Figure 1

Location of the four CNV assays. Primers and probes were designed to efficiently amplify specific non-homologous regions in the α-globin gene cluster at the telomeric end of chromosome 16 (16p13.3). An assay located in intron 7 of the NRPL3 gene detects CNVs in the HS-40 element, which plays an important role in regulation of the α-globin genes. Black solid lines indicate known large deletions in the α-globin gene cluster, whereas small, blue dots indicate single nucleotide substitutions and small insertions and deletions that give rise to either hemoglobin variants or α-thalassemia.