Rapid detection of alpha-thalassaemia deletions and alpha-globin gene triplication by multiplex polymerase chain reactions

Br J Haematol. 2000 Feb;108(2):295-9. doi: 10.1046/j.1365-2141.2000.01870.x.


We describe a sensitive, reliable and reproducible method, based on three multiplex PCR assays, for the rapid detection of seven common alpha-thalassaemia deletions and one alpha-globin gene triplication. The new assay detects the alpha0 deletions - -SEA, - (alpha)20.5, - -MED, - -FIL and - -THAI in the first multiplex PCR, the second multiplex detects the -alpha3.7 deletion and alphaalphaalphaanti3.7 variant, the third multiplex detects the -alpha4.2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where alpha-thalassaemias are prevalent.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Deletion*
  • Gene Duplication*
  • Globins / genetics*
  • Humans
  • Polymerase Chain Reaction / methods*
  • Sensitivity and Specificity
  • alpha-Thalassemia / diagnosis
  • alpha-Thalassemia / genetics*


  • Globins