Anemias raras y fallos medulares hereditarios

Autores/as

DOI:

https://doi.org/10.3989/arbor.2018.789n3005

Palabras clave:

Anemias raras, anemia ferropénica, talasemia, eritrocitos, hemoglobina, anemia de Fanconi, disqueratosis congénita, anemia de Diamond-Blackfan, síndrome de Shwachman-Diamond

Resumen


Las anemias raras y los fallos medulares hereditarios son enfermedades hematológicas caracterizadas, respectivamente, por una disminución de la concentración de hemoglobina o por diversos grados de defectos en la producción de células hematopoyéticas que conducen desde una citopenia de un solo linaje hasta una de múltiples linajes. Son enfermedades raras y difíciles de diagnosticar debido a la heterogeneidad clínica, citológica y genética. En este artículo abordaremos en primer lugar el diagnóstico de las anemias raras y sus causas principales: fallos medulares, defectos del hematíe y trastornos del metabolismo de los factores de maduración eritrocitario. Seguidamente introduciremos los fallos medulares hereditarios y su patología asociada, como son las malformaciones congénitas y la predisposición tumoral, haciendo especial hincapié en los más frecuentes: la anemia de Fanconi, la disqueratosis congénitca, la anemia de Diamond-Blackfan y el síndrome de Shwachman-Diamond.

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Publicado

2018-09-30

Cómo citar

Vives Corrons, J. L., Mañú Pereira, M. del M., Trujillo, J. P., Surrallés, J., & Sevilla, J. (2018). Anemias raras y fallos medulares hereditarios. Arbor, 194(789), a463. https://doi.org/10.3989/arbor.2018.789n3005

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