Thalassemia: Symptoms & Signs, Diagnosis & Tests

Symptoms & Signs

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).

Children born with thalessemia major (Cooley’s anemia) are normal at birth, but develop severe anemia during the first year of life.

Other symptoms can include:

  • Bone deformities in the face
  • Fatigue
  • Growth failure
  • Shortness of breath
  • Yellow skin (jaundice)

Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.

Diagnosis & Tests

A physical exam may reveal a swollen (enlarged) spleen.

A blood sample will be taken and sent to a laboratory for examination.

  • Red blood cells will appear small and abnormally shaped when looked at under a microscope.
  • A complete blood count (CBC) reveals anemia.
  • A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.

A test called mutational analysis can help detect alpha thalassemia that cannot be seen with hemoglobin electrophoresis.

Pictures & Images

Thalassemia major


Review Date : 1/31/2010
Reviewed By : 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.

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