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Correction to: Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR

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The original article was published in BMC Hematology 2014 14:4

Correction to: BMC Hematol (2014) 14:4

https://doi.org/10.1186/2052-1839-14-4

The copy number of the HBA1 assay for the -(α)20.5 deletion in the HBA-CNV method described in the original article [1] was incorrectly reported. The authors wish to note that the HBA1 assay will not be affected by the –(α)20.5 deletion and will show two copies (Table 1 - corrected). The 3′ breakpoint of the –(α)20.5 deletion is located within exon 2 of the HBA1 gene [2], leaving intact the area where the HBA1 assay is amplifying. The partial deletion of HBA1 causes a complete abolition of the gene expression, hence –(α)20.5 is considered as a double gene deletion. This shows that even though the HBA1 assay may show two copies, a deletion affecting both alpha-globin genes can not be excluded. Similarly, the Hb Var database contains examples of deletions that will not influence HBA2 assay copy number despite affecting both alpha-globin genes. Hence, molecular data should always be evaluated together with hematological data.

Table 1 Predicted copy number in 108 patient samples

References

  1. 1.

    Runa M, Grimholt RM, Urdal P, Piehler AP. Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR. BMC Hematol. 2014;14:4.

  2. 2.

    Nicholls RD, Higgs DR, Clegg JB, Weatherall DJ. Alpha zero-thalassemia due to recombination between the alpha 1-globin gene and an AluI repeat. Blood. 1985;65(6):1434–8.

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Correspondence to Runa M. Grimholt.

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Grimholt, R.M., Urdal, P., Klingenberg, O. et al. Correction to: Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR. BMC Hematol 19, 13 (2019) doi:10.1186/s12878-019-0144-5

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