Simultaneous detection of alpha-thalassemia and beta-thalassemia by oligonucleotide microarray

Abstract

In this study, we describe a reliable microarray-based assay for the simultaneous detection of alpha/beta-globin genotypes. The efficiency and specificity of this method were evaluated by blinded analysis of 1,880 samples. The assay provides unambiguous detection of complex combinations of heterozygous, compound heterozygous and homozygous alpha/beta-thalassemia genotypes.