Abstract
A new variant of CDA was diagnosed in an 11-year-old Italian boy with life-long mild anemia. The patient was born at 28 weeks gestation and had somewhat delayed developmental milestones. Physical examination revealed short stature, microcephaly, and splenomegaly (4 cm). Hb ranged between 9-11 g/dl (MCV=83) and reticulocytes = 1%. Peripheral smear showed anisocytosis. Bone marrow aspirate revealed significant dyserythropoiesis with marked karyorrhexis (found in 60% of erythroblasts) and rare (3%) binuclearity and multinuclearity. The non α/α globin synthetic ratio in reticulocytes was 0.5. Betke-positive cells = 3.5% while Hb F = 0.2%. I antigen was normal while i antigen was elevated, consistent with stress erythropoiesis. Acid hemolysis was negative in several sera. All erythroid colonies and bursts from marrow and blood mononuclear cells had normal and abnormal cells, thus indicating a stem cell disorder. In the bone marrow aspirate as well as the colonies and bursts, cells which had normal morphology were less mature than those with abnormal morphology, suggesting a defect in precursor cell maturation. This patient thus has a CDA which does not fit any of the recognized types (I-III) but which, as in other cases of CDA, is due to defective erythroid maturation.
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Brochstein, J., Siena, S., Weinberg, R. et al. 887 CONGENITAL DYSERYTHROPOIETIC ANEMIA (CDA) WITH KARYORRHEXIS. Pediatr Res 19, 258 (1985). https://doi.org/10.1203/00006450-198504000-00917
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DOI: https://doi.org/10.1203/00006450-198504000-00917