Rapid analysis of ‐α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis
- 1 January 1993
- journal article
- Published by Wiley in British Journal of Haematology
- Vol. 83 (1) , 105-111
- https://doi.org/10.1111/j.1365-2141.1993.tb04639.x
Abstract
Summary In this report we describe a PCR‐based method for the diagnosis of the most common form of α thalassaemia, the –α3.7 deletion which occurs throughout all tropical and subtropical regions of the world. The same procedure also identifies the reciprocal recombinant chromosome (αααanti 3.7). Restriction mapping of the PCR products has enabled us to distinguish between the type I (–α3.7I), type II (–α3.7II) and type III (–α3.7III) 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.Keywords
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