Ethnically, Tujia group presented highest (2.47%) triplication. Geographically, identified Qiannan region (2.23%). Of triplicated cases, 5 coinherited with heterozygote ?-thalassemia various anemia. Conclusions These data will be update Chinese database provide insights into pathogenesis thalassemia. findings helpful diagnosis future counseling those regions.