[Relevance of early paediatric care for boys with severe haemophilia]

Major molecular and genetic findings over the last decades and subsequent applications for diagnosis and therapeutic concerns have dramatically improved the evolution of severe haemophilia in countries with high economic resources. Another major factor of progress consisted in the setting of comprehensive care centres coordinating the care at a regional level. The early involvement of paediatricians for this rare and potentially serious chronic disease, which may be symptomatic from birth, is relevant in this context. Indeed, the early diagnosis of severe haemophilia and the involvement of expert caregivers in a multidisciplinary approach, are essential to make the acceptance of the disease easier. The diagnosis announcement should go together with a therapeutic project, which is nowadays based on long-term prophylaxis. Awaiting for likely curative treatments in the future, such as gene therapy, early implementation of prophylaxis and observance of this gold standard treatment during all the period of growth are critical to prevent the haemophilic arthropathy, to favour the future social and work-related integration and overall to improve the quality of life. The occurrence of an inhibitor represents the major residual complication of replacement therapy, especially for young children with severe haemophilia A. Even though new therapeutic resources brought substantial improvements for inhibitor patients, a better understanding of risk factors is a key issue since more accurate replacement regimen might induce tolerance during the first exposures and subsequently might prevent this complication. Prophylaxis and inhibitors that represent major concerns in paediatric care of severe haemophilia are included as main research objectives for the national registry " FranceCoag Network".