Clinical spectrum and genotypes of children with alpha-thalassemia in northeastern, Thailand

Background: Alpha-thalassemia is a common inherited hemoglobin disorder. Hemoglobin H (Hb H) disease, a form of alpha-thalassemia caused by the inactivation of three α-globin genes through deletional or non-deletional mutations, presents with a broad clinical spectrum, ranging from non-transfusion-dependent thalassemia (NTDT) to transfusion-dependent thalassemia (TDT). Objective: To characterize the clinical manifestations and genetic diversity of alpha-thalassemia in pediatric patients.