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Hematology

Beta (β) thalassemia

Beta (β) thalassemia

Beta (β) thalassemia

  • Facts:
    Microcytic anemia non-responsive to iron supplementation

    Point mutation in one or both copies of beta hemoglobin gene

    Reduced hemoglobin synthesis , leading to hypochromic microcytic anemia
  • Notes:
    β thalassemia minor (defect in one gene)

    Modest anemia, hematocrit between 28 – 40 %

    MCV between 55 fL and 75 fL

    β thalassemia major (defect in both genes)

    Severe anemia

    Transfusions at an early age

  • Associated With:
    People of Mediterranean origin
  • Differential Diagnosis:
    Iron deficiency anemia ( MCV > 20 )

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