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Genetic and Rare Diseases Information Center (GARD)

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Sickle beta thalassemia


Other Names for this Disease
  • Hb S beta-thalassemia
  • Hemoglobin sickle-beta thalassemia
  • Sickle cell anemia
  • Sickle cell disease
Related Diseases
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Symptoms

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What are the signs and symptoms of sickle beta thalassemia?

Signs and symptoms of sickle beta thalassemia may include:[1][2]
  • Anemia (low levels of red blood cells)
  • Repeated infections
  • Frequent episodes of pain
  • Pulmonary hypertension
  • Acute chest syndrome (pneumonia-like condition due to entrapment of infection or sickle cells in the lungs)
  • Stroke
  • Enlarged spleen and/or liver
  • Heart murmurs
  • Delayed puberty
  • Slowed growth
  • Jaundice

The symptoms of sickle beta thalassemia vary in severity based on the amount of normal hemoglobin made. Affected people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). Although these two forms share many of the same features, people with sickle beta zero thalassemia are generally more severely affected than those with sickle beta plus thalassemia. For example, people with sickle beta plus thalassemia generally experience less frequent episodes of pain and are less likely to develop stroke, pulmonary hypertension and acute chest syndrome.[1]
Last updated: 12/21/2014

References
  1. Elliott P Vichinsky, MD. Variant sickle cell syndromes. UpToDate. March 2014;
  2. Sickle Cell Disease. NORD. April 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/25/viewAbstract.
  3. Joseph E Maakaron, MD. Sickle Cell Anemia. Medscape Reference. September 2014; http://emedicine.medscape.com/article/205926-overview.


Other Names for this Disease
  • Hb S beta-thalassemia
  • Hemoglobin sickle-beta thalassemia
  • Sickle cell anemia
  • Sickle cell disease
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.