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We describe a sensitive, reliable and reproducible method, based on three multiplex PCR assays, for the rapid detection of seven common alpha-thalassaemia deletions and one alpha-globin gene triplication. The new assay detects the alpha0 deletions - -SEA, - (alpha)20.5, - -MED, - -FIL and - -THAI in the first multiplex PCR, the second multiplex detects the -alpha3.7 deletion and alphaalphaalphaanti3.7 variant, the third multiplex detects the -alpha4.2 deletion. This simple multiplex method should greatly facilitate the genetic screening and molecular diagnosis of these determinants in populations where alpha-thalassaemias are prevalent.

Type

Journal article

Journal

Br J Haematol

Publication Date

02/2000

Volume

108

Pages

295 - 299

Keywords

Gene Deletion, Gene Duplication, Globins, Humans, Polymerase Chain Reaction, Sensitivity and Specificity, alpha-Thalassemia