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

Research output: Contribution to journalArticle

  • Andrew Perkins
  • Xiangmin Xu
  • Douglas Higgs
  • George P. Patrinos
  • Lionel Arnaud
  • James J. Bieker
  • Sjaak Philipsen
  • KLF1 Consensus Workgroup
Original languageEnglish
Pages (from-to)1856-1862
Number of pages7
Issue number15
Early online date22 Feb 2016
DateAccepted/In press - 9 Feb 2016
DateE-pub ahead of print - 22 Feb 2016
DatePublished (current) - 14 Apr 2016


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.

    Research areas

  • KLF1, red blood cell disorders


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