Involved in oxygen transport from the lung to the various peripheral tissues.; LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.; functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation.

1. beta-globin is selectively deregulated in cancer cells, mediating a cytoprotective effect during blood-borne metastasis. PMID: 28181495
2. Our finding suggested that a de novo nonsense mutation in ANK1 may be causative to HS which plays an important role in supplementing the mutational spectrum of the ANK1 and explaining the mechanism of HS. PMID: 29157167
3. Studies indicate that beta-thalassemia and sickle cell disease (SCD) are both caused by mutations affecting the adult beta-globin gene. PMID: 29127676
4. SNP-based classification of sickle cell anemia HBB haplotypes PMID: 28800727
5. Upon oxygenation, changes in the conformational flexibility across different regions of alpha and beta globin chains in the tetrameric HbS molecule were investigated. It was observed that oxygenation led to perturbation in the conformation of several residues around the hydrophobic patch, groove of a tetramer and axial, lateral contacts across the double strands that are involved in HbS polymerization. PMID: 28465180
6. a novel, positive role for PKR activation and eIF2alpha phosphorylation in human globin mRNA splicing, is reported. PMID: 28374749
7. human bone marrow stromal cells-derived induced pluripotent stem sacs allow for more efficient erythroid cell generation with higher beta-globin production, likely due to heightened emergence of immature progenitors. PMID: 27739611
8. study reports 3 novel HBB mutations - one in the promoter (-90 C>G), a 20 bp deletion in exon 2 (FS Cd 78/85) and a mutation in the donor site of intron 2 (IVS2:2 T>G); considering these novel mutations and the first observation of IVS1:6T>C, the molecular spectrum of beta-thalasemia in Mexicans comprises 21 different mutations, confirming the high allelic heterogeneity in Mexicans PMID: 28603845
9. Embryonic stem cell sacs serve as hemangioblast-like progenitors capable to generate definitive erythroid cells that express beta-globin. PMID: 26866725
10. Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the beta-globin chain PMID: 28385923
11. In conclusion, in this work we demonstrated that HBB is expressed by breast cancer cells, its expression is correlated with tumour aggressiveness in humans and its forced overexpression enhances breast cancer cell aggressiveness in vitro and in vivo. PMID: 28772282
12. NF-E2, TAL1 and KLF1, all activators play a primary role in HSs formation in the LCR PMID: 27026582
13. Five different beta-globin haplotypes were linked to sickle hemoglobin alleles in Mazandaran province. PMID: 28003571
14. 2 cases of Polish patients with hereditary hemolytic anemia suspected of thalassemia were studied; identified 2 different frameshift mutations positioned in the third exon of HBB; results show a lack of natural stop codon due to the frameshift in exon 3 of beta-globin gene causes rapid degradation of its mRNA and indicate existence of novel surveillance pathway PMID: 28595636
15. Our work suggested a novel function for HBB as a theranostic molecule: an innate antimetastasis factor with potential utility as an anticancer drug and a biomarker signaling the presence of clinically undetectable metastasis PMID: 27793844
16. The presence of intravening sequence (IVS)-I-6 was significantly related with the development of extramedullary hematopoiesis in beta-thalassemia major patients. No other demographic or biological factor studied was found to be related with the presence of extramedullary hematopoiesis. PMID: 28399542
17. we concluded that this novel beta-globin gene mutation was associated with the mild phenotype of beta-thal. PMID: 28475449
18. We first report a novel beta chain variant, Hb Heze [beta144(HC1)Lys-->Arg; HBB: c.434A>G], in a Chinese family. Heterozygous inheritance of the mutation results in a mild beta-thalassemia (beta-thal) phenotype, whereas compound heterozygosity of Hb Heze with beta(0)-thal appears as the cause of beta-thal intermedia (beta-TI) in our case. PMID: 28366026
19. Intracranial aneurysms are common in HbSS sickle cell disease. There was also a trend toward more common occurrence of aneurysmal subarachnoid hemorrhage in HbSS; women in the age group 30 to 39 years were most at risk. There was no correlation between the occurrence of intracranial aneurysms and moyamoya syndrome. PMID: 27301940
20. the Fe-His bond of the beta subunits at alkaline pH causes a substantial increase in the change in global structure upon binding of CO to the beta subunit PMID: 28199095
21. We screened for b-thalassemia-causing mutations by direct sequencing in different districts of West Bengal. Mutation detection was done using Sanger sequencing of the HBB gene. Results: A total of 14 different mutations were observed, including rare mutations IVS1-130(G>C), IVS1-129(A>C), -90(T>C), CD16(-C), -30(T>C), CD15(-T), and a novel mutation CD53(C>T). PMID: 27828729
22. A report on the frequency and spectrum of beta globin gene mutations in thalassemia patients in a Pakistani population. PMID: 27263053
23. Possession of a single HbS gene results in the generally harmless sickle cell trait (AS genotype) but inheritance of the HbS gene from both parents results in homozygous sickle cell (SS) disease which is often a severe condition destroying red blood cells rapidly and blocking flow in blood vessels with painful and often serious complications PMID: 26997009
