Three novel HBB mutations, c.-140C > G (-90 C > G), c.237_256delGGACAACCTCAAGGGCACCT (FS Cd 78/85-20bp), and c.315+2T > G (IVS2:2 T > G). Update of the mutational spectrum of beta-Thalassemia in Mexican mestizo patients

摘要

Introduction: Beta-thalassemia (beta-thal) is frequent in Mexican patients with microcytosis and hypochromia. We report three novel mutations and analyze the actual mutational spectrum in Mexican population.