Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

This study investigated prenatal diagnosis of α-thalassemia and β-thalassemia in 3049 families 18 regions Hainan Province. Molecular was performed couples with thalassemia Genomic DNA extracted from peripheral blood the villus, amniotic fluid, or cord fetuses. DNA-based using polymerase chain reaction. The most commonly detected mutation for was− SEA/αα (31.53%), followed by − α4.2/αα (11.15%) α3.7/αα (11.02%). common CD41/42 (30.27%), 28 (2.56%). Prevalence highest coastal lowest Wenchang, Lingao, Ding’an regions. We also found that gene mutations Han people other minority groups were not homogeneous. Prenatal showed 556 normal fetuses, 116 hydrops, 134 major. Our findings provide important information clinical genetic counseling regarding major