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2013, Número 3

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Gac Med Mex 2013; 149 (3)


Hemofilia

García-Chávez J, Majluf-Cruz A

Idioma: Español
Referencias bibliográficas: 71
Paginas: 308-321
Archivo PDF: 155.20 Kb.


RESUMEN

La hemofilia es una enfermedad devastadora de origen genético, recesiva y ligada al cromosoma X, en el cual se encuentran los genes que codifican los factores hemostáticos VIII y IX. Algunas mutaciones específicas de estos genes condicionan la aparición de la hemofilia A (HA) o B (HB). Ya que la hemofilia está ligada al cromosoma X con un patrón recesivo, solo se manifiesta en los varones, aunque las mujeres son las portadoras. En México se estiman casi 6,300 casos. De los registros de otros países sabemos que las diferencias en el acceso al tratamiento condicionan distintos patrones de evolución de los enfermos. Es oportuno resaltar que, mundialmente, solo 30% de los pacientes reciben un tratamiento óptimo. La hemofilia limita todos los aspectos de su vida, y a pesar de su prevalencia baja impacta duramente los sistemas de salud. La profilaxis primaria es el estándar de oro del tratamiento de la hemofilia grave, ya que disminuye la hemorragia articular, mejora la calidad de vida y quizá reduce el riesgo de desarrollar inhibidores. En el adulto el dilema es cómo aplicar profilaxis óptima al menor costo posible. Esta revisión aborda aspectos generales de la hemofilia con énfasis en el diagnóstico y tratamiento.


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