Rapid detection of the common Mediterranean α-globin deletions/rearrangements using PCR

The most frequent molecular lesions causing α-thalassemia are deletions of one or more α-globin genes. Detection of these deletions generally requires genomic Southern analysis, which is cumbersome and time consuming. We have designed new sets of primers for PCR identification of the common Mediterranean α-globin gene rearrangements, including the -α^3.7 deletion and the ααα(anti3.7) triplication, the -α^4.2 deletion, and the -- (Med) allele. We have established reaction conditions that provide easily interpretable, unambiguous diagnoses. Some of the PCR reactions are multiplex, simultaneously identifying several genotypes, thus reducing the time and cost of screening and prenatal testing. The use of these methods should facilitate carrier screening and identification of couples at risk for α-thalassemia.