Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
Perkins A., Xu X., Higgs DR., Patrinos GP., Arnaud L., Bieker JJ., Philipsen S.
<jats:title>Abstract</jats:title> <jats:p>Until recently our approach to analyzing human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, in thalassemia, the globin loci are analyzed. Sequencing has become increasingly accessible, and thus a larger panel of genes can be analyzed and whole exome and/or whole genome sequencing can be used when no variants are found in the candidate genes. By 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, which were previously considered to be extremely rare causes of human genetic disease.</jats:p>