HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Beta thalassemia intermedia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia. 30777047 2019
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia. 26418075 2016
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GermlineCausalMutation disease ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666 2011
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion. 16732578 2008
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia. 17516066 2007
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE In recent studies, human immunodeficiency virus-based lentiviral (LV) vectors were shown to stably transmit the human beta-globin gene and a large LCR element, resulting in correction of beta-thalassemia intermedia in mice. 16304358 2005
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE We report here that long-term synthesis of chimeric hemoglobin (mualpha(2):hubeta(A)(2)) could be achieved in mice with beta-thalassemia intermedia following engraftment with bone marrow cells transduced with a lentiviral vector encoding the human beta-globin gene. 11877258 2002
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 Biomarker disease BEFREE This compound heterozygous condition of a beta39 C-to-T mutation and triplicate alpha-globin gene increases alpha:beta-globin chain imbalance and accounts for the presence of beta-thalassemia intermedia. 10334122 1999
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE A thymidine deletion at position +10 of the 5' untranslated region of the beta-globin gene was detected in a beta-thalassaemia intermedia patient carrying a beta(0)39 stop codon mutation on the other chromosome; this new mutation, +10(-T), was detected by automated fluorescent DNA sequencing and verified by dot-blot allele-specific hybridizations. 7803275 1994
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE We have analyzed the hemoglobins of a young German patient with beta-thalassemia intermedia and of his immediate family and included in these studies an evaluation of possible nucleotide changes in the beta-globin genes through sequencing of amplified DNA. 1463768 1992
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China. 3207629 1988
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease BEFREE We have isolated and characterized a beta-globin gene from a Black patient with beta-thalassemia intermedia which has an A-G transition at the usual intervening sequence 2 (IVS2) acceptor splice site. 2987809 1985
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 GeneticVariation disease CLINVAR
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia 		0.500 CausalMutation disease CLINVAR