HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Hemoglobin F Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype. 28879539 2017
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 Biomarker disease BEFREE Hereditary persistence of foetal haemoglobin (HPFH) and (δβ)(0) -thalassaemia are conditions caused by large deletions that involve δ- and β-globin genes in the β-globin cluster, and they are characterized by increased haemoglobin (HbF) levels in adults. 24471888 2014
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 Biomarker disease CTD_human Resveratrol accelerates erythroid maturation by activation of FoxO3 and ameliorates anemia in beta-thalassemic mice. 23975182 2014
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Larger deletions involving the β-globin gene cluster lead to (δβ)-, (γδβ)-, (εγδβ)-thalassemia, or hereditary persistence of fetal hemoglobin (HPFH). 23491071 2013
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GermlineCausalMutation disease ORPHANET The Hellenic type of nondeletional hereditary persistence of fetal hemoglobin results from a novel mutation (g.-109G>T) in the HBG2 gene promoter. 19050890 2009
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 Biomarker disease CTD_human mRNA expression of iron regulatory genes in beta-thalassemia intermedia and beta-thalassemia major mouse models. 16755567 2006
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 Biomarker disease BEFREE Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition caused by the failure of normal switching from the fetal to the adult beta-globin gene, resulting in continuous production of fetal hemoglobin beyond the perinatal period. 16271016 2005
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. 10022837 1999
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Hereditary persistence of fetal hemoglobin (HPFH) has typically been ascribed to mutations in the beta-globin gene cluster. 7535584 1995
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE The beta-globin gene clusters of three unrelated Thai families with a nondeletional type of hereditary persistence of fetal haemoglobin (HPFH) were studied using polymerase chain reaction-related techniques. 7527242 1994
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE A considerable number of deletions of variable size and position that involve the beta-globin gene complex on chromosome 11 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia. 7510147 1994
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE A novel 30 kb deletion of the beta-globin gene cluster associated with the phenotype of hereditary persistence of fetal hemoglobin (HPFH) is described in two unrelated individuals of Vietnamese background. 7689901 1993
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE The most common forms of hereditary persistence of fetal hemoglobin synthesis (HPFH) and delta beta zero-thalassemia result from simple deletions of the beta-globin gene cluster or from point mutations in the gamma-globin gene promoters. 1571556 1992
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant. 1704267 1991
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Various types of thalassemia or hereditary persistence of fetal hemoglobin (HPFH) are caused by deletions at the human beta-globin gene cluster. 2276746 1990
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer. 1689188 1990
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE The breakpoint of a large deletion causing hereditary persistence of fetal hemoglobin occurs within an erythroid DNA domain remote from the beta-globin gene cluster. 2478223 1989
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Analyses of linked beta-globin genes suggest that nondeletion forms of hereditary persistence of fetal hemoglobin are bona fide switching mutants. 2450454 1988
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Hemoglobin F production in heterocellular hereditary persistence of fetal hemoglobin and its linkage to the beta globin gene complex. 2458313 1988
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Southern blot analysis using probes 3' to the beta-globin gene showed that the deletion extends in the 3' direction further than any other deletions associated with delta beta-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) heretofore reported. 3179447 1988
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE We report a new type of deletion of the beta globin gene cluster in the Italian population that confers a phenotype of hereditary persistence of fetal hemoglobin (HPFH) to the carriers. 2427137 1986
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 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: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 GeneticVariation disease BEFREE Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster. 6201431 1984
CUI: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 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: C0019025
Disease: Hemoglobin F Disease
Hemoglobin F Disease 		0.600 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