Advanced Therapies for the Treatment of Hemophilia: An End of ‘Royal Pathology’ in the Third Millennium

Hemophilia is an ideal condition for gene therapy because of its monogenetic character and the fact that it requires only a small amount of the expressed protein to achieve palliation. It is not infrequently diagnosed in the absence of a family history and its initial presentation can be bleeding in the neonatal period. In a neonate with clinically significant ongoing haemorrhage, where Hemophilia is suspected based on a prolonged APTT, it may be appropriate to administer fresh frozen plasma (FFP) while the results of appropriate factor assays are awaited. There is an advanced therapies may involve the replacement of a deficient gene by a healthy gene so that it generates a certain functional, structural or transport protein (gene therapy); the incorporation of a full array of healthy genes and proteins through perfusion or transplantation of healthy cells (cell therapy); or tissue transplantation and formation of healthy organs (tissue engineering). For their part, induced pluripotent stem cells have recently been shown to also play a significant role in the fields of cell therapy and tissue engineering. In the third millennium, Hemophilia treatment should encompass more ambitious goals through gene replacement, to result in permanent and safe Hemophilia 'eradication', making Hemophilia a part of the history of medicine. Evidence-based guidelines are also presented for the management of Hemophilia in the foetus and neonate.