Beta Thalassemia: Symptoms & Signs

Medically Reviewed on 2/12/2021

Beta thalassemia is an inherited blood disorders in which there is decreased production of normal adult hemoglobin (Hb A). Beta thalassemia is classified into two types depending on its severity: thalassemia major (also known as Cooley's anemia) and thalassemia major.

People with thalassemia minor have only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). People with thalassemia minor have (at most) mild anemia. The symptoms associated with thalassemia major appear within the first 2 years of life. Symptoms and signs include life-threatening anemia that causes failure to thrive (reduced growth rate and weight gain). Other symptoms and signs can include

Cause of beta thalassemia

A mutation in the beta-chain hemoglobin gene that is inherited in an autosomal recessive manner causes beta thalassemia.

Other beta thalassemia symptoms and signs

  • Enlarged Spleen, Liver, and Heart
  • Failure to Thrive
  • Mild to Life-Threatening Anemia
  • Misshapen Bones
  • Yellowing of the Skin and Whites of the Eyes (Jaundice)

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References
Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.