Congenital bone marrow failure involving the red blood cells

Abstract

Aplastic anaemia and red cell aplasias may be congenital or acquired. It has been usual to consider the acquired and inherited types as quite distinct but it is becoming evident as the genetic bases of the inherited diseases become better understood that some cases labelled acquired may be late onset genetic disorders. Furthermore, knowledge of the pathophysiology of the inherited disorders may help understand the evolution of acquired forms, particularly the development of malignant disease. The other disorders which display phenotypic overlap are Fanconi Anaemia (FA), dyskeratosis congenital (DC) and Diamond Blackfan Anaemia (DBA)