Thalassemia history and symptoms

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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 history and symptoms of thalassemia are related to the underlying defective hemoglobin production and decreased delivery of oxygen to peripheral tissues. Family history is the most important aspect of a patient's medical history when assessing for thalassemia, since this is a monogenic disorder with Mendelian autosomal recessive inheritance. Typical symptoms include fatigue, shortness of breath, bone deformities (for beta-thalassemia major), jaundice, scleral icterus.

History

Patients with thalassemia usually have a family history of thalassemia. The defective alpha- or beta-globin chain can be inherited from a patient's mother or father. In the case of severe thalassemia, symptoms begin early in life.

Symptoms

  • Fatigue:[1] This is the most common symptom of thalassemia. Fatigue is due to impaired oxygen delivery to peripheral tissues. Fatigue is commonly the first presenting symptoms and can occur early in childhood. Typically, fatigue is the symptoms that prompts additional workup that leads to a diagnosis of thalassemia.
  • Bone deformities in the face:[2] Bone deformities can occur in severe forms of thalassemia, such as beta-thalassemia major, or Cooley's anemia. Bone deformities are to due to the occurrence of hematopoiesis in bone marrow of bones other than the iliac crest, long bones, or sterum, where most of the bone marrow is normally located. Bone deformities in the face can occur in children at an early age.
  • Shortness of breath:[1] This is a common symptom of thalassemia. The etiology is due to impaired oxygen carrying capacity of defective globin chains, with reduced delivery of oxygen to peripheral tissues.
  • Growth failure: Growth failure is a less common symptom for severe thalassemias. Growth failure is due to the increased cardiac workload (increased stroke volume and heart rate), which is a compensatory response to the impaired oxygen carrying capacity of defective globin chains. In some cases, growth failure is detected on routine well-baby or well-child visits with a pediatrician. Growth retardation prompts the workup that can lead to the diagnosis of thalassemia.
  • Yellow skin (jaundice):[1] In some cases, patients can notice yellow skin, which is due to hemolysis from defective globin chains. Indirect, or unconjugated, bilirubin accumulates and deposits in the skin and mucus membranes.
  • Yellow eyes (scleral icterus): This is also due to elevated indirect, or unconjugated, bilirubin, which in turn is due to hemolysis from defective globin chains. This is a relatively rare symptom of thalassemia.

References

  1. 1.0 1.1 1.2 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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