HBB
HGNC:4827 · SaudiVarKB evidence summary derived from retained literature mentions.
38Gene mentions
38Publications
12Linked variants
9Associated phenotypes
Associated phenotypes
Co-mentioned in HBB publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| sickle cell disease | HP:0001878 | 12 | 12 |
| sickle cell anemia | HP:0001878 | 7 | 7 |
| thalassemia | HP:0001878 | 6 | 6 |
| stroke | — | 2 | 2 |
| malaria | — | 2 | 2 |
| asthma | — | 1 | 1 |
| COVID-19 | — | 1 | 1 |
| glucose-6-phosphate dehydrogenase deficiency | — | 1 | 1 |
| SARS | — | 1 | 1 |
Linked variants
Variants normalized to HBB| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.252C>T | c.252C>T | 1 | 1 |
| c.281G>T | c.281G>T | 1 | 1 |
| c.316-183_316-168del | c.316-183_316-168del | 1 | 1 |
| c.315+241T>A | c.315+241T>A | 1 | 1 |
| c.315+376T>C | c.315+376T>C | 1 | 1 |
| c.316-114C>G | c.316-114C>G | 1 | 1 |
| c.315+208T>G | c.315+208T>G | 1 | 1 |
| p.Glu7Val | p.Glu7Val | 1 | 1 |
| c.364G>A | c.364G>A | 1 | 1 |
| p.Glu122Lys | p.Glu122Lys | 1 | 1 |
| c.20A>T | c.20A>T | 1 | 1 |
| c.56delG | c.56delG | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | — | 3 |
| Not specified | — | — | 2 |
| Saudi Arabia | — | — | 1 |
| Saudi Arabia | — | 88 | 1 |
| Not specified | — | 0 | 1 |
| Saudi Arabia · Eastern Province | — | 350 | 1 |
| Not specified | — | 813 | 1 |
| Saudi Arabia | — | 63 | 1 |
| Not specified | — | 27 | 1 |
| Not specified | — | 52 | 1 |
| Saudi Arabia · Eastern Province | — | — | 1 |
| Saudi Arabia · Eastern Province | — | 778 | 1 |
| Saudi Arabia | — | 41 | 1 |
| Saudi Arabia | — | 139 | 1 |
| Saudi Arabia | — | 44 | 1 |
| Saudi Arabia · Eastern Province | — | 104 | 1 |
| Saudi Arabia · Western Province | — | 159 | 1 |
| Saudi Arabia · Tabuk | — | 19 | 1 |
| Not specified | — | 688 | 1 |
Supporting publications
38 records- 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 ↗
- 2026Molecular and Clinical Characterization of the Hb Tübingen [β106(G8) Leu→ Gln, HBB: c.320 T>A] Associated With Congenital Methemoglobinemia in a Chinese Family.Journal of clinical laboratory analysisPubMed ↗
- 2026A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population.Human mutationPubMed ↗
- 2026Precise, specific gene editing via a compact GoCas12m-FokI chimeric nuclease.Nucleic acids researchPubMed ↗
- 2025Unraveling the Complex Genomic Interplay of Sickle Cell Disease Among the Saudi Population: A Case-Control GWAS Analysis.International journal of molecular sciencesPubMed ↗
- 2025Genome editing strategies for targeted correction of β-globin mutation in sickle cell disease: From bench to bedside.Molecular therapy : the journal of the American Society of Gene TherapyPubMed ↗
- 2025Therapeutic promise of CRISPR-Cas9 gene editing in sickle cell disease and β-thalassemia: A current review.Current research in translational medicinePubMed ↗
- 2025Genomics-assisted breeding for designing salinity-smart future crops.Plant biotechnology journalPubMed ↗
- 2025Network analysis of beta gene (HBB) haplotypes related to Hb S (β6 Glu → Val) in Denizli, Turkiye.JPMA. The Journal of the Pakistan Medical AssociationPubMed ↗
- 2024Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.Discovery medicinePubMed ↗
- 2024Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.BMC pregnancy and childbirthPubMed ↗
- 2023Forced enhancer-promoter rewiring to alter gene expression in animal models.Molecular therapy. Nucleic acidsPubMed ↗
- 2023Molecular Detection of Hemoglobin O-Arab in the Sudanese Population.International journal of general medicinePubMed ↗
- 2023Exploring the host factors affecting asymptomatic Plasmodium falciparum infection: insights from a rural Burkina Faso study.Malaria journalPubMed ↗
- 2022Primary HBB gene mutation severity and long-term outcomes in a global cohort of β-thalassaemia.British journal of haematologyPubMed ↗
- 2022The prevalence of sickling abnormality in Oman: A review of relevant publications.Acta bio-medica : Atenei ParmensisPubMed ↗
- 2022Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.Frontiers in geneticsPubMed ↗
- 2020α-Globin Genotypes Associated with Hb H Disease: A Report from Oman and a Review of the Literature from the Eastern Mediterranean Region.HemoglobinPubMed ↗
- 2020Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.Archives of medical science : AMSPubMed ↗
- 2020Prevalence and Diversity of Haplotypes of Sickle Cell Disease in the Eastern Province of Saudi Arabia.HemoglobinPubMed ↗
- 2020CRISPR-mediated gene modification of hematopoietic stem cells with beta-thalassemia IVS-1-110 mutation.Stem cell research & therapyPubMed ↗
- 2019Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in Human β-Globin Gene Suggests Possible Cause of β-Thalassemia.BioMed research internationalPubMed ↗
- 2018KLF1 gene and borderline hemoglobin A2 in Saudi population.Archives of medical science : AMSPubMed ↗
- 2018Hemoglobin A2 (HbA2) has a measure of unreliability in diagnosing β-thalassemia trait (β-TT).Current medical research and opinionPubMed ↗
- 2018A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.Saudi medical journalPubMed ↗
- 2017A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.Stem cell reportsPubMed ↗
- 2017A phased SNP-based classification of sickle cell anemia HBB haplotypes.BMC genomicsPubMed ↗
- 2016Detection of β-Thalassemia Mutations Using TaqMan Single Nucleotide Polymorphism Genotyping Assays.Genetic testing and molecular biomarkersPubMed ↗
- 2016A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.American journal of hematologyPubMed ↗
- 2015Genetic determinants of β-thalassemia intermedia in Pakistan.HemoglobinPubMed ↗
- 2015Clinical and Molecular Characteristics of Non-Transfusion-Dependent Thalassemia in Kuwait.HemoglobinPubMed ↗
- 2014Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab-Indian haplotype is not benign.British journal of haematologyPubMed ↗
- 2013Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.Blood cells, molecules & diseasesPubMed ↗
- 2012Sickle cell disease subphenotypes in patients from Southwestern Province of Saudi Arabia.Journal of pediatric hematology/oncologyPubMed ↗
- 2012Unaltered myocilin expression in the blood of primary open angle glaucoma patients.Molecular visionPubMed ↗
- 2011Down-regulation of OPA1 in patients with primary open angle glaucoma.Molecular visionPubMed ↗
- 2011In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene.PloS onePubMed ↗
- 1999Some atypical and rare sickle cell gene haplotypes in populations of Andhra Pradesh, India.Human biologyPubMed ↗