HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Disease: beta Thalassemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE The co-inheritance alpha globin gene deletions in female beta thalassemia patients were significantly lowering serum iron. 31705350 2020
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Alpha globin gene triplication was seen in 2.1% of β thalassemia heterozygotes with a thalassemia intermedia phenotype. 30489691 2019
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE In Sri Lanka, co-inheritance of either excess α globin genes in β thalassaemia heterozygotes or α globin gene deletions in β thalassaemia homozygotes is a significant factor in modulating disease severity. 31300739 2019
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE Therefore, it can be concluded that the high HbF concentration in the present study is predominantly associated with other mutations associated with β‑thalassemia rather than α‑globin deletions. 29138844 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE Identification of the genetic variants modifying fetal hemoglobin (HbF) production in combination with α globin genotype provide some prediction of disease severity for β thalassemia but generation of a personalized genetic risk score to inform prognosis and guide management requires a larger panel of genetic modifiers yet to be discovered. 28651846 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE β thalassemia is characterized by a deficient production of functional β-globin chains and a relative excess of α-globin chains. 29309373 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Thalassemia major phenotype caused by HB Zürich-Albisrieden [α2 59(E8) Gly > Arg (HBA2:C.178G > C)] in a Brazilian child. 30151892 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Xenograft assays show that a proportion of the edited CD34+ cells are long-term repopulating hematopoietic stem cells, demonstrating the potential of this approach for translation into a therapy for β-thalassemia.β-thalassemia is characterised by the presence of an excess of α-globin chains, which contribute to erythrocyte pathology. 28871148 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE The severity of β-thalassaemia (β-thal) intermedia is mainly correlated to the degree of imbalanced α/non α-globin chain synthesis. 28643346 2017
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE A large body of clinical, genetic, and experimental evidence suggests that altering globin chain imbalance by reducing the production of α-globin synthesis ameliorates the disease severity in patients with β-thalassemia. 26695885 2016
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Hemoglobin F Only Syndrome at Birth: A Case of Maternal HbA2' Complicating the Diagnosis of β-Thalassemia. 26583619 2016
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Automated high performance liquid chromatography and Capillary electrophoresis are used to quantitate the proportion of Hemoglobin A2 (HbA2 ) in blood samples order to enable screening and diagnosis of carriers of β-thalassemia. 26372049 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE In 33 of 967 couples, one partner had a normal/borderline HbA2 level (1-3.5%); however a β-thalassaemia mutation could be identified in 24 of these individuals. 26456238 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE The value of MCV, MCH and HbA2 were significantly different between α,β-thalassaemia and simple β-thalassaemia in men and women, but the mean values of Hb in the two groups differed markedly only in men. 25935548 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE Here we review the evidence that reduction of α-globin expression may provide an equally plausible approach to ameliorating clinically severe forms of β-thalassemia, and in particular, the very common subgroup of patients with hemoglobin E β-thalassemia that makes up approximately half of all patients born each year with severe β-thalassemia. 25869286 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE The severe clinical phenotype seemed to be related to the considerable excess of the α-globin and the β-globin deficit caused by the presence of the β-thalassemia. 26086873 2015
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE Because increased HbF and HbA2 levels are important features of β-thalassemia, we examined whether there is any relationship between KLF1 mutation and β-thalassemia in China. 24829204 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE Our study showed that in most of the alpha thalassemia carriers just one copy of alpha globin gene was absent and they are not at risk of having children with Hb H disease or hydrops fetalis; however, up to 2.2% of neonates were carriers for ααα(anti3.7) triplication and they will be at risk for having a child with thalassemia intermediate if they marry a person which is a carrier of beta thalassemia. 24074530 2014
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE The HbA2 levels were all >4% in keeping with the findings of classical β-thalassaemia trait and significantly higher than levels seen in non-deletional forms of β-thalassaemia. 23222244 2013
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE Approximately 80% of α-thalassemia mutations are deletions in the α-globin cluster on chromosome 16 and about 10% of β-thalassemia mutations are deletions in the β-globin gene cluster on chromosome 11. 23491071 2013
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE Milder hematological phenotypes were noted in β⁺ compared with β⁰ thalassemia traits when the α globin genes were intact. 23525874 2013
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 GeneticVariation disease BEFREE The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β thalassaemia in Sri Lanka. 23138098 2013
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 Biomarker disease BEFREE Approximately 6% of cases with minor thalassemia RBC index and normal HbA2 and having a decreased β/α ratio were located in the minor β-thalassemia group. 23852782 2013
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE Our data suggest that FV vectors with the α-globin HS40 element can be used as alternative but equally efficient vehicles for human β-globin gene expression for the genetic correction of β-thalassemia. 21734726 2012
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.400 AlteredExpression disease BEFREE Compromising for carrier detection of beta thalassemia based on measurement of HbA2 levels in unusual cases. 22659060 2012