Evidence map›Paper›PMID 41989145›Full record

ArticleBritish journal of haematology2026

A genetic risk score based on BCL11A and HBS1L-MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients.

Gabriela S Arcanjo, Alexsandro P Silva, Madi V Diniz, Igor F Domingos, Diego A Pereira-Martins, Amanda B Araújo, Talita S S França, Ana C Anjos, Aderson S Araujo, Edis Belini-Junior and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in British journal of haematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Gabriela S ArcanjoGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.ORCID https://orcid.org/0000-0002-1736-0227
Alexsandro P SilvaGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.ORCID https://orcid.org/0000-0002-6226-2941
Madi V DinizGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.ORCID https://orcid.org/0000-0002-5599-2989
Igor F DomingosCardiology Emergency Unit of Pernambuco, University of Pernambuco, Recife, Pernambuco, Brazil.ORCID https://orcid.org/0000-0001-5292-5417
Diego A Pereira-MartinsDepartment of Hematology, Cancer Research Centre Groningen, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.ORCID https://orcid.org/0000-0002-3302-4311
Amanda B AraújoGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.ORCID https://orcid.org/0000-0001-6645-9322
Talita S S FrançaGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
Ana C AnjosGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
Aderson S AraujoDepartment of Internal Medicine, Hematology and Hemotherapy Foundation of Pernambuco, Recife, Pernambuco, Brazil.ORCID https://orcid.org/0000-0003-1733-5053
Edis Belini-JuniorMolecular Biology and Genetics Laboratory, Federal University of Mato Grosso do Sul (UFMS), Três Lagoas, MS, Brazil.ORCID https://orcid.org/0000-0001-6478-8173
Sara T O SaadHematology and Hemotherapy Center, State University of Campinas, Campinas, São Paulo, Brazil.ORCID https://orcid.org/0000-0003-0809-8068
Fernando F CostaHematology and Hemotherapy Center, State University of Campinas, Campinas, São Paulo, Brazil.
Antonio R Lucena-AraujoGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.
Marcos André C BezerraGenetics and Molecular Biology Postgraduate Program, Federal University of Pernambuco, Recife, Pernambuco, Brazil.ORCID https://orcid.org/0000-0002-0887-7793

Funding

Conselho Nacional de Desenvolvimento Científico e Tecnológico 405918/2022-4Conselho Nacional de Desenvolvimento Científico e Tecnológico 408710/2021-7Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco APQ-1212-2.02/22
6 · The paper itself

Abstract

Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co-inheritance of genetic variants that regulate globin expression. In this study, we investigated the association of BCL11A rs4671393, rs1427407, rs11886868 and HBS1L-MYB rs9399137 polymorphisms with HbF levels and clinical complications in a cohort of 409 adult Brazilian SCA patients. Our findings reveal that variant alleles of all four single-nucleotide polymorphisms (SNPs) were significantly associated with higher HbF levels. Moreover, homozygosity for the major alleles was independently associated with higher risk and cumulative incidence of stroke, avascular necrosis, leg ulcers, priapism and acute chest syndrome. Haplotype analysis with BCL11A variants was also associated with HbF and the patient's phenotype. A genetic risk score (GRS) combining the risk genotypes was significantly associated with lower HbF levels (p < 0.0001) and increased complication risk (p < 0.0001). A model integrating the GRS with clinical variables demonstrated superior discriminatory performance (area under the curve (AUC): 0.72) compared to models based solely on clinical factors. In summary, this study underscores the clinical relevance of HbF-related genetic variants and supports their integration into risk stratification and personalized management strategies for SCA.

Indexed as

Anemia, Sickle CellCarrier ProteinsNuclear ProteinsPeptide Elongation FactorsPolymorphism, Single NucleotideProto-Oncogene Proteins c-mybAdolescentAdultBrazilFemaleFetal HemoglobinGenetic Predisposition to DiseaseGenetic Risk ScoreGenotypeGTP-Binding ProteinsHaplotypesBCL11A protein, humanCarrier ProteinsFetal HemoglobinGTP-Binding ProteinsHBS1L protein, humanMYB protein, humanNuclear ProteinsPeptide Elongation FactorsProto-Oncogene Proteins c-mybRepressor Proteinsfetal haemoglobinhaplotypesHMIPrs1427407rs9399137sickle cell disease

Identifiers

PMID41989145
PMCPMC13267477

What Socratic holds

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LicenceCC BY
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Registered trials

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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 Socratic graph.