Studies have been conducted to identify the presence of mutations in these individuals.10,11,12,13,14 Giambona et al. found that 80% of patients in this group in an Italian population were negative for molecular defects, and the most significant finding was the presence of beta thalassaemia gene mutations found mostly in patients with HbA2 in the region of 3.5–3.9 and mean cell volume < 80 fL.11 The gene discussed is HBA2; the disease is beta thalassemia.