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Thalassemia - Symptom

Alternative Names

Mediterranean anemia; Cooley's anemia; Beta thalassemia; Alpha thalassemia

Symptoms:

The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth of 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:

Persons with the minors form of alpha and beta thalassemia have small red blood cells (that can be seen under a microscope), but no symptoms.

Signs and 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 abnormal hemoglobin.

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

  • Reviewed last on: 1/12/2009
  • Todd Gersten, M.D., Hematology/Oncology, Palm Beach Cancer Institute,West Palm Beach, FL. Review provided by VeriMed Healthcare Network. Also reviewed by Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital; and David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Forget BG, Cohen AR. Thalassemia syndromes. In: Hoffman R, Benz EJ, Shattil SS, et al, eds. Hematology: Basic Principles and Practice. 4th ed. Philadelphia, Pa: Elsevier Churchill Livingstone; 2005:chap 35.

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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