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HBB and sickle cell disease are reported together in 12 articles.
Gene
HBB
- HGNC
- HGNC:4827
38articles
38mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Sickle cell disease
- HPO
- HP:0001878
- OMIM
- 603903
828articles
828mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
12 records shown · first 60A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.
PMID 41929524 | PMCID PMC13042357 | DOI 10.1155/humu/2418005 · Human mutation · 2026 · 16 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “RESULTS: The β-globin (HBB) gene showed the greatest mutational diversity, with over 60 β-thalassemia variants identified.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “In sickle cell disease, the HbS mutation (c.20A>T) is the most common, primarily linked to the Arab-Indian haplotype, whereas polymorphisms in BCL11A, HBS1L-MYB, and ANTXR1 influenced fetal hemoglobin levels.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HBA1 | “The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating.” | 0.98 | hgnc_dict_v1 |
| gene | HBA2 | “The α-globin genes (HBA1, HBA2, and the unique HBA12) were frequently involved in α-thalassemia, with the -α3.7 deletion predominating.” | 0.98 | hgnc_dict_v1 |
Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.
PMID 41753033 | PMCID PMC12941110 | DOI 10.3390/jcm15041345 · Journal of clinical medicine · 2026 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “The first major group comprises cis-acting variants within globin gene clusters (HBG2 promoter XmnI polymorphism, HBB promoter mutations and α-globin enhancer variants), while the second major group comprises trans-acting quantitative trait loci (QTLs) (BCL11A and HBS1L-MYB loci).” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HBG2 | “The first major group comprises cis-acting variants within globin gene clusters (HBG2 promoter XmnI polymorphism, HBB promoter mutations and α-globin enhancer variants), while the second major group comprises trans-acting quantitative trait loci (QTLs) (BCL11A and HBS1L-MYB loci).” | 0.98 | hgnc_dict_v1 |
| gene | BCL11A | “The first major group comprises cis-acting variants within globin gene clusters (HBG2 promoter XmnI polymorphism, HBB promoter mutations and α-globin enhancer variants), while the second major group comprises trans-acting quantitative trait loci (QTLs) (BCL11A and HBS1L-MYB loci).” | 0.98 | hgnc_dict_v1 |
Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.
PMID 40141459 | PMCID PMC11942740 | DOI 10.3390/ijms26062817 · International journal of molecular sciences · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “A substantial proportion of the markers were detected in the olfactory receptor cluster, TRIM family, and HBB locus genes.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Eastern Province | “Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis. SCD prevalence is notably high in regions including the Middle East, with Saudi Arabia reporting significant cases, particularly in the Eastern Province. This study aims to identify genetic variants that characterize Saudi SCD patients with the potential to influence disease outcomes in this population. A multicenter case-control genome-wide association study (GWAS) was conducted involving 350 adult Saudi SCD patients and 202 healthy controls. The GWAS identified numerous significant genetic variants characterizing SCD cases in the Saudi population. The identified variants suggest potential molecular biomarkers and therapeutic targets, enhancing our understanding of the molecular basis of SCD in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review.
PMID 40252393 | DOI 10.1016/j.retram.2025.103513 · Current research in translational medicine · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “Mutations in the hemoglobin subunit beta (HBB) gene are responsible for causing both BT and SCD.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BCL11A | “Moreover, CC9-mediated gene editing was found to be effective in reactivating the expression of hemoglobin F (HbF) and regulating LRF and BCL11A.” | 0.98 | hgnc_dict_v1 |
Genome editing strategies for targeted correction of β-globin mutation in sickle cell disease: From bench to bedside.
PMID 40165374 | PMCID PMC12126784 | DOI 10.1016/j.ymthe.2025.03.047 · Molecular therapy : the journal of the American Society of Gene Therapy · 2025 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “To address this, gene-editing technologies, including zinc-finger nucleases, TALENs, CRISPR-Cas, base editing, and prime editing, have been explored both ex vivo and in vivo for targeted correction of the β-globin gene (HBB) in SCD.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Genome editing strategies for targeted correction of β-globin mutation in sickle cell disease: From bench to bedside.” | 0.98 | phenotype_alias_lexicon_v2 |
Molecular Detection of Hemoglobin O-Arab in the Sudanese Population.
PMID 37554704 | PMCID PMC10406112 | DOI 10.2147/IJGM.S421140 · International journal of general medicine · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “RESULTS: The final study's main results revealed the presence of HB O-Arab genetic mutations among Sudanese Sickle cell disease patients, which estimated to be (5%) co-inherited mutations among our study population (Hb-O Arab; (HBB):c.364G>A (p.Glu122Lys)).” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “BACKGROUND AND PURPOSE: Sickle cell disease (SCD) is an inherited hemoglobin disease affecting the red cells and causing hemolytic anemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | sickle cell anemia | “Sickle cell anemia (SCA) is when the patient has beta-globin gene variant (Hb S variant).” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.364G>A | “RESULTS: The final study's main results revealed the presence of HB O-Arab genetic mutations among Sudanese Sickle cell disease patients, which estimated to be (5%) co-inherited mutations among our study population (Hb-O Arab; (HBB):c.364G>A (p.Glu122Lys)).” | 0.95 | hgvs_regex_v1 |
Forced enhancer-promoter rewiring to alter gene expression in animal models.
