HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Disease: Sickle Cell Trait ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 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: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 Biomarker disease BEFREE Patients with sickle cell anemia (SCA) have abnormal hemoglobin (sickle hemoglobin S) leading to the crystallization of hemoglobin chains in red blood cells (RBCs), which assume sickle shape and display reduced flexibility. 28579187 2017
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 GeneticVariation disease BEFREE Sickle cell trait (SCT) places individuals at risk of passing an abnormal hemoglobin gene to biological children and is associated with rare but serious complications. 27550467 2017
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 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
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 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: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 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. 23152248 2012
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 Biomarker disease BEFREE Abnormal hemoglobin distribution on global map, of which hemoglobin S (Hb.S) accounted for about 80% of the disorders resulting from them are more prevalent in the tropics and sub-tropics. 21288648 2011
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 Biomarker disease BEFREE Sickle cell anemia results from the single amino acid substitution of valine for glutamic acid in the beta-chain owing to a nucleotide defect that causes the production of abnormal beta-chains in hemoglobin S. Abnormal hemoglobin chains form polymers in the deoxygenated state, leading to the characteristic sickle cells. 17556734 2007
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 Biomarker disease BEFREE Our findings offer the prospect of using this approach to reduce the proportion of intracellular hemoglobin S. Gene therapy strategies which combine gamma-globin induction along with beta-globin inhibition using antisense vectors may yield more favorable anti-sickling effects longterm. 15040426 2004
CUI: C0037054
Disease: Sickle Cell Trait
Sickle Cell Trait 		0.100 Biomarker disease BEFREE Human gamma-globin and delta-globin chains have been previously identified as strong inhibitors of the polymerization of hemoglobin S, in contrast to the beta-globin chain, which exerts only a moderate antisickling effect. 7708766 1995