HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Disease: Anemia, Sickle Cell ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE A novel human gamma-globin gene vector for genetic correction of sickle cell anemia in a humanized sickle mouse model: critical determinants for successful correction. 19474450 2009
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE We generated helper-dependent HDAd5/35<sup>++</sup> adenovirus vectors expressing CRISPR/Cas9 for potential hematopoietic stem cells (HSCs) gene therapy of β-thalassemia and sickle cell disease through re-activation of fetal γ-globin expression (HDAd-globin-CRISPR). 30038942 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE The clinical symptoms of hemoglobin disorders such as β-thalassemia and sickle cell anemia are significantly ameliorated by the persistent expression of γ-globin after birth. 24371119 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE There is a general agreement that pharmacologically mediated stimulation of human γ-globin gene expression and increase of production of fetal hemoglobin (HbF) is a potential therapeutic approach in the experimental therapy of β-thalassemia and sickle cell anemia. 31273412 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE Oral administration of ORY-3001 to SCD mice (n = 3 groups) increased γ-globin expression, Fetal Hemoglobin (HbF)-containing (F) cells, and F reticulocytes (retics). 30125603 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Hydroxyurea differentially modulates activator and repressors of γ-globin gene in erythroblasts of responsive and non-responsive patients with sickle cell disease in correlation with Index of Hydroxyurea Responsiveness. 28971909 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE To determine whether the increased fetal hemoglobin production and/or elevated G gamma globin content are tightly linked to this haplotype, we studied 55 members of five Saudi families in which sickle cell disease is present. 2441778 1987
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a group of inherited blood disorders caused by mutations in the human β-globin gene, leading to the synthesis of abnormal hemoglobin S, chronic hemolysis, and oxidative stress. 30674214 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil. 25084696 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE Enhanced fetal γ-globin synthesis alleviates symptoms of β-globinopathies such as sickle cell disease and β-thalassemia, but current γ-globin-inducing drugs offer limited beneficial effects. 23416702 2013
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE Re-expression of the paralogous γ-globin genes (HBG1/2) could be a universal strategy to ameliorate the severe β-globin disorders sickle cell disease (SCD) and β-thalassemia by induction of fetal hemoglobin (HbF, α<sub>2</sub>γ<sub>2</sub>)<sup>1</sup>. 30911135 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE The genome-wide miRNA microarray and primary erythroid progenitor data support a miR-144/NRF2-mediated mechanism of γ-globin gene regulation in SCD. 30412705 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Seventy-six percent of the fetuses were at risk for β-thalassemia major and 16% for sickle cell anemia; only a small percentage (7%) were at risk for compound heterozygosity of β-thalassemia and an abnormal hemoglobin of the β chain. 20863160 2011
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene. 25300171 2014
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE Hence, therapeutic treatment of sickle cell anemia has been focused on introducing gamma-globin gene into red blood cells to increase the cellular gamma/beta(S) ratio. 17662889 2007
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE Exploring strategies for the design of artificial transcription factors: targeting sites proximal to known regulatory regions for the induction of gamma-globin expression and the treatment of sickle cell disease. 15537646 2005
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE Because forced expression of TR2/TR4 in murine adult erythroid cells paradoxically enhanced fetal γ-globin gene expression in transgenic mice, we wished to determine if forced TR2/TR4 expression in a SCD model mouse would result in elevated HbF synthesis and thereby alleviate the disease phenotype. 22042865 2011
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene. 30480767 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Analysis of 5' flanking regions of the gamma globin genes from major African haplotype backgrounds associated with sickle cell disease. 1688883 1990
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE Erythrocyte sickling, the primary pathologic event in SCD, results in dramatic morphological changes in red blood cells (RBCs) because of polymerization of the abnormal hemoglobin. 30952675 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE Bone marrow CD34+ cells from three SCD patients were transduced using V5m3-400 or βAS3-FB and compared with mock-transduced SCD or healthy donor CD34+ cells. 25681747 2015
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Cloning and sequencing of the gamma-globin gene of a sickle cell anemia patient homozygous for the Bantu haplotype has revealed a gene conversion that involves the replacement of an A gamma sequence by a G gamma sequence in the promoter area of the A gamma gene. 2723072 1989
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability. 6248872 1980
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE This result suggests that induction of gamma-globin gene expression with PNAs might provide a new approach for the treatment of sickle cell disease. 10373600 1999
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene. 27841932 2016