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

The congenital forms of dyserythropoiesis comprise a group of hereditary di sorders characterized by ineffective erythropoiesis as the predominant mech anism of anaemia and morphologically abnormal erythroblasts. Up to now thre e major forms and four variants have been described. Group VII is character ized by dyserythropoiesis with intraerythroblastic precipitation of a non-g lobin protein. Here we described a case of dyserythropoietic anaemia presen ting neonatally and requiring regular blood transfusions. Optical and elect ronic 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.