Thalassemia physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]

Overview

The physical exam findings of thalassemia relate to compensatory organ or tissue responses to decreased oxygen delivery. Physical exam features typically include tachypnea, jaundice, scleral icterus (if hemolysis is present), splenomegaly, and bony enlargement. In most cases of mild thalassemias, there are no physical exam abnormalities. In severe thalassemias, physical exam findings can be quite remarkable and unique to thalassemia.

Physical Examination

  • Pallor: Pallor is a common sign of low hemoglobin. Pallor can occur in the skin or mucosal membranes.
  • Tachypnea: Tachypnea, or elevated respiratory rate, is due to impaired oxygen delivery to peripheral tissues. A high respiratory rate is a compensatory mechanism that attempts to ensure adequate delivery of oxygen to other tissues.
  • Jaundice::[1] Jaundice, or yellowing of skin, is due to hemolysis from defective globin chain production. Hemolysis results in the release of indirect, or unconjugated bilirubin, into the circulation, and bilirubin deposits in the skin.
  • Scleral icterus:[1] Scleral icterus is due to hemolysis from defective globin chain production. Hemolysis results in the release of indirect, or unconjugated bilirubin, into the circulation, and bilirubin deposits in the eyes. The sclera is normally a thick white layer of connective tissue, and this can become yellow if there is significant hemolysis.
  • Splenomegaly: Splenomegaly, or enlarged spleen, is due to extravascular hemolysis. In some cases, the spleen can become painful to palpation.
  • Bony enlargement and facial changes:[2] The jaw bone is a common site of bony enlargement. This occurs when hematopoiesis, or blood cell production, takes place in bones other than the iliac crest, long bones, and sternum.

References

  1. 1.0 1.1 Taher AT, Viprakasit V, Musallam KM, Cappellini MD (2013). "Treating iron overload in patients with non-transfusion-dependent thalassemia.". Am J Hematol. 88 (5): 409–15. PMC 3652024Freely accessible. PMID 23475638. doi:10.1002/ajh.23405. 
  2. Galanello R, Origa R (2010). "Beta-thalassemia.". Orphanet J Rare Dis. 5: 11. PMC 2893117Freely accessible. PMID 20492708. doi:10.1186/1750-1172-5-11. 



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