Unbalanced Globin Chain Synthesis in Congenital Dyserythropoietic Anemia

Hematologic evaluation of a 5-yr-old girl with lifelong anemia demonstrated the characteristic findings of congenital dyserythropoietic anemia (CDA) type II. Globin chain synthesis was studied in vitro by measuring the incorporation of L-leucine-¹⁴C into globin by peripheral blood and bone marrow erythroid cells. In cells from the child and from both of her parents an abnormal balance between the synthesis of the α and non-α globin components of hemoglobin was observed, the α chains being synthesized in excess. Neither parent demonstrated microcytosis, hypochromia, or other findings suggestive of β-thalassemia trait.