Congenital dyserythropoietic anemia type II: serologic and morphologic family study.
A 29-year old woman with a history of chronic anemia, jaundice, and splenectomy was found to have congenital dyserythropoietic anemia type II (CDA II), based on the following: marrow erythroid hyperplasia, abundance of binucleated erythroblasts, electron microscopic evidence of double membranes lining the cell membrane, erythrocyte lysis in the acidified serum test, erythrocyte agglutination and lysis by anti-i antibodies. Three healthy relatives (mother, father, and brother) of the patient had marrow erythroid hyperplasia and a percentage of binucleated erythroblasts that was higher than normal. A structural alteration of the nuclear membrane was detected in some of their erythroblasts. Furthermore, the erythrocytes of the father and the brother were agglutinated by anti-i antibodies. This observation is consistent with a recessive mechanism of inheritance, and suggests that heterozygosity for CDA II can be somatically expressed at different levels.
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics*; D001663:Bilirubin / Q000097:blood; D001772:Blood Cell Count; D001853:Bone Marrow / Q000648:ultrastructure; D002648:Child; D004900:Erythroblasts / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged
D001663:Bilirubin