Congenital Dyserythropoietic Anaemia Type I: Absence of Clonal Expression in the Nuclear Abnormalities of Cultured Erythroblasts

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Abstract
Erythroid colonies derived from the circulating early erythroid precursor (BFU-E) of a patient with congenital dyserythropoietic anemia type I (CDA I) were grown in plasma clot and studied by EM. The number of circulating BFU-E was in the normal range with a roughly normal appearance at the light microscopic level. Investigation of individual colonies by EM has always shown a mixture of normal and abnormal erythroblasts exhibiting the typical nuclear aberrations found in vivo. The proportion of normal erythroblasts varied from one colony to another. After the release of the cells from the clot to permit new cellular interactions, macrophages were observed to phagocytose abnormal erythroblasts but also a few erythroblasts with normal nuclei. CDA I is apparently a disorder which results from a defective erythroid stem cell. The progeny of each BFU-E may vary considerably in the extent to which they express the morphological defects. Based on studies of cultures of BFU-E, similar conclusions were previously made for CDA II.