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

A Perkins, Xiang-Ming Xu, DR Higgs, GP Patrinos, L Arnaud, JJ Bieker, Sjaak Philipsen

Research output: Contribution to journalArticleAcademicpeer-review

118 Citations (Scopus)


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.
Original languageUndefined/Unknown
Pages (from-to)1856-1862
Number of pages7
Issue number15
Publication statusPublished - 2016

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  • EMC MGC-02-13-02

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