HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE We are focusing on the development of complex retroviral vectors containing human beta-globin gene and beta-LCR for the gene therapy of sickle cell disease and beta-thalassemias. 9668537 1998
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE We did not observe any significant associations between HBB haplotype and SCD disease course in this cohort. 25748438 2015
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE To analyze the frequency of the haplotypes of β-globin gene cluster in randomly selected patients with sickle cell disease (SCD), attended in the Children's Hospital of Panama. 21387457 2011
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease UNIPROT How malaria has affected the human genome and what human genetics can teach us about malaria. 16001361 2005
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE <b>Introduction</b>: Sickle cell disease (SCD) is caused by a mutation in the HBB gene which is key for making a component of hemoglobin. 31847604 2020
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE β-thalassemia and sickle cell disease (SCD) are prototypical Mendelian single gene disorders, both caused by mutations affecting the adult β-globin gene. 29127676 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Beta-globin gene haplotypes in the Saudi sickle cell anaemia patients. 1973147 1990
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE The clinical manifestation in sickle cell disease (SCD) patients varies from one individual to another due to factors like the presence of alpha-thalassaemia mutation, foetal haemoglobin, and β-globin gene haplotype. 27077770 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is an autosomal recessive disease in which homozygosity for a single point mutation in the gene encoding the β-globin chain produces hemoglobin S molecules that polymerize within the erythrocyte during deoxygenation; the result is sustained hemolytic anemia and vaso-occlusive events. 29222288 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Each pG gamma F is linked with one of the major haplotypes of the beta-globin gene cluster observed in sickle cell disease (SCD) associated with different mean levels of hemoglobin F (Hb F) expression (P < .001). 7517214 1994
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE While the addition of the wild-type beta-globin gene is naturally suited for treating beta-thalassemia, several alternatives have been proposed for the treatment of sickle cell disease, using either gamma- or mutant beta-globin gene addition, trans-splicing or RNA interference. 18991654 2008
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE The haplotypes of 50 patients diagnosed with SCD were determined using polymerase chain reaction amplification of fragments containing nine polymorphic restriction sites around and within the epsilon-Ggamma-Agamma-psibeta-delta-beta-globin gene complex. 12581188 2003
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE In the Middle Eastern Arab countries, the clinical picture of SCD expresses two distinct forms, the benign and the severe forms, which are related to two distinct β-globin gene haplotypes. 22199098 2011
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Genetic lesions of the β-globin gene result in haemoglobinopathies such as β-thalassemia and sickle cell disease. 30616747 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE The potential and reliability of DNA analysis for the identification of human remains are demonstrated by the study of a recent bone sample, which represented a documented case of sickle cell anemia. beta-globin gene sequences obtained from the specimen revealed homozygosity for the sickle cell mutation, proving the authenticity of the retrieved residual DNA. 10640943 2000
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE The main genetic modifier loci for HbF persistence, HBS1L-MYB, BCL11A and the β-globin gene cluster in adults also act in SCD patients. 30478714 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Mutations of the beta-globin gene (HBB) cause beta-thalassaemia and sickle cell anaemia. 29853423 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 AlteredExpression disease BEFREE Increased levels of fetal hemoglobin (HbF) can ameliorate the clinical course of inherited disorders of beta-globin gene expression, such as beta thalassemia and sickle cell anemia. 9668525 1998
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a blood disease caused by a single nucleotide substitution (T > A) in the beta globin gene on chromosome 11. 27636225 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Assays for 10 frequent mutations in the beta-globin gene causing beta-thalassemia and sickle cell anemia are presented that can be applied, in turn, to population screening or family study and prenatal diagnosis in single cases. 18425480 2008
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE To develop a high throughput DNA based confirmatory assay for SCD and to detect mutations in the HBB gene. 31830127 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Sickle cell anemia (SCA) is a genetic disorder of the β-globin gene. 24163393 2013
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 CausalMutation disease CLINVAR Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. 25023085 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Targeted genome editing technology can correct the sickle cell disease mutation of the β-globin gene in hematopoietic stem cells. 27406980 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE From stratified random samples of Southern Community Cohort Study participants, we sequenced the β- globin gene in 51 individuals reporting SCD and 75 individuals reporting no SCD. 24685557 2014