HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
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 		0.800 Biomarker disease CTD_human Loss of NRF2 function exacerbates the pathophysiology of sickle cell disease in a transgenic mouse model. 29255069 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Mutations of the beta-globin gene (HBB) cause beta-thalassaemia and sickle cell anaemia. 29853423 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Genetic variants at three quantitative trait loci (QTL) for fetal haemoglobin (HbF), BCL11A, HBS1L-MYB and the β-globin gene cluster, have attracted interest as potential targets of therapeutic strategies for HbF reactivation in sickle cell anaemia (SCA). 29879141 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Globally, sickle cell disease (SCD) is one of the commonest severe monogenic disorders, due to the inheritance of two abnormal haemoglobin (beta globin) genes. 30067867 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Variability of homozygous sickle cell disease: The role of alpha and beta globin chain variation and other factors. 28689691 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is caused by a mutation of the β-globin gene (Ingram VM. 30067082 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Sickle cell anemia (SCA) and β -thalassemia major are well-recognized beta-globin gene disorders of red blood cells associated to mortality and morbidity included bone morbidities due to ineffective erythropoiesis and bone marrow expansion, which affect every part of the skeleton. 29447888 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is an inherited blood disorder caused by a single amino acid substitution in the β-globin chain of hemoglobin. 30198339 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. 29542687 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell anemia (SCA) is an autosomal recessive disorder caused by mutation in the β-globin gene. 28823762 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is a monogenetic disorder caused by a mutation in the β-globin gene HBB leading to polymerization of red blood cells causing damage to cell membranes, increasing its rigidity and intravascular hemolysis. 29614633 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE The primary β-globin gene mutation that causes sickle cell disease (SCD) has significant pathophysiological consequences that result in hemolytic events and the induction of the inflammatory processes that ultimately lead to vaso-occlusion. 29614637 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 Biomarker disease BEFREE Sickle cell disease (SCD) is an inherited disease of the beta globin gene. 29157167 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is an inherited disorder caused by a variant (<i>rs</i>334) in the β-globin gene encoding hemoglobin. 29385701 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE β-hemoglobinopathies such as sickle cell disease (SCD) and β-thalassemia result from mutations in the adult HBB (β-globin) gene. 29610478 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE This strategy of restoring functional HBB gene expression will be able to correct most types of HBB gene mutations in β-thal and SCD. 29164808 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Mutations of the beta-globin gene (HBB) cause beta-thalassaemia and sickle cell anaemia. 29853423 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE A Universal Approach to Correct Various HBB Gene Mutations in Human Stem Cells for Gene Therapy of Beta-Thalassemia and Sickle Cell Disease. 29164808 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Beta-thalassemia (β-thalassemia) minor is characterized by a mutation in one of the two β-globin genes (HBB) that produce the β-globin chains in the hemoglobin molecule. 30395680 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Beta-thalassemia is a genetic disorder that is caused by variations in the beta-hemoglobin (HBB) gene. 29619482 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE We now report genetic correction of the beta hemoglobin (HBB) gene in iPSCs derived from a patient with a double heterozygote for hemoglobin E and β-thalassemia (HbE/β-thalassemia), the most common thalassemia syndrome in Thailand and Southeast Asia. 29482624 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE With this view in mind, the study aimed to establish a high resolution melting (HRM) curve-based rapid and reliable mutation screening method targeting the mutational hot-spot of South Asian and Southeast Asian countries that encompasses exon-1 (c.1 - c.92), intron-1 (c.92 + 1 - c.92 + 130) and a portion of exon-2 (c.93 - c.217) of the HBB gene which harbors more than 95% of mutant alleles responsible for beta-thalassemia in Bangladesh. 29295702 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.800 GeneticVariation disease BEFREE Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations. 29240028 2018
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle Cell Disease (SCD) is a painful, lifelong hemoglobinopathy inherited as a missense point mutation in the hemoglobin (Hb) beta-globin gene. 28378932 2017
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.800 GeneticVariation disease BEFREE Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. 28500860 2017