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Thalassemia: Diagnosis

Diagnostic methods for β-thalassemia major include (Figure):

  • Genetic studies and prenatal diagnosis
  • Clinical history and physical examination
  • Complete blood count (CBC)
  • Blood films
  • Hb electrophoresis
  • Imaging studies
  • Differential diagnosis

Figure. β-Thalassemia major diagnostic algorithm1,2

Patient presents with pallor, severe anemia, jaundice, and hepatosplenomegaly


Recommended evaluations

  • History and physical examination
  • Complete blood count and platelets
  • Examination of peripheral blood smear

Diagnosis of thalassemia major based on Hb evaluation

  • Serum Hb (< 7 g/dL)
  • Hb electrophoresis
Read about prenatal diagnosis of thalassemia >

References

  1. Galanello R, Origa R. Orphanet J Rare Dis. 2010;5:11.
  2. Rund D, Rachmilewitz E. N Engl J Med. 2005;353:1135-46.

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