No response to recombinant human erythropoietin therapy in patients with congenital dyserythropoietic anemia type I

Congenital dyserythropoietic anemia (CDA) type I is a rare inherited bone m arrow disorder characterized by moderate to severe macrocytic anemia with p athognomonic cytopathology of nucleated red blood cells. Previous studies h ave suggested that serum erythropoietin levels in affected patients are low er than expected for the degree of anemia. An earlier study demonstrated a substantial increase in the number of CFU-E in CDA type I pattern on additi on of exogenous erythropoietin. The present study reports an the response t o recombinant human erythropoietin in 8 patients with CDA type I. Eighteen weeks of treatment, starting at 300 IU/kg twice a week and gradually increa sing to 500 IU/kg three limes a week, did not have a substantial effect on the mean hemoglobin value. These results indicate that recombinant human er ythropoietin (rHuEpo) is nor beneficial to patients with CDA type I and tha t the relatively low levels of serum erythropoietin probably play no major role in the pathogenesis of the disease.