Congenital dyserythropoietic anemia type II: serologic and morphologic family study.

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.

• Authors: P Ricci, M Baccarani, G Biagini, P Preda, I Tomasini, P Zucchelli, S Tura
• Journal: Nouvelle revue francaise d'hematologie (Nouv Rev Fr Hematol (1978)) Vol. 21 Issue 2 Pg. 197-207 ( 1979) Germany
• PMID: 514807 (Publication Type: Case Reports, Journal Article)

Chemical References

• Bilirubin

Topics

• Adult
• Anemia, Dyserythropoietic, Congenital (genetics, immunology, pathology)
• Anemia, Hemolytic, Congenital (genetics)
• Bilirubin (blood)
• Blood Cell Count
• Bone Marrow (ultrastructure)
• Child
• Erythroblasts (ultrastructure)
• Female
• Humans
• Male
• Middle Aged