The congenital dyserythropoietic anaemias

Abstract

Congenital dyserythropoietic anaemias (CDA) are a category of rare genetic diseases that affect erythropoiesis. Dyserythropoiesis is associated with abnormal erythroblasts and leads to altered red cells, the amount of which is insufficient. There are three main, well-defined CDAs, CDA I, II and III. Their characterization is based on a careful examination of the bone marrow under light and electron microscopes. In addition, a number of rare or unique forms of dyserythropoiesis have been reported. At least with respect to CDA I to III, the clinical evaluation is reaching an ever increasing refinement: age of discovery, determinants of iron overload and/or biliary complications. Over the past few years, a more promising breakthrough has been the localization of the genes responsible for CDA I, II and III, that is, 15q15.1-q15.3, 20q11.2 and 15q21-q25, respectively. Epidemiological studies have now become possible. The identification of the genes is pending.