DOI: 10.36347/sjams.2023.v11i08.026

Pages: 1532-1537

Alpha-Thalassemia is the commonest hereditary monogenic disease worldwide. α-thalassemia is caused by α-globin gene losses and categorized into α-thalassemia 1 and α-thalassemia 2 depending on how many α-globin genes are functioning. Α thalassemia 1 is defined by inactivation of both α-globin genes on a chromosome, while in α-thalassemia 2, one gene is active. The clinical phenotype depends on the degree of genes impairment. This review will present an overview of α-thalassemia, its incidence, causes, and clinical characterization, and discuss different laboratory techniques used for the diagnosis.