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HBG2 and sickle cell disease are reported together in 4 articles.
Gene
HBG2
- HGNC
- HGNC:4832
5articles
5mentions
1variants 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
4 records shown · first 60Systematic 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 | 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 |
| 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 | 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 |
| 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 |
The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.
PMID 32892201 | PMCID PMC8280415 | DOI 10.1159/000511342 · Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2021 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBG2 | “This haplotype carries the Xmn1 (C/T) SNP, rs7482144, in the HBG2 locus.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BCL11A | “The major identified trans-acting QTL contain SNPs residing in the BCL11A on chromosome 2 and the HMIP locus on chromosome 6.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Pain episodes and avascular necrosis of the femoral head are particularly common, but severe bacterial infections, stroke, priapism, and leg ulcers are uncommon.” | 0.98 | phenotype_alias_lexicon_v2 |
Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.
PMID 28280727 | PMCID PMC5322420 | DOI 10.1155/2017/1972429 · BioMed research international · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBG2 | “In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Background and Objectives. β-Thalassemia and sickle cell disease are genetic disorders characterized by reduced and abnormal β-globin chain production, respectively.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | BCL11A | “In sickle cell disease patients, the HbF level elevation is associated with three quantitative trait loci (QTLs), BCL11A, HBG2 promoter, and HBS1L-MYB intergenic region.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Eastern Province | “Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients. This study elucidates the existence of the variants in these three QTLs to determine their association with HbF levels of transfusion-dependent Saudi β-thalassemia patients. A total of 174 transfusion-dependent β-thalassemia patients and 164 healthy controls from Eastern Province of Saudi Arabia were genotyped for fourteen single nucleotide polymorphisms (SNPs) from the three QTL regions using TaqMan assay on real-time PCR.” | 0.95 | saudi_context_rules_v1 |
The Sickle β-Thalassemia Phenotype.
PMID 28060121 | DOI 10.1097/MPH.0000000000000747 · Journal of pediatric hematology/oncology · 2017 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBG2 | “The Sβ-thal patients were also screened for the HBG2 Xmn-1 polymorphism. β-Thal mutations were determined by arrayed primer extension or direct sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Sβ-thalassemia (Sβ-thal) is common among Gulf Arab patients with sickle cell disease, but the phenotype of this group had not been well-documented.” | 0.98 | phenotype_alias_lexicon_v2 |