Congenital dyserythropoietic anemia with ultrastructural features of type I and II

The autopsy and electron microscopic findings in a pair of brothers with congenital dyserythropoietic anemia (CDA) are presented. In both patients autopsy revealed severe secondary hemochromatosis, including cirrhosis of the liver and fatal heart involvement. According to current ultrastructural cri...

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Bibliographic Details
Published in:Blut 1975-11, Vol.31 (5), p.271-281
Main Authors: Schuppler, J, Cornu, P, Krey, G, Gudat, F, Speck, B
Format: Article
Language:English
Subjects:
Adult
Anemia - complications
Anemia - congenital
Anemia - pathology
Anemia - surgery
Autopsy
Bone Marrow - pathology
Hemochromatosis - complications
Humans
Liver Cirrhosis - complications
Male
Microscopy, Electron
Splenectomy
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Summary:The autopsy and electron microscopic findings in a pair of brothers with congenital dyserythropoietic anemia (CDA) are presented. In both patients autopsy revealed severe secondary hemochromatosis, including cirrhosis of the liver and fatal heart involvement. According to current ultrastructural criteria, a mixture of CDA type I (interchromatin bridges, wide euchromatin-cytoplasmic connections) and of type II (marginal cisternae, nuclear protrusions, multinuclearity, karyorrhexis) was found in erythroblasts of one patient. In the second patient electron microscopy of bone marrow stored in formalin for several years allowed the diagnosis of CDA with marginal cisternae in retrospect. These findings illustrate the usefulness of electron microscopy for the diagnosis of CDA in unsolved cases of chronic ineffective erythropoiesis, even from formalin fixed material. For subtyping CDA into type I and II, however, other than morphological parameters should be used for definition. In the clinical management splenectomy and a drastic phlebotomy programme have been found favourable.
ISSN:0006-5242
1432-0584
DOI:10.1007/BF01634143