Skip to content

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
JournalBlood
Volume127
Issue number15
Early online date22 Feb 2016
DOIs
DateAccepted/In press - 9 Feb 2016
DateE-pub ahead of print - 22 Feb 2016
DatePublished (current) - 14 Apr 2016

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.

    Research areas

  • KLF1, red blood cell disorders

Documents

View research connections

Related faculties, schools or groups