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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 publication

DOI

10.1182/blood-2016-01-694331

Type

Journal article

Journal

Blood

Publication Date

14/04/2016

Volume

127

Pages

1856 - 1862

Keywords

Anemia, Hemolytic, Animals, Blood Group Antigens, Erythrocytes, Erythropoiesis, Exome, Gene Deletion, Gene Expression Regulation, Genetic Variation, Heme, Hemoglobinopathies, Humans, Hydrops Fetalis, Iron, Kruppel-Like Transcription Factors, Mice, Phenotype, Protein Structure, Tertiary, Pyruvate Kinase, Sequence Analysis, DNA, beta-Globins