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 Biomarker disease BEFREE Sickle cell disease is a group of conditions characterized by production of abnormal hemoglobin, with clinical manifestations that vary by genotype and age. 10343888 1999
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by a single point mutation in the human betaA globin gene that results in the formation of an abnormal hemoglobin [HbS (alpha2betaS2)]. 11743206 2001
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE Sickle cell anemia (SCA) is a common hematological disorder among individuals of African descent in the United States; the disorder results in the production of abnormal hemoglobin. 28115816 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE Sickle cell disease (SCD) is an autosomal recessive disorder that results in hemolytic anemia related to abnormal hemoglobin and erythrocyte levels. 29309293 2018
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 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 Biomarker disease BEFREE Although the seminal event in sickle cell disease is the polymerization of abnormal hemoglobin, the downstream pathophysiology of vasoocclusion results from heterotypic interactions between the altered, adhesive sickle cell red blood cells, neutrophils, endothelium, and platelets. 30504350 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 Approximately 100,000 Americans have sickle cell disease (SCD), a group of recessively inherited red blood cell disorders characterized by abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in the red blood cells. 29166365 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE Because butyrate and alpha-amino-n-butyric acid (ABA) augment gamma globin expression in normal neonatal and adult erythroid progenitors, we investigated the effects of sodium butyrate and ABA on erythroid progenitors of patients with beta thalassemia and sickle cell anemia who might benefit from such an effect. 2473801 1989
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 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 AlteredExpression disease BEFREE Collectively, our data implicate FOXO3 as a positive regulator of γ-globin expression and identify metformin as a potential therapeutic agent for SCD. 29884740 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE Disorders resulting from mutations in the hemoglobin subunit beta gene (HBB; which encodes β-globin), mainly sickle cell disease (SCD) and β-thalassemia, become symptomatic postnatally as fetal γ-globin expression from two paralogous genes, hemoglobin subunit gamma 1 (HBG1) and HBG2, decreases and adult β-globin expression increases, thereby shifting red blood cell (RBC) hemoglobin from the fetal (referred to as HbF or α2γ2) to adult (referred to as HbA or α2β2) form. 27525524 2016
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 Biomarker disease BEFREE DMF recruited Nrf2 to the γ-globin promoters and the locus control region of the β-globin locus in erythroleukemia cells, elevated HbF in SCD donor-derived erythroid progenitors, and reduced hypoxia-induced sickling. 29046485 2017
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 GeneticVariation disease BEFREE Dominant influence of gamma-globin promoter polymorphisms on fetal haemoglobin expression in sickle cell disease. 15040425 2004
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 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 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 Exposure to butyrate resulted in an augmentation of gamma-globin mRNA levels in both SCD and beta-Thal. 19346141 2009
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease BEFREE Five SNPs in the three QTLs (HBG2, rs7482144; BCL11A, rs1427407 and rs10189857; and HBS1L-MYB intergenic region, rs28384513 and rs9399137) were investigated by multiplex PCR and reverse hybridization, and their roles in HbF and clinical phenotype variability in Iraqi Kurds with SCD were assessed. 30216683 2019
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 GeneticVariation disease GWASCAT Genetic determinants of haemolysis in sickle cell anaemia. 23406172 2013
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.200 AlteredExpression disease BEFREE Genetic knockout of NRF2 demonstrates its role in developmentally regulated γ-globin gene expression and the ability to control oxidative stress and the phenotypic severity of SCD. 29255069 2018