Pathophysiology of thalassemia.

The clinical manifestations in homozygous thalassemia may be attributed to the defect in hemoglobin synthesis (Figure 16). It is best typified by beta thalassemia, where excess alpha chains accumulate to form intracytoplasmic erythrocytic inclusions. This leads to anemia, bone marrow hyperplasia, osteoporosis, hemosiderosis, and organ failure.