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. 2013 November-December;51(6):638-643.

[Hemophilia]

[Article in Spanish]
Lauro Fabián Amador-Medina  1 , Angel Gabriel Vargas-Ruiz
Affiliations
  • PMID: 24290015
Free article

[Hemophilia]

[Article in Spanish]
Lauro Fabián Amador-Medina et al. Rev Med Inst Mex Seguro Soc. 2013 November-December.
Free article

Abstract
in English, Spanish

Hemophilia is a genetic disease in which the clinical manifestation is mainly the presence of hemorrhage. There are two known types of hemophilia: hemophilia A and B, which have a deficiency of factor VIII or IX clotting, respectively. The intensity of bleeding in hemophilia depends on the plasma levels of factor VIII or IX and has traditionally been classified as mild (> 5 % activity), moderate (1-5 % activity) and severe (< 1 % activity). In laboratory tests, isolated prolongation of activated partial thromboplastin time (aPTT) can be found, but it is necessary to determine the plasma levels of factor VIII or IX to establish the diagnosis of hemophilia A or B. The treating of this disease involves replacing exogenous factor VIII or IX concentrates. Gene therapy could be an option in the future to achieve the cure of the disease. Complications of hemophilia are the risk of transfusion-associated infections, pseudotumor hemophilic, hemophilic arthropathy and the presence of serum inhibitors.

La hemofilia es una enfermedad genética en la que las manifestaciones clínicas consisten básicamente en la presencia de hemorragias. Se conocen dos tipos de hemofilia: A y B, las cuales se originan por la deficiencia de los factores VIII y IX de la coagulación, respectivamente. La intensidad de la hemorragia en la hemofilia depende de los niveles plasmáticos del factor VIII o IX y tradicionalmente se ha clasificado como leve (> 5 % de actividad), moderada (de 1 a 5 % de actividad) y severa (< 1 % de actividad). En las pruebas se identifica prolongación aislada del tiempo de tromboplastina parcial activada (TTPa), pero es necesario determinar los niveles plasmáticos del factor VIII o IX para establecer el diagnóstico de hemofilia A o B. El tratamiento de esta enfermedad consiste en la reposición exógena con concentrados del factor VIII o IX. En el futuro, la terapia genética podría ser una opción para lograr la curación de la enfermedad. Las complicaciones de la hemofilia son el riesgo de infecciones relacionadas con las transfusiones, el pseudotumor hemofílico, la artropatía hemofílica y la presencia de inhibidores.

Keywords: factor IX; factor IX; factor VIII; hemofilia; hemophilia; hemorragia; hemorrhage.

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