HBB
HGNC:4827 · 38 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HBB | “Molecular and Clinical Characterization of the Hb Tübingen [β106(G8) Leu→ Gln, HBB: c.320 T>A] Associated With Congenital Methemoglobinemia in a Chinese Family.” | 0.98 | hgnc_dict_v1 |
| 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 |
| 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 | HBB | “Our engineered XTEN-fused GoCas12m-FokI editor exhibits robust activity on both surrogate reporters and endogenous human loci, achieving high-efficiency editing at clinically relevant targets-including CLTA1, HBB, AIFM1, and ABL with no detectable off-target activity at in silico-predicted sites, as confirmed by targeted deep sequencing.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “Mutations in the hemoglobin subunit beta (HBB) gene are responsible for causing both BT and SCD.” | 0.98 | hgnc_dict_v1 |
| 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 |
| 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 |
| gene | HBB | “Employing fast-forward breeding tools, namely genomic selection (GS), haplotype-based breeding (HBB), artificial intelligence (AI) and high-throughput phenotyping (HTP), has shown influence not only for fast-tracking genetic gains but also for reducing the time and cost of developing commercial cultivars with enhanced SST and yield stability.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “Network analysis of beta gene (HBB) haplotypes related to Hb S (β6 Glu → Val) in Denizli, Turkiye.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “The most common variants identified were of HBA, HBB, CYP21A2, and G6PD genes.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “RESULTS: The study showed that the genetic variants associated with genes such as Homeostatic Iron Regulator (HFE) (found in 7 patients, representing 44%), complement factor H (CFH) (6 patients, 38%), cadherin 23 (CDH23) (4 patients, 25%), cytotoxic T-lymphocyte associated protein 4 (CTLA-4) (3 patients, 19%), Transforming Growth Factor Beta 1 (TGFB1) (3 patients, 19%), CREB-binding protein (CREBBP) (2 patients, 13%), E1A Binding Protein P300 (EP300) (2 patients, 13%), hemoglobin subunit beta (HBB) (2 patients, 13%), interferon regulatory factor 7 (IRF7) (2 patients, 13%), and unc-119 lipid binding chaperone (UNC119) (2 patients, 13%) might be associated with susceptibility to coronavirus.” | 0.98 | hgnc_dict_v1 |
| 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 |
| 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 |
| gene | HBB | “The haemoglobin genotype was determined by reverse hybridization assays targeting a selection of 21 HBA and 22 HBB mutations.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “Results: Based on our findings, we detected the fetal status with the family corresponding different genes, i.e., LZTR1, DVL2, HBB, RNASEH2B, and MYO7A, as homozygous affected, wild-type, and heterozygous carriers, respectively.” | 0.98 | hgnc_dict_v1 |
| 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 |
| gene | HBB | “Primary HBB gene mutation severity and long-term outcomes in a global cohort of β-thalassaemia.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “BACKGROUND: β-Thalassemias represent a group of genetic disorders caused by human hemoglobin beta (HBB) gene mutations.” | 0.98 | hgnc_dict_v1 |
| 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 |
| 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 | HBB | “Our cohort also included patients with combinations of αPA1 with other Hb variants: αPA1α/αPA1α with Hb S (HBB: c.20A>T) trait (n = 2), -α3.7/αPA1α (n = 2) and αcodon 19α (HBA2: c.56delG)/αPA1α (n = 1).” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “Most of the defects in hemoglobin arise directly from the mutations in the structural β-globin gene (HBB).” | 0.98 | hgnc_dict_v1 |
| 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 | HBB | “Sanger sequencing was used to screen the variation in globin genes (HBB, HBD, HBA1, and HBA2).” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “MATERIAL AND METHODS: To confirm the influence of variations in KLF1, HBA1, HBA2 and HBB genes for the reduction of the level of HbA2 in Saudi β-thalassemia carriers, we performed a direct sequence analysis of KLF1, HBA1, HBA2 and HBB genes from 212 healthy Saudis (88 subjects: HbA2 < 3; 72 subjects: HbA2 = 3.1 to 3.9; 52 subjects HbA2 > 4.3).” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “A phased SNP-based classification of sickle cell anemia HBB haplotypes.” | 0.98 | hgnc_dict_v1 |
| 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 |
| gene | HBB | “Along with elements in cis to the HbF genes, ANTXR1 contributes to the variation in HbF in Saudi AI haplotype sickle cell anemia and is the first gene in trans to HBB that is associated with HbF only in carriers of the Saudi AI haplotype.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “CONCLUSION: The TaqMan single nucleotide polymorphism (SNP) genotyping assays are a rapid, accurate, and cost-effective method for the initial screening of β-thalassemia cases, which will minimize the need for direct sequencing of the HBB gene, thus reducing detection costs and increasing throughput.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “There were 41 patients, made up of 20 with β-thalassemia intermedia (β-TI), 18 with Hb H (β4) disease and three with Hb E (HBB: c.79G > A)-β-thalassemia (Hb E-β-thal); their ages ranged from 3 to 36 years (mean 12.5 ± 7.7).” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “The codon 30 (G > A) and IVS-II-1 (T > C) mutations were found only in the Punjabi ethnic group, while the codon 30 (G > C) and Hb S (HBB: c.20A > T) mutations were found only in the Pashtoon and Sindhi ethnic groups, respectively.” | 0.98 | hgnc_dict_v1 |
| 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 |
| gene | HBB | “Sickle cell anemia is common in the Middle East and India where the HbS gene is sometimes associated with the Arab-Indian (AI) β-globin gene (HBB) cluster haplotype.” | 0.98 | hgnc_dict_v1 |
| 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 |
| gene | HBB | “RNA was extracted from leukocytes of patients and controls and converted to cDNA by reverse transcriptase enzyme, and quantitative PCR was used to assess expression levels of MYOC and the house keeping gene β-globulin (HBB).” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “Several hemoglobinopathies result from homozygosity or compound heterozygosity to beta-globin (HBB) gene mutations, such as that producing sickle cell hemoglobin (HbS), HbC, HbD and HbE.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “RNA was extracted from leukocytes and converted to cDNA by reverse transcriptase enzyme, and real time PCR was used to assess expression levels of OPA1 and the β-globulin (HBB) housekeeping gene.” | 0.98 | hgnc_dict_v1 |
| gene | HBB | “Of 72 sickle cell chromosomes (HBB*S) 60 belong to characteristic Arab-Indian haplotypes, 6 to variant Arab-Indian haplotypes, 1 to a Bantu haplotype, 2 to a Cameroon haplotype, and 3 to rare haplotypes.” | 0.98 | hgnc_dict_v1 |