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Gene profile

BCL11A

HGNC:13221 · SaudiVarKB evidence summary derived from retained literature mentions.

23Gene mentions
23Publications
6Linked variants
6Associated phenotypes

Associated phenotypes

Co-mentioned in BCL11A publications
PhenotypeIdentifierArticlesMentions
sickle cell diseaseHP:00018781212
sickle cell anemiaHP:000187866
thalassemiaHP:000187833
stroke22
leukemia11
lymphoma11

Linked variants

Variants normalized to BCL11A
VariantHGVS / rsIDArticlesMentions
rs4671393rs467139322
rs1427407rs142740722
rs9399137rs939913722
c.20A>Tc.20A>T11
rs11886868rs1188686811
rs28384513rs2838451311

Population context

Reported in the same publications

Supporting publications

23 records
  1. 2026CRISPR/Cas9 System as a Promising Therapy in Thalassemia and Sickle Cell Disease: A Systematic Review of Clinical Trials.Molecular biotechnologyPubMed ↗
  2. 2026miRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies.International journal of molecular sciencesPubMed ↗
  3. 2026Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.Journal of clinical medicinePubMed ↗
  4. 2026A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutationPubMed ↗
  5. 2025BCL11A +58/+55 enhancer-editing facilitates HSPC engraftment and HbF induction in rhesus macaques conditioned with a CD45 antibody-drug conjugate.Cell stem cellPubMed ↗
  6. 2025Exploratory Review and In Silico Insights into circRNA and RNA-Binding Protein Roles in γ-Globin to β-Globin Switching.CellsPubMed ↗
  7. 2025Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review.Current research in translational medicinePubMed ↗
  8. 2025Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.The Indian journal of medical researchPubMed ↗
  9. 2024Targeting BCL11A through gene therapy in sickle cell disease: Will one size fit all or most?Pediatric blood & cancerPubMed ↗
  10. 2024Ex vivo culture resting time impacts transplantation outcomes of genome-edited human hematopoietic stem and progenitor cells in xenograft mouse models.CytotherapyPubMed ↗
  11. 2024Associations between BCL11A and HBS1L-MYB polymorphisms and thalassemia risk.Journal of Taibah University Medical SciencesPubMed ↗
  12. 2023Bioinformatics and genetic variants analysis of FGF10 gene promoter with their association at carcass quality and body measurement traits in Qinchuan beef cattle.Animal biotechnologyPubMed ↗
  13. 2023Pre-existing immunity does not impair the engraftment of CRISPR-Cas9-edited cells in rhesus macaques conditioned with busulfan or radiation.Molecular therapy. Methods & clinical developmentPubMed ↗
  14. 2021The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.Medical principles and practice : international journal of the Kuwait University, Health Science CentrePubMed ↗
  15. 2021Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers.Archives of medical science : AMSPubMed ↗
  16. 2021CRISPR-Cas9 to induce fetal hemoglobin for the treatment of sickle cell disease.Molecular therapy. Methods & clinical developmentPubMed ↗
  17. 2020Detection of BCL11A and HBS1L-MYB Genotypes in Sickle Cell Anemia.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood TransfusionPubMed ↗
  18. 2019BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.Korean journal of family medicinePubMed ↗
  19. 2019The rs61742690 (S783N) single nucleotide polymorphism is a suitable target for disrupting BCL11A-mediated foetal-to-adult globin switching.PloS onePubMed ↗
  20. 2017Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.BioMed research internationalPubMed ↗
  21. 2016A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.American journal of hematologyPubMed ↗
  22. 2015BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia.Blood cells, molecules & diseasesPubMed ↗
  23. 2013Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.Blood cells, molecules & diseasesPubMed ↗