Association of Type II Congenital Dyserythropoietic Anaemia and von Willebrand's Disease

Abstract

Summary. In a patient with a history of anaemia, jaundice and splenomegaly, the bone marrow showed erythropoietic hyperplasia with 20% of multinucleated erythroblasts. His red cells gave high agglutination scores with anti‐i, and haemolysis tests with acidified iso‐group sera were positive. A type II congenital dyserythropoietic anaemia was diagnosed in this patient and this was shown to be associated with von Willebrand's disease. A brother of the propositus also had a positive acidified serum test and showed agglutination by anti‐i, but polynucleated erythroblasts were not found.

Congenital dyserythropoietic anemia type II (CDA II) diagnosed in an adult patient

“…The binucleation of erythroblasts were readily appreciated (×600, H&E stain) Fig. 3 The binucleation of erythroblasts was characterized by two equal-sized nuclei and present in the erythroblasts at the later stages of maturation, mostly late polychromatophilic or orthochromatophilic erythroblasts (×1000, Wright-Giemsa stain) including Dubin-Johnson syndrome, Von Willebrand's disease, mental retardation, and Sweet's syndrome [19][20][21].…”