Congenital dyserythropoietic anemia type III

Background and Objectives. Congenital dyserythropoietic anemia type III (CD A-III) is a group of very rare disorders characterized by similar bone marr ow morphology. The clinical picture is characterized by hemolytic anemia an d dramatic bone marrow changes dominated by active erythropoiesis with big multinucleated erythroblasts. The aim of this review is to describe the cli nical manifestations, laboratory findings, and management of CDA-III. Evidence and Information sources. The present review critically examines re levant articles and abstracts published in journals covered by the Science Citation Index and Medline. The authors have performed several studies on C DA-III. State of Art and Perspectives. The clinical and laboratory manifestations o f CDA-III indicate that the gene responsible for it, which has been mapped to chromosome 15q22, is expressed not only in erythroblasts during mitosis but also in B-cells, and in cells of the retina. Preliminary results indica te genetic and phenotypic similarities between a Swedish and an American fa mily, both with an autosomally dominant inherited form of CDA-III. It is po ssible that the genetic lesion is identical in these families, but the diff erent phenotypes and modes of inheritance reported among some other cases o f CDA-III are probably the results of other genetic lesions. At present, th e function of the gene responsible for the Swedish (Vasterbotten) variant o f CDA-III (CDAN3) is unknown and it is an important goat to characterize an d clone this gene in order to study its function. (C) 2000, Ferrata Storti Foundation.