Hematology
Beta (β) thalassemia
Beta (β) thalassemia
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- 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 fLβ thalassemia major (defect in both genes)
Severe anemia
Transfusions at an early age -
- Associated With:
- People of Mediterranean origin
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- Differential Diagnosis:
- Iron deficiency anemia ( MCV > 20 )