Rapid analysis of ‐α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis

Abstract

Summary In this report we describe a PCR-based method for the diagnosis of the most common form of α thalassaemia, the –α^3.7 deletion which occurs throughout all tropical and subtropical regions of the world. The same procedure also identifies the reciprocal recombinant chromosome (ααα^{anti 3.7}). Restriction mapping of the PCR products has enabled us to distinguish between the type I (–α^3.7I), type II (–α^3.7II) and type III (–α^3.7III) deletions. This strategy will be very useful in screening programmes of α thalassaemia occurring on its own or in association with β thalassaemia and sickle cell disease.