Dalla ricerca alla clinica : l'esempio delle emoglobinopatie

ma fortunatamente molte sono silenti dal punto di vista clinico. La più importante è la HbS responsabile di anemia falciforme o drepanocitosi ( sickle cell disease). ii. le forme che si caratterizzano per una ridotta o assente sintesi della globina geneticamente mutata, che sono rappresentate dalle "sindromi talassemiche". Negli ultimi anni sono state sviluppate terapie molecolari e nuove terapie farmacologiche per le emoglobinopatie aprendo un nuovo scenario per la cura di queste patologie. [Testo dell'editore]

The hemoglobinopathies are hereditary red cell disorders due to an abnormal globin chain that leads to ineffective erythropoiesis and consequent anemia. According to the globin chain defect two main groups could be distinguished: i. hemoglobin variants (more than 400) that cause an abnormal function of the hemoglobin such as different O2 affinity, dehydration etc. Among these, the most clinically relevant is HbS (sickle cell anemia) very common in Africa and South-east Asia. ii. thalassemia forms due to a reduced or absent production of the affected globin, leading to different amounts of ineffective erythropoiesis and consequent anemia. The most severe forms of thalassemia (usually homozygous for severe beta globin mutations) are transfusion dependent, which means that patients should receive 2/3 units of red blood cells transfusions every 2/3 weeks along life. The hemoglobinopathies are prevalent in Africa, South-east Asia, middle east and Mediterranean basin however due to recent migration they are spread

all over the word. During the last decade gene therapy and novel pharmacological therapies have been developed for the cure of such disorders. [Publisher's Text]