Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.
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.
Eng
B
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Provincial Hemoglobinopathy DNA Diagnostic Laboratory, Hamilton Regional Laboratory Medicine Program, McMaster University Medical Centre, Hamilton, Ontario, Canada L8N 3Z5.
Patterson
M
M
Walker
L
L
Chui
D H
DH
Waye
J S
JS
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*
D005914:Globins