Literature DB >> 31695920

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

Runa M Grimholt1, Petter Urdal1, Olav Klingenberg2, Armin P Piehler3.   

Abstract

[This corrects the article DOI: 10.1186/2052-1839-14-4.].
© The Author(s). 2019.

Entities:  

Year:  2019        PMID: 31695920      PMCID: PMC6824050          DOI: 10.1186/s12878-019-0144-5

Source DB:  PubMed          Journal:  BMC Hematol        ISSN: 2052-1839


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

GenotypeSamples (n)Copy Number Predicted
HBA1HBA3.7HBA2HS-40
αα/αα632222
 -α3.7/αα222122
 -α4.2/αα22212
 -α3.7/-α3.782022
 --SEA/αα71112
 --FIL/αα11112
 -(α)20.5/αα12112
 --MED/αα11112
 -α3.7/--SEA11012
αα/αααanti3.722322
Total108
Predicted copy number in 108 patient samples
  2 in total

1.  Alpha zero-thalassemia due to recombination between the alpha 1-globin gene and an AluI repeat.

Authors:  R D Nicholls; D R Higgs; J B Clegg; D J Weatherall
Journal:  Blood       Date:  1985-06       Impact factor: 22.113

2.  Rapid and reliable detection of α-globin copy number variations by quantitative real-time PCR.

Authors:  Runa M Grimholt; Petter Urdal; Olav Klingenberg; Armin P Piehler
Journal:  BMC Hematol       Date:  2014-01-24
  2 in total

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