Unclassified type of congenital dyserythropoietic anaemia (CDA) with prominent peripheral erythroblastosis.
Two unrelated cases of congenital dyserythropoietic anaemia (CDA) are described. They show striking similarities which could not be attributed to one of the well-known types of CDA or any other congenital disease of the erythroid system. Both patients were followed for many years before and after splenectomy. There was a long-lasting, prominent post-splenectomy erythroblastosis, suggesting impairment of red cell denucleation. The type of heredity is unknown, and the enzymatic or molecular basis of the changes observed is not understood.
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000473:pathology*; D000745:Anemia, Hemolytic, Congenital / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D004900:Erythroblasts / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D013156:Splenectomy