PMID 36852088 | PMCID PMC9958407 | DOI 10.1016/j.omtn.2023.01.016 · Molecular therapy. Nucleic acids · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “The enhancer at the β-globin locus (locus control region [LCR]) contacts the fetal-type (HBG) and adult-type (HBB) β-globin genes during corresponding developmental stages.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Activation of HBG expression in erythroid cells is of benefit to patients with sickle cell disease.” | 0.98 | phenotype_alias_lexicon_v2 |
The prevalence of sickling abnormality in Oman: A review of relevant publications.
PMID 36043956 | PMCID PMC9534257 | DOI 10.23750/abm.v93i4.13336 · Acta bio-medica : Atenei Parmensis · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | malaria | “Sickle cell disease (SCD), caused by a mutation in the β-globin gene HBB, is widely distributed in malaria endemic regions.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | sickle cell anemia | “This paper summarizes and reviews βs gene haplotypes in patients with sickle cell anemia (SCA) in Oman. (www.actabiomedica.it).” | 0.98 | phenotype_alias_lexicon_v2 |
Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.
PMID 32448003 | DOI 10.1080/03630269.2020.1739068 · Hemoglobin · 2020 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “The distribution of haplotypes for 746 Hb S (HBB: c.20A > T) homozygotes was: 614 AI/AI, nine SEN/SEN (Senegal), 42 SEN/AI, nine CAM/CAM (Cameroon), one CAR (Central African Republic)/BEN (Benin), 71 AI/atypical.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Eastern Province | “Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia. In the Eastern Province of Saudi Arabia, the Arab-Indian (AI) is most common. In 778 patients with sickle cell disease from the Eastern Province, a haplotype was assigned to 90.9% of all samples; 9.1% were classified as compound heterozygotes for the AI and an atypical haplotype. The presence of the SEN and CAM haplotypes was unexpected due to the apparent homogeneity of the population of the Eastern Province.” | 0.95 | saudi_context_rules_v1 |
| variant | rs3834466 | “Single nucleotide polymorphism (SNP) genotyping (rs3834466, rs28440105, rs10128556, and rs968857) was carried out by nuclease allelic discrimination assay with target-specific forward and reverse primers, TaqMan probes, labeled with VIC and FAM.” | 0.90 | hgvs_regex_v1 |
A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.
PMID 28111279 | PMCID PMC5390092 | DOI 10.1016/j.stemcr.2016.12.017 · Stem cell reports · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “As part of a large NIH-funded NextGen Consortium, we generated a diverse, comprehensive, and fully characterized library of sickle-cell-disease-specific induced pluripotent stem cells (iPSCs) from patients of different ethnicities, β-globin gene (HBB) haplotypes, and fetal hemoglobin (HbF) levels. iPSCs stand to revolutionize the way we study human development, model disease, and perhaps eventually, treat patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Here, we describe this unique resource for the study of sickle cell disease, including novel haplotype-specific polymorphisms that affect disease severity, as well as for the development of patient-specific therapeutics for this phenotypically diverse disorder.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | sickle cell anemia | “Sickle cell anemia affects millions of people worldwide and is an emerging global health burden.” | 0.98 | phenotype_alias_lexicon_v2 |
Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab-Indian haplotype is not benign.
PMID 24224700 | PMCID PMC4094128 | DOI 10.1111/bjh.12650 · British journal of haematology · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “Sickle cell disease (SCD) in Saudi patients from the Eastern Province is associated with the Arab-Indian (AI) HBB (β-globin gene) haplotype.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab-Indian haplotype is not benign.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | stroke | “Ninety-six per cent of these patients reported history of painful crisis; 47% had at least one episode of acute chest syndrome, however, only 15% had two or more episodes; symptomatic osteonecrosis was reported in 18%; priapism in 17%; overt stroke in 6%; none had leg ulcers.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “Half of the patients co-inherited α-thalassaemia and about one-third had glucose-6-phosphate dehydrogenase deficiency.” | 0.98 | phenotype_alias_lexicon_v2 |
Sickle cell disease subphenotypes in patients from Southwestern Province of Saudi Arabia.
PMID 22322941 | DOI 10.1097/MPH.0b013e3182422844 · Journal of pediatric hematology/oncology · 2012 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “We studied 159 patients with SCD to better characterize its phenotype in the SW Province, where patients usually have a HBB haplotype of African origin.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Sickle cell disease subphenotypes in patients from Southwestern Province of Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | G6PD | “Blood tests were obtained during steady state and included: complete blood count, reticulocytes, hemoglobin electrophoresis, lactate dehydrogenase, and G6PD level.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Frequency of various SCD complications was as follows: painful episodes of variable severity occurred in majority of patients (98%), osteonecrosis (14%), acute chest syndrome (22%), splenic sequestration (23%), gallstones (34%), stroke (7.5%), priapism (2.6%), serious infections (11.5%), and persistent splenomegaly (11%) beyond 5 years of age.” | 0.98 | phenotype_alias_lexicon_v2 |