Transfusion-dependent congenital dyserythropoietic anaemia with intraerythroblastic inclusionsof a non-globin protein

The congenital forms of dyserythropoiesis comprise a group of hereditary disorders characterized by ineffective erythropoiesis as the predominant mechanism of anaemia and morphologically abnormal erythroblasts. Up to now three major forms and four variants have been described. Group VII is characterized by dyserythropoiesis with intraerythroblastic precipitation of a non-globin protein. Here we described a case of dyserythropoietic anaemia presenting neonatally and requiring regular blood transfusions. Optical and electronic microscopy studies confirmed that this case was very similar to those in two previously reported transfusion-dependent patients with an unusual type of congenital dyserythropoietic anaemia.