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
