ArticlePloS one2018
A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia.
Article in PloS one, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Advancing genomic medicine in Nigeria: research progress, clinical translation and policy priorities.Journal of community genetics · 2026Review
- Global genetic modifiers of fetal hemoglobin in sickle cell disease: Systematic review and meta-analysis.iScience · 2026Article
- BCL11A and HBS1L-MYB polymorphisms, in association with hydroxyurea and sex, modulate fetal hemoglobin levels in individuals with sickle cell anemia in the western region of Bahia, Brazil.Molecular biology reports · 2026Article
- A genetic risk score based on BCL11A and HBS1L-MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients.British journal of haematology · 2026Article
- Clinical manifestations of sickle cell disease in Africa and its association with foetal haemoglobin parameters.Communications medicine · 2025Article
- Genetic Modifiers of Stroke in Patients with Sickle Cell Disease-A Scoping Review.International journal of molecular sciences · 2024Article
- The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria.Human molecular genetics · 2024Article
- Detection of Transversions and Transitions in HBG2 Cis-Elements Associated with Sickle Cell Allele in Ghanaians.Biochemical genetics · 2024Article
- Single Nucleotide Polymorphisms inDiagnostics (Basel, Switzerland) · 2022Review
- The Effect of Alpha Thalassemia, HbF and HbC on Haematological Parameters of Sickle Cell Disease Patients in Ibadan, Nigeria.Mediterranean journal of hematology and infectious diseases · 2022Article
- Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.Scientific reports · 2021Article
- Fetal-haemoglobin enhancing genotype atEJHaem · 2021Article
- Unique Polymorphisms atJournal of personalized medicine · 2021Article
- Genotypic Diversity among Angolan Children with Sickle Cell Anemia.International journal of environmental research and public health · 2021Article
- Sickle cell disease clinical phenotypes in Nigeria: A preliminary analysis of the Sickle Pan Africa Research Consortium Nigeria database.Blood cells, molecules & diseases · 2020Article
- Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity.Orphanet journal of rare diseases · 2020Article
- Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease.Molecular diagnosis & therapy · 2019Review
- Association of HMIP1 C-893A polymorphism and disease severity in patients with sickle cell anemia.Hematology, transfusion and cell therapyArticle
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic variants at three quantitative trait loci (QTL) for fetal haemoglobin (HbF), BCL11A, HBS1L-MYB and the β-globin gene cluster, have attracted interest as potential targets of therapeutic strategies for HbF reactivation in sickle cell anaemia (SCA). We carried out the first systematic evaluation of critical single nucleotide polymorphisms at these disease modifier loci in Nigerian patients with SCA. Common variants for BCL11A and HBS1L-MYB were strongly associated with HbF levels. At both loci, secondary association signals were detected, illustrating the mapping resolution attainable in this population. For BCL11A, the two independent sites of association were represented by rs1427407 (primary site, p = 7.0 x 10(-10)) and rs6545816 (secondary site, conditioned on rs1427407: p = 0.02) and for HBS1L-MYB by rs9402686 (HMIP-2B, p = 1.23 x 10(-4)) and rs66650371 (HMIP-2A, p = 0.002). Haplotype analysis revealed similarities in the genetic architecture of BCL11A and HBS1L-MYB in Nigerian patients. Variants at both loci also alleviated anaemia. The variant allele for the γ globin gene promoter polymorphism XmnI-HBG2 was too infrequent in our patients to be evaluated in this relatively small study. Studying the large and diverse SCA patient populations in African countries such as Nigeria will be key for a clearer understanding of how these loci work and for the discovery of new disease modifier genes.
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