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: C0869532
Disease: Beta thalassemia minor
Beta thalassemia minor
0.020 GeneticVariation disease BEFREE HbA2 mutations either structurally stable and visible or undetectable because of a thalassemia effect or instability are clinically asymptomatic but may compromise the diagnosis of beta-thalassemia minor. 20678137 2011
CUI: C0869532
Disease: Beta thalassemia minor
Beta thalassemia minor
0.020 AlteredExpression disease BEFREE Beta thalassemia minor phenotypes with normal HbA2 levels and decreased MCV and MCH values are relatively rare beta-thalassemia traits. 16785121 2006