Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

Andrew Perkins, Xiangmin Xu, Douglas Higgs, George P. Patrinos, Lionel Arnaud, James J. Bieker, Sjaak Philipsen, KLF1 Consensus Workgroup

Research output: Contribution to journalArticle (Academic Journal)

Abstract

Until recently our approach to the analysis of human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, analysing the globin loci in cases of thalassemia. As sequencing has become increasingly accessible, a larger panel of genes is now analysed and whole exome/genome sequencing is applied in cases where no variants are found in the candidate genes. Using such approaches in patients with unexplained anemias, we have discovered that a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, previously considered to be extremely rare causes of human genetic disease.
Original languageEnglish
Pages (from-to)1856-1862
Number of pages7
JournalBlood
Volume127
Issue number15
Early online date22 Feb 2016
DOIs
Publication statusPublished - 14 Apr 2016

Keywords

  • KLF1
  • red blood cell disorders

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    Perkins, A., Xu, X., Higgs, D., Patrinos, G. P., Arnaud, L., Bieker, J. J., Philipsen, S., & KLF1 Consensus Workgroup (2016). Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood, 127(15), 1856-1862. https://doi.org/10.1182/blood-2016-01-694331