Erythrogenesis imperfecta

Abstract

Five cases of what has been called congenital hypoplastic anaemia are reported, and the history of one is described in detail. The anaemia is characterized by failure of blood regeneration and reticulocytosis in spite of the presence of some erythroblasts in the marrow. Attention is drawn to the similarity of the facies of the cases. The results of marrow cultures are presented which indicate that red cell maturation fails at the late normoblast stage. The aetiology and lack of response to all forms of treatment except blood transfusion are discussed. The term erythrogenesis imperfecta is proposed for the condition, as being less misleading than the other descriptive titles.