title: Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.
abstract: Alpha-thalassemia is a common hereditary anemia due to decreased or absent synthesis of alpha-globin chains. The most common causes of alpha-thalassemia are deletions that remove one or both functional alpha-globin genes, with a small proportion of cases involving nondeletional mutations of the alpha2- or alpha1-globin genes. Herein, we describe a single-tube multiplex amplification refractory mutation system (ARMS) assay for rapid detection of six of the most common and severe nondeletional alpha-thalassemia mutations. These alleles are found predominantly among southeast Asian populations, and are associated with the most severe forms of hemoglobin (Hb) H disease or Hb H hydrops fetalis.
authors.affiliation: Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, McMaster University Medical Centre, Hamilton, Ontario, Canada L8N 3Z5.
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: M
authors.initials: M
authors.lastname: Patterson
authors.forename: L
authors.initials: L
authors.lastname: Walker
authors.forename: D H
authors.initials: DH
authors.lastname: Chui
authors.forename: J S
authors.initials: JS
authors.lastname: Waye
mesh_terms: D005914:Globins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn / Q000097:blood; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D012680:Sensitivity and Specificity; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins