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

Author:

Perkins Andrew1ORCID,Xu Xiangmin2ORCID,Higgs Douglas R.3ORCID,Patrinos George P.4ORCID,Arnaud Lionel5,Bieker James J.6,Philipsen Sjaak7ORCID,

Affiliation:

1. Mater Research Institute, University of Queensland, Woolloongabba, Australia;

2. Southern Medical University and Guangdong Genetic Testing Engineering Research Center, Guangzhou, China;

3. Weatherall Institute of Molecular Medicine, Oxford, United Kingdom;

4. Department of Pharmacy, University of Patras, Patras, Greece;

5. Department of Biology, University of Vermont, Burlington, VT;

6. Mount Sinai School of Medicine, New York, NY; and

7. Department of Cell Biology, Erasmus University Medical Center Rotterdam, Rotterdam, The Netherlands

Abstract

Abstract 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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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