HBA2, hemoglobin subunit alpha 2, 3040

N. diseases: 182; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease BEFREE The deletional HbH disease had higher levels of RBC counts, total Hb, pack cell volume (PCV), mean corpuscular Hb (MCH), mean corpuscular Hb concentration (MCHC), HbA, and HbA2 than did the nondeletional HbH disease. 29346671 2018
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE Moreover, specific types of non-deletional HbH disease with production of mutant alpha-globin chains that do not bind to AHSP (Hb Constant Spring and Hb Pakse) showed the highest AHSP expression. 28337528 2017
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease GENOMICS_ENGLAND Fetal Anemia and Hydrops Fetalis Associated with Homozygous Hb Constant Spring (HBA2: c.427T > C). 26757782 2016
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE Haemoglobin (Hb) Adana (HBA2:c.179>A) interacts with deletional and nondeletional α-thalassaemia mutations to produce HbH disorders with varying clinical manifestations from asymptomatic to severe anaemia with significant hepatosplenomegaly. 27271331 2016
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 AlteredExpression disease BEFREE Hence, more investigation needs to identify factors like other genetic loci linked and/or unlinked to the α-globin genes affecting molecular mechanisms that influence clinical expression of HbH disease. 26460264 2015
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE α-Globin gene deletions corresponding to α-thalassemia trait or silent carrier were observed in all samples with the HbH less than 2% phenotype. 23955447 2013
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease BEFREE We successfully applied this to characterize the α-globin gene status in 150 Omani cord blood samples with Hb Barts and 32 patients with HbH disease. 23668236 2013
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE Of these patients, 60 (70%) had HbH, 23 (27%) had HCS, and 3 (3%) had other, nondeletional forms of hemoglobin H disease. 21345100 2011
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE A novel frameshift mutation cd 43/44(-C) at the α2-globin gene was identified in a Chinese boy with hemoglobin H disease by sequencing. 20691621 2010
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 AlteredExpression disease BEFREE We studied the alpha-globin gene abnormalities, the clinical features, hematologic values, growth assessment, transfusion therapy, and serum ferritin levels of patients with hemoglobin H (HbH) disease in southern Thailand. 19390853 2009
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE Alpha-2-globin gene polyadenylation (AATAAA-->AATAAG) mutation in hemoglobin H disease among Kuwaitis. 16103716 2005
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE This alpha+-thalassaemia deletion was found to give rise to an atypical haemoglobin H (HbH) disease characterized by a non-transfusion-dependent moderate microcytic hypochromic anaemia in combination with a poly adenylation signal mutation of the alpha-globin gene (alpha2 AATAAA --> AATA-- --). 12542500 2003
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE The analysis of the alpha-globin gene organization in 111 HbH patients showed 76 cases (68.5%) were of the deletion type, 8 had Hb Constant Spring and the other cases were of non-deletion type. 11694246 2001
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE A variety of mutated alpha-globin genes was found in the patients with nondeletional type of hemoglobin H disease. 10954762 2000
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 AlteredExpression disease BEFREE To determine serum immunoreactive erythropoietin (Epo) and soluble transferrin receptors (sTfR) levels in patients with hemoglobin H (HbH) disease and the correlation with HbH levels and alpha-globin genotype. 9856674 1998
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease BEFREE Mice with three dysfunctional alpha-globin genes generated by breeding the 5' alpha-globin knockouts (.alpha/alpha alpha) and the deletion type alpha-thalassemia mice (../alpha alpha) produce severe hemoglobin H disease and they die in utero. 8781443 1996
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease BEFREE This heterogeneity depends on the fact that the alpha 2-globin gene produces 2-3 times alpha-globin chains than the alpha 1-gene and the single remaining alpha 1-like globin gene in the -alpha 3.7 chromosome has a compensatory increase in the alpha-globin chain output. alpha-Globin gene mapping of HbH disease patients may be useful for predicting the clinical outcome and to improve genetic counseling. 1414154 1992
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease GENOMICS_ENGLAND Separation and study of corrinoid cobalt-ligand isomers by high-performance liquid chromatography. 2050764 1991
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease BEFREE Dysfunctional alpha-globin gene in hemoglobin H disease in blacks. A dinucleotide deletion produces a frameshift and a termination codon. 2831226 1988
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE Combination of three alpha-globin gene loci deletions and hemoglobin New York results in a severe hemoglobin H syndrome. 3826056 1987
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE The results establish that in these black subjects HbH disease is associated with dysfunctional alpha-globin genes (genotype: -alpha/-alpha T). 2891296 1987
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease BEFREE These data showed that factor(s) in the mouse erythroleukemia cell can genetically complement the alpha-globin gene defect in these preleukemia patients with acquired hemoglobin H disease and suggest that altered expression of a gene in trans to the alpha-globin gene may be responsible for the acquisition of hemoglobin H disease in these patients. 3031681 1987
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE An alpha-globin gene initiation codon mutation in a black family with HbH disease. 3620699 1987
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 Biomarker disease BEFREE DNA samples from 60 Chinese patients with haemoglobin H disease were analysed by restricted endonuclease mapping to determine the patterns of alpha-globin gene organisation and the distribution of these patterns in China. 2857363 1985
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease
0.600 GeneticVariation disease BEFREE Cloning and sequence analysis of the alpha-globin genes from a Sardinian patient with the nondeletion type of hemoglobin-H disease revealed a new type of thalassemia lesion. 6490612 1984