title: Identification of a new delta chain hemoglobin variant in a beta-thalassemia carrier: Hb A2-mumc [delta13(a10)Ala-->Asp].
abstract: We describe a case of beta-thalassemia (thal) trait in which the patient also carries a novel delta chain variant due to a missense mutation at amino acid codon 13 (GCC-->GAC, Ala-->Asp). The level of Hb A2 was not elevated, raising the potential for misdiagnosis.
authors.affiliation: Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.
authors.forename: Lynda
authors.initials: L
authors.lastname: Walker
authors.forename: Margie
authors.initials: M
authors.lastname: Patterson
authors.forename: Barry
authors.initials: B
authors.lastname: Eng
authors.forename: Andrew
authors.initials: A
authors.lastname: McFarlane
authors.forename: John S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D000328:Adult; D005838:Genotype; D006443:Hemoglobin A2 / Q000032:analysis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C508162:hemoglobin A2-Mumc; D006443:Hemoglobin A2