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

We describe a sensitive, reliable and reproducible method, based on three m ultiplex PCR assays, for the rapid detection of seven common alpha-thalassa emia deletions and one alpha-globin gene triplication. The new assay detect s the alpha(0) deletions - -(SEA), - (alpha)(20+5), - -(MED,) - -(FIL), and - -(THAI) in the first multiplex PCR, the second multiplex detects the -al pha(3.7) deletion and alpha alpha alpha(anti3.7) variant, the third multipl ex detects the -alpha(4.2) deletion. This simple multiplex method should gr eatly facilitate the genetic screening and molecular diagnosis of these det erminants in populations where alpha-thalassaemias are prevalent.