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Medicina & Laboratorio

2023, Número 4

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Medicina & Laboratorio 2023; 27 (4)


Hemocromatosis hereditaria y la importancia de las mutaciones en el gen HFE

Obelleiro-Campos AX, Ribera-Pérez M, Malagón-Corominas C, Aharchi-Amghar J, Claver-Belver N

Idioma: Español
Referencias bibliográficas: 57
Paginas: 383-394
Archivo PDF: 117.34 Kb.


RESUMEN

La hemocromatosis hereditaria (HH) es un trastorno genético recesivo del metabolismo del hierro, que causa la acumulación de hierro en los órganos y tejidos. La HH está relacionada con mutaciones en el gen HFE, la C282Y más frecuente, y secundariamente las mutaciones H63D y S65C. Estas mutaciones impiden la ubicación correcta de la proteína HFE en la membrana celular, resultando en un aumento en la absorción intestinal y la acumulación de hierro intracelular. A pesar de que la HH es un trastorno genético común en caucásicos, la penetrancia de la enfermedad es relativamente baja, la que resulta en una gran variabilidad en los fenotipos clínicos y bioquímicos. Los exámenes bioquímicos son la primera herramienta para abordar el diagnóstico de estos pacientes, principalmente la saturación de la transferrina y la ferritina sérica, y su diagnóstico genético se realiza mediante la identificación de mutaciones en el gen HFE o en otros no-HFE. De igual forma, es crucial evaluar periódicamente el metabolismo del hierro en individuos con antecedentes familiares de la enfermedad o en pacientes que presentan aumentos inexplicables de la ferritina o del hierro sérico, ya que una identificación precoz mejora considerablemente el pronóstico de la HH, permitiendo un manejo terapéutico acorde al genotipo HFE o no-HFE, y grado de expresión de la enfermedad.


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