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Talasemia - Symptom

Nombres alternativos

Anemia mediterránea; Anemia de Cooley; Talasemia beta; Talasemia alfa

Síntomas:

La forma más severa de talasemia alfa mayor causa mortinato (muerte del bebé nonato durante el parto o en las últimas etapas del embarazo).

Los niños nacidos con talasemia mayor (anemia de Cooley) son normales en el nacimiento, pero desarrollan anemia severa durante el primer año de vida.

Otros síntomas pueden abarcar:

Las personas con las formas menores de talasemia alfa y beta tienen glóbulos rojos pequeños (los cuales se identifican examinando sus glóbulos rojos bajo un microscopio), pero no presentan ningún síntoma.

Signos y exámenes:

Un examen físico puede revelar la presencia de un bazo inflamado (agrandado).

Se tomará una muestra de sangre y se enviará al laboratorio para su análisis.

  • Los glóbulos rojos aparecerán pequeños y de forma anormal al examinarlos bajo un microscopio
  • Un hemograma o conteo sanguíneo completo (CSC) muestra anemia
  • Un examen llamado electroforesis hemoglobínica muestra la presencia de una forma anormal de hemoglobina

Un examen llamado análisis mutacional puede ayudar a detectar talasemia alfa que no se puede ver con la electroforesis hemoglobínica.

  • Reviewed last on: 1/31/2010
  • Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Giardina PJ, Forget BG. Thalassemia syndromes. In: Hoffman R, Benz EJ, Shattil SS, et al., eds. Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2008:chap 41.

DeBaun MR, Vichinsky E. Hemoglobinopathies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 462.

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