Use

Beta-globin gene sequencing is useful in the evaluation of beta-globin chain variants and beta thalassemia. It detects almost all beta-globin variants and the most common beta-thalassemia sequence variants, significant in diagnosing conditions such as beta thalassemia intermedia or major. This test is also valuable in identifying specific severe beta thalassemia traits and evaluating abnormal hemoglobin electrophoresis for rare beta-globin variants. Furthermore, it is instrumental in evaluating hereditary erythrocytosis with specific oxygen dissociation results and chronic hemolytic anemia.