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: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease BEFREE Any alterations in the proximal CACCC and TATA boxes lead to a moderate decrease in synthesis of the β-globin chain, which has been demonstrated in cases of thalassaemia intermedia that have presented in the second decade of life with a moderate clinical course. 28385923 2017
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease BEFREE The authors describe a Chinese child of β-thalassemia heterozygote with the mutation IVS2-654 (C→T) (HBB:c.316-197C→T) presenting with severe thalassemia intermedia. 26086873 2015
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease CTD_human Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice. 23975182 2014
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE Most arise from heterozygous β-globin gene mutations in exons 3 or 2 and present in adulthood as thalassemia intermedia. 23776097 2013
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE To characterize different common mechanisms involving in pathogenesis of moderate to severe β-thalassemia intermedia, we have studied four factors in 38 Iranian patients with thalassemia intermedia: β-globin gene mutation, deletion in α-globin genes, presence of XmnI polymprphism and RFLP haplotype at β-globin gene cluster. 21120615 2011
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE Codon 104(-G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited beta0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. 17768122 2007
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE We report here a new frameshift mutation in exon 3 of the beta-globin gene, a single nucleotide deletion (-C) in between codons 140/141 (GCC/CTG-->GCC/TG), found in an 8-year-old Argentinean girl with clinical picture of thalassemia intermedia. 16628732 2006
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease CTD_human mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. 16755567 2006
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. 15566365 2004
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia. 1571556 1992
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE This report describes a patient with thalassemia intermedia-like phenotype born to normal parents in whom globin gene sequencing detected a novel abnormal hemoglobin (Hb) due to a T to A substitution at codon 60 of the beta-globin gene arising as a de novo mutation. 1985702 1991
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE The beta+ IVS-I nt 6 of the beta-globin gene and the C----T substitution at position -158 5' of the G gamma-globin gene were detected more frequently in patients with thalassemia intermedia or late-presenting thalassemia major considered together as compared to those affected by typical transfusion-dependent thalassemia major. 1725229 1991
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE In this study we have carried out alpha- and beta-globin gene analysis and defined the beta-globin gene polymorphisms in a group of patients with thalassemia intermedia of Sardinian descent. 2473806 1989
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE Association of thalassaemia intermedia with a beta-globin gene haplotype. 2436649 1987
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease CTD_human "The same ""TATA"" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation." 3021607 1986
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 GeneticVariation disease BEFREE Restriction endonuclease analysis has been performed on the alpha and beta globin gene clusters of 57 Cypriots homozygous for beta thalassaemia, 30 with the transfusion dependent form of the condition (thalassaemia major) and 27 who are less severely affected (thalassaemia intermedia). 6297530 1983
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease CTD_human Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 6280057 1982
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease CTD_human A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia. 6270663 1981
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease BEFREE The 3 subjects with thalassemia intermedia are synthesizing the beta-globin chain in a proportion higher than that expected from the level of Hb A in peripheral blood. 6156119 1980
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia
0.400 Biomarker disease CTD_human beta 0 thalassemia, a nonsense mutation in man. 88735 1979