Out of 112 cases belonging to 65 unrelated families, we identified eight different thalassemia mutations and one Hb variant in a total of 46 cases (30 children [mean age 8.9 years; range 0.4–17.1 years] and 16 first-degree relatives; 21 females and 25 males) from 24 unrelated families. The gene discussed is GSTM1; the disease is thalassemia.