HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Cooley's anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease CLINVAR
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 CausalMutation disease CLINVAR
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 Biomarker disease CTD_human beta 0 thalassemia, a nonsense mutation in man. 88735 1979
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 Biomarker disease BEFREE beta globin gene fragments from a patient with homozygous beta+-thalassemia have been cloned and subjected to restriction endonuclease, nucleotide sequence, and in vitro trancription analyses. 6264477 1981
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 Biomarker disease BEFREE Isolation and characterization of cloned DNA: the delta and beta globin genes in homozygous beta + thalassemia. 6256028 1981
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 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: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 Biomarker disease BEFREE A beta globin gene from a patient with homozygous beta+ thalassemia has been cloned and completely sequenced. 6280138 1982
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE Using this procedure, we have determined the nucleotide sequence of a cloned human beta-globin gene from a Kurdish Jew with beta +-thalassemia major. 7076659 1982
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 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: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE The beta-globin gene from a patient with homozygous beta-thalassemia in Taiwan was cloned and extensively sequenced. 6826539 1983
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE We recently reported a TATA box mutation (ATAAAA to ATACAA) in a cloned beta-globin gene from a Kurdish Jew with homozygous beta thalassemia (Poncz, M., Ballantine, M., Solowiejczyk, D., Barak, I., Schwartz, E., and Surrey, S. (1982) J. Biol.Chem.257, 5994-5996). 2987224 1985
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE Eleven restriction site polymorphisms in the beta-globin gene cluster were determined in 48 Chinese with homozygous beta-thalassemia and their parents. 3011644 1986
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 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: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE There is marked linkage disequilibrium at the BamH I site 3' to the beta globin gene, such that, in 31% of pregnancies, absence of the site in the fetus can exclude beta thalassemia major. 2887108 1987
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE A new frameshift mutation due to an insertion of G between codon 14/15 of the beta-globin gene was found in two unrelated Chinese patients with Cooley's anemia.The first patient (W.S.) was homozygous for haplotype 5 (Chinese) and carried a codon 41/42 (four base pair deletion) mutant, while the second patient (C.K.) was homozygous for haplotype 2 (Chinese), and also had a codon 17 (A----T) nonsense mutation. 2901867 1988
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE In this study we have carried out haplotype analysis on the beta-globin gene cluster and characterized the beta-thalassemia mutation by oligonucleotide hybridization in 14 patients with thalassemia major and 5 with sickle cell/beta-thalassemia originating from southern Portugal. 3338791 1988
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major. 2736244 1989
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the beta-globin gene cluster: epsilon-HincII, G gamma-HindIII, A gamma-HindIII, phi beta-HincII, 3' phi beta-HincII, beta-AvaII, and 3' beta-BamHI. beta-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. 1973294 1990
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 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: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene. 1856830 1991
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE Beta-thalassemia major resulting from a compound heterozygosity for the beta-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene. 1351038 1992
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE To characterize mutations rapidly in 43 patients with beta-thalassemia major in Taiwan, we utilized a method of natural and amplified created restriction site (ACRS) analysis for detection of beta-globin gene mutation. 8161731 1993
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE Beta-thalassemia major (TM) is caused by any of approximately 150 mutations within the beta-globin gene. 7579421 1995
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE The analysis of polymorphic markers within the beta globin cluster in 39 individuals heterozygous for beta thalassemia or Hb Lepore confirms the previous findings for homozygous beta thalassemia: the presence of both an (AT)9 T5 sequence configuration at position -540 of the beta globin gene and a (C --> T) variation at -158 of the Ggamma globin gene is associated with elevated expression of HbF. 9544969 1998
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		0.700 GeneticVariation disease BEFREE With the above considerations we developed an accurate and reliable strategy for analysis of beta-globin gene mutations, applicable for PGD for the wide spectrum of beta-thalassaemia major genotypes in the Greek population. 10660958 1999