[Physiopathological basis of sickle cell disease, management and current therapeutics]

Physiopathological knowledge in the area of sickle cell disease underwent a first major development three decades ago, some 15 years after the discovery of the molecular nature of the disease. Several physiopathological areas can be distinguished: physiopathology of polymerisation which has been successfully approached by fundamental biophysicists and biochemists alike; physiopathology of the red blood cell; more recently, the characterisation of red blood sickle cells by extra-hemoglobin aspects: the red blood cell is not a passive recipient for hemoglobin but carries out a series of functions which can contribute to physiopathology; the phenomenon of vaso-obstruction is still poorly understood, whereas clinical secondary manifestations of the disease, the physiopathology of infectious risk and severe anaemic manifestations have been well understood. The treatment of sickle cell patients continues to evolve and progress. There are certain characteristics which remain, however, permanent: there is continual interaction between preventive and therapeutic measures; treatment must be both medical and social, given the impact of the disease of the individual and his family or vice-versa; treatment is centred around the hospital with more than ever the necessity to ensure excellence in internal medicine or paediatrics, intensive care and transfusion. Finally, the distinction among three periods for the natural history of the disease remain: before 7 years of age, from 7 years to adult age, adulthood. An integrated, pilot centre for treating patients with sickle cell disease is of crucial importance and can contribute to therapeutic innovations in the area.