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: C0702157
Disease: Thalassemia trait
Thalassemia trait
0.060 Biomarker disease BEFREE The elevated HbA2 ≥5.3% is a useful marker for initial discrimination between homozygous HbE with and without α0-thalassemia trait. 29267983 2018
CUI: C0702157
Disease: Thalassemia trait
Thalassemia trait
0.060 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: C0702157
Disease: Thalassemia trait
Thalassemia trait
0.060 GeneticVariation disease BEFREE This study was carried out to identify molecular and hematological features of α- globin chain variants and to evaluate their effects on the clinical and hematological characteristics in Iranian individuals suspected of having thalassemia trait. 22924376 2012
CUI: C0702157
Disease: Thalassemia trait
Thalassemia trait
0.060 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
CUI: C0702157
Disease: Thalassemia trait
Thalassemia trait
0.060 GeneticVariation disease BEFREE A consistently mild phenotype (10 families) was caused by compound heterozygosity for a silent mutation, such as -101 C-T or by coexistence of triplicated alpha-globin genes with thalassemia trait. 8980256 1997
CUI: C0702157
Disease: Thalassemia trait
Thalassemia trait
0.060 AlteredExpression disease BEFREE Heterozygosity is expressed as a thalassemia trait with moderate anemia, low MCV (57 fl), raised HbA2 (6.7%), and normal fetal hemoglobin (1.4%). 9371533 1997