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: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.050 GeneticVariation disease BEFREE Gene expression was compared in subgroups within SCA subjects with co-inherited fetal hemoglobin (HbF) or alpha-globin gene deletions. 31255916 2019
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.050 GeneticVariation disease BEFREE Analysis of known genetic modifiers of SCA demonstrated a high frequency of α-thalassemia (58.4% with at least a single α-globin gene deletion) and G6PD deficiency (19.7% of males and 2.4% of females) across sites. 29318647 2018
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.050 GeneticVariation disease BEFREE Steady-state haemorheological profile, biological parameters, β<sup>S</sup> -haplotypes, alpha-globin status, vaso-occlusive crisis (VOC) and acute chest syndrome frequencies were analysed in 128 children (aged 5 to 18 years) with SCA. 28097791 2017
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.050 Biomarker disease BEFREE Furthermore, we examined genetic variations in glucose-6-phosphate dehydrogenase (G6PD) and HBA (α-globin) genes to determine their association with intracranial vasculopathy in children with SCA. 22958163 2012
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest
0.050 Biomarker disease BEFREE It is suggested that reduced level of alpha-chain ameliorates SCA while excess of alpha-globin chain production gives rise to a severe form of SCA. 8411313 1993