Use

Alpha-globin gene sequencing is instrumental in identifying both point alterations and small deletions within the alpha-globin genes that account for nondeletional alpha-thalassemia variants. While large deletions are common, representing 90% of alterations, this sequencing aids in detecting the remaining 10%. Alpha-thalassemia is globally prevalent, impacting approximately 5% of the population and is common among individuals from Southeast Asian, African, Mediterranean, Indian, and Middle Eastern descent. This sequencing is particularly useful as a follow-up to abnormal hemoglobin electrophoresis when alpha-globin chain variants are identified or in symptomatic individuals to test for nondeletional alpha thalassemia.