Summary. We describe a sensitive, reliable and reproducible method, based on three multiplex PCR assays, for the rapid detection of seven common a-thalassaemia deletions and one a-globin gene triplication. The new assay detects the a 0 deletions ± ± SEA , ± (a) 20?5 , ± ± MED , ± ± FIL and ± ± THAI in the ®rst multiplex PCR, the second multiplex detects the ±a 3?7 deletion and aaa anti3?7 variant, the third multiplex detects the ±a 4?2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where athalassaemias are prevalent.
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