title: Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles.
abstract: We report the characterization of five novel delta-globin gene mutations detected during routine screening for thalassemia. Three missense mutations were identified, resulting in the following delta chain hemoglobin (Hb) variants: Hb A(2)-Acacias [delta4 (ACT>AGT), Thr-->Ser, HBD c.14C>G], Hb A(2)-Toronto [delta74 (GGC>GAC), Gly-->Asp, HBD c.224G>A], and Hb A(2)-Calgary [delta99 (GAT>GGT), Asp-->Gly, HBD c.299A>G]. Two other mutations most likely result in delta(0)-thalassemia (delta(0)-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).
authors.affiliation: Institute for Medical & Molecular Diagnostics Ltd., Zürich, Switzerland.
authors.forename: Hannes
authors.initials: H
authors.lastname: Frischknecht
authors.forename: Heinz
authors.initials: H
authors.lastname: Troxler
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Dutly
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: Betty-Ann
authors.initials: BA
authors.lastname: Hohenadel
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D000328:Adult; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D018387:Codon, Initiator / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D055546:delta-Globins / Q000235:genetics*
chemical_list: D018387:Codon, Initiator; D022821:RNA Splice Sites; D055546:delta-Globins