ArticleHaematologica2011
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
Article in Haematologica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 75 citations in OpenAlex.
- Trial
- Article
- Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.Annals of hematology · 2024Review
- C2H2 Zinc Finger Transcription Factors Associated with Hemoglobinopathies.Journal of molecular biology · 2024Review
- Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.Advances in experimental medicine and biology · 2024Review
- Review
- Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.Scientific reports · 2022Article
- Thalassemia and erythroid transcription factorArchives of medical science : AMS · 2022Article
- Hemoglobin switching in mice carrying theHaematologica · 2021Article
- Compound Heterozygosity forFrontiers in genetics · 2021Article
- The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders.Frontiers in physiology · 2019Review
- Article
- Article
- Article
- Emerging cellular and gene therapies for congenital anemias.American journal of medical genetics. Part C, Seminars in medical genetics · 2016Review
- Review
- Original Research: Stable expression of miR-34a mediates fetal hemoglobin induction in K562 cells.Experimental biology and medicine (Maywood, N.J.) · 2016Article
- Current and future alternative therapies for beta-thalassemia major.Biomedical journal · 2016Review
- Krüppel-Like Transcription Factor KLF1 Is Required for Optimal γ- and β-Globin Expression in Human Fetal Erythroblasts.PloS one · 2016Article
- Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.Nature genetics · 2015Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
The persistence of high fetal hemoglobin level in adults may ameliorate the clinical phenotype of beta-thalassemia and sickle cell anemia. Several genetic variants responsible for hereditary persistence of fetal hemoglobin, linked and not linked to the beta globin gene cluster, have been identified in patients and in normal individuals. Monoallelic loss of KLF1, a gene with a key role in erythropoiesis, has been recently reported to be responsible for persistence of high levels of fetal hemoglobin. In a Sardinian family, high levels of HbF (22.1-30.9%) were present only in compound heterozygotes for the S270X nonsense and K332Q missense mutations, while the isolated S270X nonsense (haploinsufficiency) or K332Q missense mutation were associated with normal HbF levels (<1.5%). Functionally, the K332Q Klf1 mutation impairs binding to the BCl11A gene and activation of the γ- and β-globin promoters. Moreover, we report for the first time the association of KLF1 mutations with very high levels of zinc protoporphyrin.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.