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HBA2 and thalassemia are reported together in 5 articles.
Gene
HBA2
- HGNC
- HGNC:4824
16articles
16mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Thalassemia
- HPO
- HP:0001878
409articles
409mentions
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
5 records shown · first 60Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.
PMID 32190157 | PMCID PMC7069418 | DOI 10.5114/aoms.2019.84825 · Archives of medical science : AMS · 2020 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBA2 | “MATERIAL AND METHODS: Direct sequence of β-globin HBB gene, and alpha-globin HBA1 and HBA2 genes was performed on a total of 545 blood samples (transfusion-dependent: 215, 106 men and 109 women; normal healthy subjects: 330, 197 men and 133 women) collected from Saudi Arabian participants in the Eastern region.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “The identified β-globin mutations will strengthen the genetic reference that could aid in characterizing mutations that are associated with phenotype of thalassemia in a specific region.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HBB | “INTRODUCTION: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain.” | 0.98 | hgnc_dict_v1 |
| gene | HBA1 | “MATERIAL AND METHODS: Direct sequence of β-globin HBB gene, and alpha-globin HBA1 and HBA2 genes was performed on a total of 545 blood samples (transfusion-dependent: 215, 106 men and 109 women; normal healthy subjects: 330, 197 men and 133 women) collected from Saudi Arabian participants in the Eastern region.” | 0.98 | hgnc_dict_v1 |
Co-inheritance of alpha globin gene deletion lowering serum iron level in female beta thalassemia patients.
PMID 31705350 | DOI 10.1007/s11033-019-05168-w · Molecular biology reports · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBA2 | “Also, HBA1 and HBA2 genes were sequenced by Sanger sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Co-inheritance of alpha globin gene deletion lowering serum iron level in female beta thalassemia patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HBA1 | “Also, HBA1 and HBA2 genes were sequenced by Sanger sequencing.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Eastern Province | “In the Eastern province of Saudi Arabia, thalassemia is highly common. Saudi transfusion dependent female β-thalassemia patients with wild alpha globin genotype (αα/αα) were observed with iron level beyond the normal range. However, normal range of iron was observed in transfusion dependent Saudi female beta thalassemia patients co-inherited with double (-α3.7/-α3.7, or --Fil/αα or --MED/αα or - (α) 20.5/αα) or double heterozygosity (- -/-α3.7) alpha globin gene deletions, which is significantly (p < 0.0001) less compared to the Saudi transfused female with wild alpha globin genotype (αα/αα).” | 0.95 | saudi_context_rules_v1 |
A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.
PMID 29619482 | PMCID PMC5938644 | DOI 10.15537/smj.2018.4.21360 · Saudi medical journal · 2018 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBA2 | “The coinheritance of HBB gene variations with ATRX, HBA1, HBA2, HBA12, AHSP, and KLF1 gene variations were observed to be common in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | HBB | “Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene.” | 0.98 | hgnc_dict_v1 |
| gene | ATRX | “The coinheritance of HBB gene variations with ATRX, HBA1, HBA2, HBA12, AHSP, and KLF1 gene variations were observed to be common in the Saudi population.” | 0.98 | hgnc_dict_v1 |
Molecular nature of alpha-globin genes in the Saudi population.
PMID 26593158 | PMCID PMC4673362 | DOI 10.15537/smj.2015.11.12704 · Saudi medical journal · 2015 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBA2 | “There are 2 common types of α-globin genes; HBA2 and HBA1.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Alpha-thalassemia (α-thal) is a disorder caused by the deletion of single or double α-globin genes, and/or point mutations in the α-globin genes.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | HBA1 | “There are 2 common types of α-globin genes; HBA2 and HBA1.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Hence, it is essential to understand the molecular nature of α-globin genes to treat the most prevalent hemoglobin disorders, such as sickle cell disease, α-thal, and β-thal prevalent in the Kingdom of Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
A novel HBA2 gene conversion in cis or trans: "α12 allele" in a Saudi population.
PMID 25065854 | DOI 10.1016/j.bcmd.2014.07.001 · Blood cells, molecules & diseases · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBA2 | “A novel HBA2 gene conversion in cis or trans: "α12 allele" in a Saudi population.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Thalassemia and sickle cell disease are the most prevalent hemoglobin disorders in the populations of Dammam, Al-Qatif and Al-Ahsa regions in the Eastern Province of Saudi Arabia where our study cases originated.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | HBA1 | “Direct sequencing of the HBA2 and HBA1 genes from 157 Saudi subjects revealed a new HBA2 gene conversion in cis or trans in 5.7% of the total.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Thalassemia and sickle cell disease are the most prevalent hemoglobin disorders in the populations of Dammam, Al-Qatif and Al-Ahsa regions in the Eastern Province of Saudi Arabia where our study cases originated.” | 0.98 | phenotype_alias_lexicon_v2 |