Les thalassémies en 2016

Thalassemia are hemoglobinopathies with recessive autosomal inheritance characterized by microcytic and hypochromic anemia of variable severity. Thalassemia are classified into intermediate or major forms according to anemia severity with a continuum of severity between the types depending on different genetics factors. This review describes the Thalassemia in France on 2016, the clinical follow up, diagnostic and specific measures settled in the context of the national plans for rare diseases. Clinical and biological data concerning Thalassemia patients in France are collected in a national register which allows a harmonization and an optimization of clinical monitoring. The improvement of conventional treatments and the perspective of innovative therapies such as gene therapy contribute to the global improvement in the monitoring of this rare disease in France.