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


Mr Yan-Tat Liu MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK.


We describe a sensitive, reliable and reproducible method, based on three multiplex PCR assays, for the rapid detection of seven common α-thalassaemia deletions and one α-globin gene triplication. The new assay detects the α0 deletions – –SEA, – (α)20.5, – –MED, – –FIL and – –THAI in the first multiplex PCR, the second multiplex detects the –α3.7 deletion and αααanti3.7 variant, the third multiplex detects the –α4.2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where α-thalassaemias are prevalent.