Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions.
A hitherto undescribed form of congenital dyserythropoietic anaemia is reported. The patient was severely anaemic and hydropic at birth and is now 8 years old. She has a moderate normochromic normocytic anaemia. HbF level of 50%, reticulocyte count of 5-12% and hyperbilirubinaemia. Bone marrow smears showed intense normoblastic erythroid hyperplasia with morphological evidence of dyserythropoiesis; the most common dysplastic features were basophilic stippling of polychromatic erythroblasts and erythrocytes and marked abnormalities of nuclear shape in polychromatic erythroblasts. Electron microscope studies showed that some polychromatic erythroblasts and several erythrocytes contained inclusions which were rounded, elongated or irregular in outline or were doughnut-shaped. These inclusions consisted of compact masses of tubules and saccules which may represent smooth endoplastic reticulum together with Golgi cisternae. The ultrastructural studies also revealed peculiar membrane-bound cylindrical structures in a rare late erythroblast, and phagocytosed erythroblasts within some macrophages. The technique of combined Feulgen microspectrophotometry and 3H-thymidine autoradiography demonstrated a pile-up of early polychromatic erythroblasts in the G1 and G2 phases of the cell cycle, indicating a prolongation of, or an arrest at, these phases. Furthermore, nearly a quarter of all erythroblasts failed to incorporate 3H-leucine into protein. Thus the anaemia appeared to be due to a combination of disordered erythroblast function, increased ineffectiveness of erythropoiesis and peripheral haemolysis. The primary defect may be an excessive synthesis or impaired degradation of intracytoplasmic membranes.
Wickramasinghe
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SN
Department of Haematology, St Mary's Hospital Medical School, London.
Illum
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N
Wimberley
P D
PD
D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000473:pathology*; D001853:Bone Marrow / Q000473:pathology; D002648:Child; D004721:Endoplasmic Reticulum / Q000648:ultrastructure; D004900:Erythroblasts / Q000648:ultrastructure*; D004912:Erythrocytes / Q000648:ultrastructure*; D005260:Female; D006056:Golgi Apparatus / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007425:Intracellular Membranes / Q000648:ultrastructure; D008854:Microscopy, Electron