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Enfermedad de la hemoglobina C

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Hemoglobina clínica C

Definición

La enfermedad de la hemoglobina C es un trastorno sanguíneo que se transmite de padres a hijos. Lleva a un tipo de anemia que ocurre cuando los glóbulos rojos se descomponen antes de lo normal.

Causas

La hemoglobina C es un tipo anormal de hemoglobina, la proteína en los glóbulos rojos que transporta el oxígeno. Es un tipo de hemoglobinopatía. La enfermedad es ocasionada por un problema con un gen llamado beta globina.

La enfermedad ocurre con mayor frecuencia en personas de raza negra. Usted es más propenso a padecerla si alguien en la familia la ha tenido.

Síntomas

La mayoría de las personas no presentan síntomas. En algunos casos, se puede presentar ictericia. Algunas personas pueden presentar cálculos biliares que requieren tratamiento.

Pruebas y exámenes

El examen físico puede mostrar una esplenomegalia.

Los exámenes que se pueden hacer incluyen:

Tratamiento

En la mayoría de los casos, no se necesita tratamiento. Los suplementos de ácido fólico pueden ayudar a su cuerpo a producir glóbulos rojos normales y mejorar los síntomas de la anemia.

Expectativas (pronóstico)

Las personas con enfermedad de la hemoglobina C pueden esperar llevar una vida normal.

Posibles complicaciones

Las complicaciones pueden incluir:

Anemia
Enfermedad de la vesícula biliar
Agrandamiento del bazo

Cuándo contactar a un profesional médico

Consulte con su proveedor de atención médica si tiene síntomas de la enfermedad de la hemoglobina C.

Prevención

Es posible que necesite buscar asesoría genética si está en alto riesgo de padecer la enfermedad y está contemplando la posibilidad de tener un hijo.

Referencias

Howard J. Sickle cell disease and other hemoglobinopathies. In: Goldman L, Cooney KA, eds. Goldman-Cecil Medicine. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 149.

Smith-Whitley K, Kwiatkowski JL. Hemoglobinopathies. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 511.

So JCC, Ma ESK. Hemoglobin and hemoglobinopathies. In: Rifai N, Chiu RWK, Young I, Burnham CAD, Wittwer CT, eds. Tietz Textbook of Laboratory Medicine. 7th ed. St Louis, MO: Elsevier; 2023:chap 77.

Wilson CS, Vergara-Lluri ME, Brynes RK. Evaluation of anemia, leukopenia, and thrombocytopenia. In: Jaffe ES, Arber DA, Campo E, Harris NL, Quintanilla-Martinez L, eds. Hematopathology. 2nd ed. Philadelphia, PA: Elsevier; 2017:chap 11.

Programe una cita

Actualizado : 3/31/2024

Versión en inglés revisada por : Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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