HBA1, hemoglobin subunit alpha 1, 3039

N. diseases: 200; N. variants: 25
Disease: Hemoglobin H Disease ×
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 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 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 Biomarker disease GENOMICS_ENGLAND Rapid prenatal diagnosis of common beta-thalassemia mutations in Southeast Asia using pyrosequencing. 23794144 2013
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 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 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 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 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 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 Restriction enzyme analysis indicates that the child's HbH disease results from the inheritance of an alpha-thalassaemia 2 chromosome (-alpha/) from his mother and, from his father, a chromosome which has undergone a deletion including the zeta- and alpha-globin genes as well as an undefined length of DNA. 6704328 1984
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
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		0.600 Biomarker disease BEFREE The presence of hemoglobin H (beta 4), resulting from a deficiency of alpha-globin chain synthesis, was observed as an acquired characteristic in the red cells of five elderly patients with myeloproliferative disorders or preleukemia. 6881169 1983