Hemofilia: diagnóstico molecular y alternativas de tratamiento
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TLDR
In this paper, otras terapias alternas, aunque estan en fase de investigación, permitirian obtener una produccion de proteina a largo termino and que se han desarrollado gracias al entendimiento de la naturaleza molecular de los factores de la coagulacion.Abstract:
La hemofilia es una enfermedad recesiva ligada al cromosoma X que generalmente padecen los hombres. El diagnostico genetico preimplantacion (DGP), el diagnostico prenatal y el diagnostico molecular de las mutaciones que causan hemofilia, se realizan en investigaciones aisladas con el fin de hacer prevencion primaria, asesorar a las portadoras y a sus familias, lo que ha permitido traer al mundo ninos libres de esta enfermedad y tambien mejorar la calidad de vida de los afectados. Los esperanzadores procedimientos en terapia genica (TG) han mostrado gran efectividad, se pretende con ella la produccion normal de la proteina que esta ausente o alterada en los afectados, pero en el momento los ensayos que se llevan a cabo en seres humanos estan detenidos. Aqui se muestran otras terapias alternas que aunque estan en fase de investigacion, permitirian obtener una produccion de proteina a largo termino y que se han desarrollado gracias al entendimiento de la naturaleza molecular de los factores de la coagulacion.read more
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Journal ArticleDOI
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study
Stylianos E. Antonarakis,J. P. Rossiter,M. Young,J. Horst,P. De Moerloose,S. S. Sommer,Rhett P. Ketterling,H. H. Kazazian,Claude Negrier,Christine Vinciguerra,Jane Gitschier,Michel Goossens,E. Girodon,N. Ghanem,F. Plassa,Jean-Maurice Lavergne,M. Vidaud,J. M. Costa,Y. Laurian,S. W. Lin,S. R. Lin,M. C. Shen,David Lillicrap,Sherryl A. M. Taylor,S. Windsor,Sophie Valleix,K. Nafa,Y. Sultan,Marc Delpech,Cindy L. Vnencak-Jones,John A. Phillips,Rolf Ljung,E. Koumbarelis,A. Gialeraki,T. Mandalaki,P. V. Jenkins,Peter William Collins,K. J. Pasi,Anne Goodeve,Ian R. Peake,F. E. Preston,Marianne Schwartz,Elma Scheibel,Jørgen Ingerslev,David Neil Cooper,David Stuart Millar,V. V. Kakkar,F. Giannelli,J.A. Naylor,E. F. Tizzano,M. Baiget,M. Domenech,Carmen Altisent,J. Tusell,M. Beneyto,J. I. Lorenzo,Christine Gaucher,Claudine Mazurier,Kathelijne Peerlinck,Gert Matthijs,Jj. Cassiman,Jozef Vermylen,P. G. Mori,M. Acquila,D. Caprino,Hiroshi Inaba +65 more
TL;DR: The presence of factor VII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors than patients without inversions.