HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 AlteredExpression disease BEFREE Gene therapy for the beta thalassemias and sickle cell anemia will require high levels of expression of human beta globin genes. 2441779 1987
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Feasibility of prenatal diagnosis of beta-thalassemia using two highly polymorphic microsatellites 5' to the beta-globin gene. 1427447 1992
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE The cloned beta-globin gene of an Indian patient with beta-thalassemia revealed a 25-nucleotide deletion at the 3'-end of the first intervening sequence, including the acceptor RNA splicing site. 6190800 1983
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 Biomarker disease BEFREE We discuss the possibility that the genetic lesions in beta+-thalassemia are at splicing signal sites within intervening sequences of the beta-globin gene. 6933479 1980
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE To make possible prenatal diagnosis of beta-thalassemia in China and Southeast Asia by direct detection of mutant beta-globin genes, we have determined the spectrum of mutations producing the disorder in this region of the world. 2875755 1986
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Within the third group, conclusive evidence for a mutation within the beta-globin gene cluster producing the silent beta-thalassemia phenotype has been obtained solely for a C----T substitution at -101 within the CACCC box of the beta-globin gene. 2291578 1990
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE beta-globin gene haplotypes were determined for 196 normal (beta-A) and 419 thalassaemia (beta-Th) chromosomes of individuals from four different regions of the Indian subcontinent; North-west Pakistan, Gujarat, Punjab and Sindh. 1362388 1992
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing. 2439149 1987
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. 3033668 1987
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes. 3417300 1988
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Our results suggest that: (1) the association of specific haplotypes with specific mutations is high, but not invariant; (2) a different beta-thalassaemia mutation has arisen within each haplotype in Mediterraneans; and (3) mutation spread from one haplotype to another occurs mainly through meiotic recombination within a 9-kilobase region 5' to the beta-globin gene. 6738712 1984
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Meiotic recombination in the beta globin gene cluster causing an error in prenatal diagnosis of beta thalassaemia. 2898535 1988
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. 2915972 1989
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE The 4-bp deletion (-CTTT) at codon 41/42 (CD41/42) of the human beta-globin gene represents one of the most common beta-thalassemia mutations in East Asia and Southeast Asia, which is historically afflicted with endemic malaria, thus hypothetically evolving under natural selection by malaria infection. 18414926 2008
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE The prevalence of a new polymorphism for the restriction enzyme Ava II in the psi beta-gene of the beta-globin gene cluster was determined in Mediterranean families with at least one beta-thalassaemia homozygote. 6150322 1984
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 Biomarker disease BEFREE It was concluded that the MeltPro HBB assay is useful for reliable genotyping of multiple β-thalassemia mutations in clinical settings and may have potential as a versatile method for rapid genotyping of known mutations because of its high throughput, accuracy, ease of use, and low cost. 21704277 2011
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE DNA sequence analysis of a cloned beta-globin gene from a Chinese patient with beta-thalassemia revealed a single nucleotide substitution (A leads to G) within the ATA box homology and 28 base pairs upstream from the cap site. 6308558 1983
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE History and origin of beta-thalassemia in Turkey: sequence haplotype diversity of beta-globin genes. 11758688 2001
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Compound heterozygotes or homozygous mutations of the β-globin chain gene account for severe cases of β-thalassemia that require lifelong transfusion, and make it necessary to identify β-thalassemia carries for prenatal diagnosis. 21403433 2011
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Two related individuals with beta thalassaemia who carry a beta-globin gene containing a 13 nt deletion in its 3'UTR have recently been described. 12472595 2002
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE A new DNA polymorphism in the beta-globin gene cluster can be used for antenatal diagnosis of beta-thalassaemia. 6821658 1983
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Prenatal diagnosis of 3 HBB gene mutations causing β-thalassemia and hemoglobin D Punjab segregated in a South Indian nuclear family is reported along with a method identified as control for maternal cell contamination (MCC). 21316031 2011
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE We applied this procedure to the Sardinian population to detect the nonsense mutation at codon 39 and the frameshift at codon 6 of the beta globin gene; these are the most frequent beta thalassaemia mutations in this population, accounting for 95% and 2.2% of the beta thalassaemia chromosomes. 2738898 1989
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 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: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Molecular analysis of unknown beta-globin gene mutations using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) technique and its application in Thai families with beta-thalassemias and beta-globin variants. 16139831 2005