Dyserythropoiesis and congenital dyserythropoietic anaemias (CDA)

Overview

The term dyserythropoiesis was originally used in the description of a group of previouslyunrecognisedcongenital anaemias characterized by pathological alterations of the morphology of erythroblasts.Onlya minority of the erythroblasts in normal bone marrow shows dysplastic features such as basophilicstippling, vacuolation of the cytoplasm, irregular nuclei, intercytoplasmic bridges of erythroblasts,Howell-Jolly bodies. Binuclearity, involving late erythroblasts in the bone marrow can be foundoccasionally only, multinuclearity is never present. Dyserythropoiesis is considered to be present whenthe proportion of erythroblasts showing dysplastic features is greater than normal or when featuresnot seen in normal bone marrow such as megaloblastoid changes, internuclear chromatin bridges orother anomalies are present. There are several congenital and acquired disorders in which there isdyserythropoiesis present. Congenital dyserythropoietic anaemias (CDA) are characterized by morphologicalalterations of erythroblasts, ineffective erythropoiesis and in some increased tendency toiron overload. Heimpel and Wendt classified CDA patients into one of three types designated types I, IIand III. Subsequently it has become apparent that there are CDAs that did not fit the classical threetypes. They have been denominated CDA-IV or CDA variants. The paper summarizes the up to dayknowledge of dyserythropoiesis and of congenital dyserythropoietic anaemias especially.

Key words:
dyserytropoéza, CDA (I – III)