Abstract
We report the characterization of five novel δ-globin gene mutations detected during routine screening for thalassemia. Three missense mutations were identified, resulting in the following δ chain hemoglobin (Hb) variants: Hb A2-Acacias [δ4 (ACT>AGT), Thr→Ser, HBD c.14C>G], Hb A2-Toronto [δ74 (GGC>GAC), Gly→Asp, HBD c.224G>A], and Hb A2-Calgary [δ99 (GAT>GGT), Asp→Gly, HBD c.299A>G]. Two other mutations most likely result in δ0-thalassemia (δ0-thal). One mutation altered the translation initiation codon from ATG to ATA (HBD c.3G>A), and another changed the canonical splice donor sequence of IVS-II from GT to AT (HBD C.315+1G>A).