Pearson syndrome

Patients with this syndrome (Figures 56.2-56.5) have severe transfusion-dependent anemia [1]. Onset is in the early weeks of life, and pallor may be noted in the neonatal period. Anemia is macrocytic and aregenerative. Reticulocyte percentages are low. Hemoglobin F levels may be increased, and the free-erythrocyte protoporphyrin level may be increased [1].