Among the 11,549 subjects, 2,457 cases were detected with mutations by routine thalassemia testing, whereas the remaining 91 cases showed continuous hypochromic microcytic anemia, an increased HbA2 or HbF value, or an abnormal hemoglobin fraction by hematological screening and underwent further rare or novel thalassemia genetic analysis. The gene discussed is HBA2; the disease is thalassemia.