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

Perkins, Andrew, Xu, Xiangmin, Higgs, Douglas R., Patrinos, George P., Arnaud, Lionel, Bieker, James J., Philipsen, Sjaak and The KLF1 Consensus Workgroup (2016) Kruppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood, 127 15: 1856-1862. doi:10.1182/blood-2016-01-694331


Author Perkins, Andrew
Xu, Xiangmin
Higgs, Douglas R.
Patrinos, George P.
Arnaud, Lionel
Bieker, James J.
Philipsen, Sjaak
The KLF1 Consensus Workgroup
Title Kruppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
Formatted title
Kruppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
Journal name Blood   Check publisher's open access policy
ISSN 0006-4971
1528-0020
Publication date 2016-04-14
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1182/blood-2016-01-694331
Open Access Status Not Open Access
Volume 127
Issue 15
Start page 1856
End page 1862
Total pages 7
Place of publication Washington, DC, United States
Publisher American Society of Hematology
Collection year 2017
Language eng
Formatted 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.
Keyword Transcription factor Klf1
Congenital dyserythropoietic anemia
Terminal erythroid-differentiation
Beta-thalassemia mutations
Increased fetal-hemoglobin
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collections: Mater Research Institute-UQ (MRI-UQ)
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