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 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a group of inherited blood disorders that have in common a mutation in the sixth codon of the β-globin (HBB) gene on chromosome 11. 27022141 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Genetic variants at three quantitative trait loci (QTL) for fetal haemoglobin (HbF), BCL11A, HBS1L-MYB and the β-globin gene cluster, have attracted interest as potential targets of therapeutic strategies for HbF reactivation in sickle cell anaemia (SCA). 29879141 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by a monogenic mutation of the β-globin gene and affects millions of people worldwide. 31015205 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, beta-globin gene haplotype, co-inherited alpha-thalassemia trait and Hb F on steady-state serum bilirubin levels in sickle cell anemia. 16004608 2005
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a recessive genetic disorder caused by a single-nucleotide polymorphism in the β-globin gene (HBB). 27733558 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Because the expression of normally silenced fetal ɣ-type globin genes and resultant production of fetal hemoglobin (HbF) in adult erythroid cells can ameliorate the pathophysiological consequences of both abnormal β-globin chains in sickle cell anemia and deficient β-globin chain production in β-thalassemia, understanding the complex mechanisms of this developmental switch has direct translational clinical relevance. 24880147 2015
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Globally, sickle cell disease (SCD) is one of the commonest severe monogenic disorders, due to the inheritance of two abnormal haemoglobin (beta globin) genes. 30067867 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE To assess alpha+-thalassemia deletion alleles, beta-thalassemia mutations and haplotypes linked to the HBB*S cluster in a sample of 130 unrelated sickle cell anemia (SCA) patients (55% female) from Belém, Pará State, for their possible effects on the patients' survival. 20737602 2011
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE For optimal benefit, reversion of the point mutation in HBB leading to sickle cell disease (SCD) would permit precise homology-directed repair (HDR) while concurrently limiting on-target non-homologous end joining (NHEJ)-based HBB disruption. 31279229 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE It is likely that determinants unrelated to haplotype, linked or unlinked to the beta-globin gene cluster, are the major effectors of differences in the levels of HbF in American patients with sickle cell anemia. 1996558 1991
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE A significant level of correction of the mutation responsible for sickle cell anemia has been achieved in monkey COS-7 cells on a plasmid containing a beta-globin gene fragment. 16943853 2007
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Variability of homozygous sickle cell disease: The role of alpha and beta globin chain variation and other factors. 28689691 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Determination of beta-globin gene cluster haplotypes and prevalence of alpha-thalassemia in sickle cell anemia patients in Venezuela. 10814985 2000
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by a mutation of the β-globin gene (Ingram VM. 30067082 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE β-globin gene cluster haplotypes in a cohort of 221 children with sickle cell anemia or Sβ⁰-thalassemia and their association with clinical and hematological features. 20938172 2010
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is characterized by a single point mutation in the seventh codon of the β-globin gene. 25733580 2015
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. 16567956 2006
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is an autosomal recessive disorder caused by a mutation in β-globin (HBB) gene. 31255831 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Nonisotopic M13 probes for detecting the beta-globin gene: application to diagnosis of sickle cell anemia. 3608154 1987
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. 28094851 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Oxidative stress status, clinical outcome, and β-globin gene cluster haplotypes in pediatric patients with sickle cell disease. 20846340 2010
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease LHGDN DNAase I hypersensitive site 3' to the beta-globin gene cluster contains a TAA insertion specific for beta(S)-Benin haplotype. 11869935 2002
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE The stable introduction of a functional beta-globin gene in haematopoietic stem cells could be a powerful approach to treat beta-thalassaemia and sickle-cell disease. 10894546 2000
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 AlteredExpression disease BEFREE Some patients with sickle cell disease have exceptionally high levels of HbF that are associated with the Senegal and Saudi-Indian haplotype of the HBB-like gene cluster; some patients with different haplotypes can have similarly high HbF. 21490337 2011
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Sickle cell anemia (SCA) and β -thalassemia major are well-recognized beta-globin gene disorders of red blood cells associated to mortality and morbidity included bone morbidities due to ineffective erythropoiesis and bone marrow expansion, which affect every part of the skeleton. 29447888 2018