ArticleBlood2011
KLF1 gene mutations cause borderline HbA(2).
Article in Blood, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 100 citations in OpenAlex.
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- Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis.Nature communications · 2024Article
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- Unresolved laboratory issues of the heterozygous state of β-thalassemia: a literature review.Haematologica · 2024Review
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- Genetic predictions of life expectancy in southern Thai patients with βBiomedical reports · 2022Article
- Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.Scientific reports · 2022Article
- The Clinical Significance of the Spectrum of Interactions of the Rare IVS-II-5 G>C (Mediterranean journal of hematology and infectious diseases · 2022Article
- Thalassemia and erythroid transcription factorArchives of medical science : AMS · 2022Article
- Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbAArchives of medical science : AMS · 2021Article
- AMolecular and cellular biology · 2020Article
- Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.Orphanet journal of rare diseases · 2020Article
- Delta-Globin Gene Expression Is EnhancedFrontiers in medicine · 2020Article
- A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.Human mutation · 2019Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Increased hemoglobin A(2) (HbA(2); ie, levels > 3.9%) is the most important feature of β-thalassemia carriers. However, it is not uncommon to find persons with borderline HbA(2) (levels, 3.3%-3.8%), who pose a relevant screening problem. Several genotypes have been associated with borderline HbA(2), but sometimes the reasons for this unusual phenotype are unknown. In this paper, we report, for the first time, that mutations of KLF1 result in HbA(2) levels in the borderline range. Six different KLF1 mutations were identified in 52 of 145 subjects with borderline HbA(2) and normal mean corpuscular volume and mean corpuscular hemoglobin. Two mutations (T327S and T280_H283del) are here reported for the first time. The prevalent mutation in Sardinians is S270X, which accounts for 80.8% of the total. The frequent discovery of KLF1 mutations in these atypical carriers may contribute significantly to the thalassemia screening programs aimed at identification of at risk couples.
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