24. The TaqMan single nucleotide polymorphism (SNP) genotyping assays are a rapid, accurate, and cost-effective method for the initial screening of b-thalassemia cases, which will minimize the need for direct sequencing of the HBB gene, thus reducing detection costs and increasing throughput. PMID: 26890443
25. Prevalence of hemoglobin E in Yunnan Province of Southwest China has been described. PMID: 26292035
26. This study reports a Chinese family in whom the codon 35 (A > G) (HBB: c.107A > G) mutation of the beta-globin gene was not associated with the thalassemic phenotype previously described. PMID: 26754300
27. Individuals with the HBB: c.*233G > C variant did not demonstrate any abnormalities in hematological parameters characteristic of beta-thal carrier state (17 heterozygotes) or clinical evidence of disease (homozygote). PMID: 26524961
28. The profile of beta-thal mutations found in northern Brazil is different from those described in other regions of the country. PMID: 26372288
29. Presented is a novel beta-thalassemia (beta-thal) mutation in a Chinese family. This mutation is located at -27 of the TATA box in the promoter of the HBB gene (HBB: c.-77A > G) and is associated with a phenotype of beta(+)-thalassemia (beta(+)-thal). PMID: 26554738
30. These discoveries have suggested novel rational approaches for the beta-hemoglobin disorders including therapeutic genome editing PMID: 26375765
31. The results we obtained did not reveal any correlation between genotype and phenotype among patients with beta-thalassemia. PMID: 25617386
32. results suggest that KLF1 directly regulates the beta-globin gene, but probably has less direct impact on expression of the gamma-globin gene in fetal erythroblasts PMID: 26840243
33. This study supports the hypothesis that Haemoglobin S confers resistance to hyperparasitaemia in patients exhibiting severe malaria syndromes. PMID: 26445879
34. A new beta-globin variant causing beta-thalassemia has been confirmed as a founder effect in a Northern European (French) population. PMID: 25469539
35. first description of Chinese individuals with the beta-thalassemia (beta-thal) mutation IVS-I-6 (T > C) (HBB: c.92 + 6T > C) which interferes with mRNA splicing and results in reducing expression of beta-globin chains that leads to a beta+-thal phenotype PMID: 25856402
36. Sickle cell trait was protective against malaria. The HbAS group had fewer malaria episodes than the HbAA group. PMID: 23925429
37. study of populations from eastern regions of India was undertaken to investigate genetic profile of heterogeneity in thalassemia patients; mutation analysis revealed the presence of 3 novel mutations: CD2 (-A) in the 1st exon, -42 (C-G), and -223 (T-C) in the promoter region of beta-globin gene PMID: 25976460
38. The TG-beta-IVSI-6 mouse reproduces the molecular features of IVSI-6 beta-thalassemia and might be used as an in vivo model to characterize the effects of antisense oligodeoxynucleotides PMID: 26097845
39. This study suggests that there is a significant association between certain polymorphic configurations of the beta globin cluster and the increase of HbF levels in healthy individuals. PMID: 21947948
40. Twelve Hb Hofu heterozygotes and three sickle Hb Hofu compound heterozygotes have been found in eastern India carriers. PMID: 23889802
41. we describe an integrative analytical process to identify specific CRISPR target sites in the human beta-globin gene (HBB) and predict their off-target effects. PMID: 25918715
42. Prevalence of beta-globin mutations associated with beta thalassemia in Chinese populations. PMID: 25849334
43. LIN28A over-expression increased HbF, reduced beta (sickle)-globin, and strongly suppressed all members of the let-7 family of miRNAs while reducing erythrocyte sickling. PMID: 25188417
44. In septic patients, hemoglobin beta blood levels are related to the severity of sepsis. PMID: 25338941
45. Structure of the human Hp-Hb and Trypanosoma brucei brucei HpHbR protein complex is described. PMID: 25410714
46. Hemoglobin S is associated with a 70% reduction of harboring P. falciparum parasitemia at the heterozygous state; there was no equivalent protection with hemoglobin C. PMID: 25712976
47. The previously described self-depurinating hotspot at codon 6 of beta-globin is unique to it, and is not found in other human globin genes. PMID: 26042536
48. The study reports a new beta-globin chain variant: Hb Meylan [beta73(E17)Asp --> Phe; HBB: c.220G>T; c.221A>T]. The new variant results from a double nucleotide mutation at the same codon. The possible molecular mechanisms are discussed. PMID: 25476778
49. This study reports a currently 3 years and 2 months old male patient with a homozygous codons 9/10 (+T) mutation on the beta-globin gene causing a beta-thal phenotype. PMID: 25572182
50. The study reports Hb Feilding [beta12(A9)Thr --> Pro; HBB: c.37A>C]: a novel unstable beta-globin chain variant. PMID: 25572184

顯示更多

收起更多

Heinz body anemias (HEIBAN); Beta-thalassemia (B-THAL); Sickle cell anemia (SKCA); Beta-thalassemia, dominant, inclusion body type (B-THALIB)

Globin family

Red blood cells.

HGNC: 4827

OMIM: 140700

KEGG: hsa:3043

STRING: 9606.ENSP00000333994

UniGene: Hs.523443