Thalassemia Symptoms

November 22, 2024

This page was reviewed under our medical and editorial policy by YunZu (Michele) Wang, M.D., assistant professor, Department of Pediatrics, City of Hope® Cancer Center Duarte

The symptoms of thalassemia can be mild, moderate or severe, depending on the type of thalassemia. People with mild thalassemia may never have symptoms, but signs of the disorder may show up on certain blood tests.

Others with mild or moderate thalassemia may develop issues such as anemia during childhood. Severe cases of thalassemia may cause more serious symptoms that affect how the body grows and functions.

Alpha Thalassemia Symptoms

The symptoms of alpha thalassemia can develop at any age. How serious these symptoms are depends on the subtype of alpha thalassemia.

Alpha thalassemia minima symptoms: Most people with this subtype do not experience symptoms. These are also referred to as alpha thalassemia carriers.

Alpha thalassemia minor symptoms: Symptoms are usually mild and may include signs of anemia such as fatigue, dizziness, cramps or shortness of breath.

Hemoglobin H disease symptoms: People with hemoglobin H disease may experience more severe anemia, as well as more serious issues such as bone deformities, problems with bone development or jaundice.

Hydrops fetalis with hemoglobin Bart’s symptoms: Also called alpha thalassemia major, this condition usually causes stillbirth. Infants who survive may experience all the symptoms mentioned above.

Beta Thalassemia Symptoms

Those with beta thalassemia may experience no symptoms, if they have a less severe subtype of the condition. However, most people born with beta thalassemia major begin to show symptoms by age 2 and before adulthood.

Beta thalassemia minor symptoms: Those with beta thalassemia minor typically have no symptoms, or if they do, the symptoms tend to be mild and related to anemia, including fatigue, shortness of breath or dizziness. These are also referred to as beta thalassemia carriers.

Beta thalassemia major (Cooley’s anemia) symptoms: People with beta thalassemia major can exhibit more serious symptoms. These include more severe anemia, delayed puberty, problems with the bones in the skull and an enlarged spleen.

References
  • Genetic and Rare Diseases Information Center (2024, September). Alpha-thalassemia. 
    https://rarediseases.info.nih.gov/diseases/621/alpha-thalassemia

  • Muncie, H.L. and Campbell, J.S., American Family Physician (2009). Alpha and beta thalassemia. 
    https://www.aafp.org/pubs/afp/issues/2009/0815/p339.html

  • Centers for Disease Control and Prevention (2024, May 15). About thalassemia. 
    https://www.cdc.gov/thalassemia/about/index.html

  • National Library of Medicine, MedlinePlus (2022, December 2). Alpha thalassemia. 
    https://medlineplus.gov/genetics/condition/alpha-thalassemia/

  • National Library of Medicine, MedlinePlus (2023, May 1). Beta thalassemia. 
    https://medlineplus.gov/genetics/condition/beta-thalassemia/