Objective: To investigate the incidence and the gene mutation frequencies and patterns of β-thalassemia (β-Thal) in ethnic Han children in Chongqing city.
Method: A total of 1726 children were screened by using automatic hemocytic analyzer, cellulose acetate electrophoresis and fetal hemoglobin alkali denaturation test. Samples with mean corpuscular volume (MCV) < 80 fl, cell hemoglobin content (MCH) < 27 pg and hemoglobin A2 (HbA2) levels >3.