Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay

Genet Test. Winter 2001;5(4):327-9. doi: 10.1089/109065701753617471.

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.

MeSH terms

  • Globins / genetics*
  • Humans
  • Infant, Newborn / blood
  • Point Mutation*
  • Polymerase Chain Reaction / methods*
  • Sensitivity and Specificity
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*

Substances

  • Globins