Fetal haemoglobin (HbF) induction as a strategy to improve life quality in thalassemia: characterisation of HbF inducing products and preclinical models to predict therapeutic response

Beta thalassemia is due to mutations in one or both of the beta globin genes, leading to abnormal red blood cells. The different types of beta thalassemia include: (a) Beta Thalassemia Trait, including subjects that only show microcytosis and a possible mild anemia. This gene mutation can be passed on to an individual’s children. (b) Thalassemia Intermedia, including subjects with anemia requiring medical treatment. (c) Thalassemia Major (known also as Cooley's Anemia), including subjects with anemia requiring lifelong regular blood transfusions and considerable ongoing medical care. The dividing line between thalassemia intermedia and thalassemia major is the degree of anemia and the number and frequency of blood transfusions required to treat it. Those with thalassemia intermedia may need occasional transfusions. Beta thalassemia is most common in persons of Mediterranean, African and Southeast Asian descent, where thalassemia trait affects 5 to 30 percent of persons. It has been estimated that about 1.5% of the global population are carriers of beta thalassemia trait, with about 60,000 symptomatic individuals born annually, the great majority in the developing world. The total annual incidence of symptomatic individuals is estimated at 1 in 100,000 throughout the world and 1 in 10,000 people in the European Union.