Related family members with elevated HbA2
In carrier screening for the classical beta-thalassemia trait, the hallmark is the presence of an elevated level of HbA2. Once an index carrier is identified, the family members can be screened (cascade screening) with spectrometry and high-performance liquid chromatography (HPLC). This procedure necessitates the accurate estimation of Hb A2 (α2δ2).
Another way of identifying people with thalassemia major is neonatal screening.