CLINICAL AND HEMATOLOGICAL RESPONSE TO HYDROXYUREA IN A PATIENT WITH HB LEPORE BETA-THALASSEMIA/

The possibility of increasing Hb F in vivo using drugs like 5-azacytid ine, hydroxyurea, and butyrate has been established. However, in many cases this does not entail an increase in total hemoglobin. We report on a patient with Hb Lepore/beta-thalassemia being treated with hydrox yurea (30 mg/Kg/day) because of the presence of erythroid extramedulla ry masses with severe neurological abnormalities. During therapy the p atient showed a remarkable improvement in neurological signs due to th e reduction in extramedullary masses, a significant increase in both t otal hemoglobin (from 5.8 to 9.7 g/dl) and Hb F (from 4.9 g/dl to 9.1 g/dl). The marked improvement in hemoglobin level in our patient with Hb Lepore/beta-thalassemia suggests gamma-globin gene activation due t o the DNA structure determined by the crossover event.