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Pathology - β-thalassemia major
β-thalassemia major is established by the lack of HbA 1 (composed of α-2 and β-2) on electrophoresis.
In contrast to heterozygous β-thalassemia minor, the patient is homozygous for deletion of the β-hemoglobin gene.
Therefore, absence of β-chain synthesis enhances production of HbA 2 (α-2, δ-2) and HbF (α-2, γ-2). The anemia is a result of inefficient erythropoiesis; nevertheless, breakdown products of excess α-chains also results in intramedullary destruction of RBC precursors and peripheral hemolysis. The overall loss in hemoglobin results in a microcytic, hypochromic anemia. Resulting tissue hypoxia drives EPO production, which causes marrow growth and bone deformity, as evidenced by the hypertrophied mandible of this infant. Increased iron absorption from marrow expansion coupled with transfusion-dependent survival often results in heart failure owing to hemochromatosis.
Patients with β-thalassemia minor are largely asymptomatic unless rarely during pregnancy.
β-thalassemia major is established by the lack of HbA 1 (composed of α-2 and β-2) on electrophoresis.
In contrast to heterozygous β-thalassemia minor, the patient is homozygous for deletion of the β-hemoglobin gene.
Therefore, absence of β-chain synthesis enhances production of HbA 2 (α-2, δ-2) and HbF (α-2, γ-2). The anemia is a result of inefficient erythropoiesis; nevertheless, breakdown products of excess α-chains also results in intramedullary destruction of RBC precursors and peripheral hemolysis. The overall loss in hemoglobin results in a microcytic, hypochromic anemia. Resulting tissue hypoxia drives EPO production, which causes marrow growth and bone deformity, as evidenced by the hypertrophied mandible of this infant. Increased iron absorption from marrow expansion coupled with transfusion-dependent survival often results in heart failure owing to hemochromatosis.
Patients with β-thalassemia minor are largely asymptomatic unless rarely during pregnancy.
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