Distinctions Between Idiopathic Ineffective Erythropoiesis and di Guglielmo’s Disease: Clinical and Biochemical Differences

While idiopathic ineffective erythropoiesis (IIE) and di Guglielmo’s disease (DD) are both characterized by intramedullary hemolysis, they can be distinguished clinically and biochemically. Twelve patients with IIE had normal platelet counts and morphologically normal myelopoiesis. Three patients with DD presented with pancytopenia and marrow myeloid immaturity. Conversion to acute myeloid leukemia occurred in the three DD patients but did not occur in the 12 IIE patients, who had a mean duration of anemia of 10.7 yr. Hemoglobin synthesis was well preserved in two DD patients, while six IIE patients had significant defects of both heme and globin synthesis. Defective heme synthesis in IIE could not be attributed to a defect of the heme synthetic enzyme δ-aminolevulinic acid (ALA) synthetase. The nature of the heme and globin synthesis defects in IIE remains unclear but may reflect a more fundamental abnormality of cell maturation or cell division in this disorder.