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

Abstract

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.

Protein Quality Control During Erythropoiesis and Hemoglobin Synthesis

“…(118, 119) Similar appearing aggregates containing globin and non-globin proteins have also been reported in patients with congenital dyserythropoietic anemia. (115, 120, 121) Together, these studies indicate that pathologic erythroid precursors sequester unstable globin chains and possibly other abnormal proteins into aggresome-like structures resembling those observed in neurodegenerative and other protein aggregation disorders.…”

Advances in the understanding of the congenital dyserythropoietic anaemias

“…The three patients placed in this group had severe transfusion‐dependent anaemia since birth, marked normoblastic erythroid hyperplasia, non‐specific dysplastic changes, especially markedly abnormal nuclear shapes, in many erythroblasts and intraerythroblastic inclusions resembling precipitated α ‐globin chains (Fig 1F). The incusions do not react with monoclonal antibodies against α ‐ and β ‐globin chains (Wickramasinghe et al , 1996a; Iolascon et al , 2000b). The diagnosis requires the exclusion of β ‐thalassaemia trait in the parents.…”