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  • Title: Congenital dyserythropoietic anemia type II: serologic and morphologic family study.
    Author: Ricci P, Baccarani M, Biagini G, Preda P, Tomasini I, Zucchelli P, Tura S.
    Journal: Nouv Rev Fr Hematol (1978); 1979; 21(2):197-207. PubMed ID: 514807.
    Abstract:
    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.
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