Hemofilia B o enfermedad de Christmas

  • María A. Acosta-Aragón Universidad del Cauca
  • Angélica R. Álvarez-Mina IPS Vivir, EPS Sura
  • Julián C. Velásquez-Paz Hospital Universitario San José de Popayán, Universidad del Cauca
  • Jennifer C. Vizcaíno-Carruyo Editora Médica Colombiana
Palabras clave: hemofilia B, enfermedad de Christmas, factor IX, tiempo de tromboplastina parcial, cromosoma X.

Resumen

La hemofilia B o enfermedad de Christmas se diferenció por primera vez de la hemofilia A en 1947. Su forma clásica consiste en un trastorno hereditario de la coagulación causado por mutaciones en el gen F9, que codifica para el factor IX de la coagulación. Su herencia está ligada al cromosoma X; las mujeres son portadoras, pero se manifiesta clínicamente en hombres, aunque se han descrito casos de mujeres portadoras sintomáticas. El factor IX activado es una proteína dependiente de vitamina K, sintetizada en el hígado, que forma parte del complejo tenasa, cuya función es formar la mayor cantidad de trombina en el nuevo modelo de la coagulación basado en células. De acuerdo a la actividad del factor IX, su deficiencia se puede clasificar en leve (5% a 40%), moderada (1% a 5%), o severa (<1%). Su diagnóstico se realiza con la presencia de un TPT alargado que corrige con plasma normal y con la determinación del nivel funcional del factor IX, y se confirma con el estudio molecular que demuestra la mutación en el gen F9. Su diagnóstico diferencial incluye otras patologías como la hemofilia A. El tratamiento con factor
IX recombinante es el más utilizado en la actualidad, pero se vienen desarrollando nuevas terapias con virus adeno-asociados recombinantes que prometen mejorar la calidad de vida para algunos pacientes afectados. La profilaxis juega un papel fundamental, en particular en los casos de enfermedad moderada y severa.

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Biografía del autor/a

María A. Acosta-Aragón, Universidad del Cauca

Médica, MSc en Biología-Genética Clínica, PhD en Genética de Poblaciones Humanas y Genética Forense. Profesora Titular, Departamento de Pediatría, Facultad de Ciencias de la Salud, Universidad del Cauca. Popayán, Colombia.

Angélica R. Álvarez-Mina, IPS Vivir, EPS Sura

Médica General, Consulta Externa, IPS Vivir, EPS Sura. Cali, Colombia.

Julián C. Velásquez-Paz, Hospital Universitario San José de Popayán, Universidad del Cauca

Médico General. Profesor de Semiología, Hospital Universitario San José de Popayán, Universidad del Cauca. Popayán, Colombia.

Jennifer C. Vizcaíno-Carruyo, Editora Médica Colombiana

Médica, Especialista en Hematología. Asistente Científica, Editora Médica Colombiana S.A. Medellín, Colombia.

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Cómo citar
1.
Acosta-Aragón MA, Álvarez-Mina AR, Velásquez-Paz JC, Vizcaíno-Carruyo JC. Hemofilia B o enfermedad de Christmas. Med. Lab. [Internet]. 29 de septiembre de 2020 [citado 30 de octubre de 2020];24(4):273-89. Disponible en: https://medicinaylaboratorio.com/index.php/myl/article/view/336
Publicado
2020-09-29
Sección
Artículos de revisión