Summary
Erythroid cells in a patient with dyserythropoietic anemia (CDA) were examined for biochemical, serologic and ultrastructural alterations. The activity of hexokinase and 6-phosphogluconate dehydrogenase was increased and the acidified serum test was positive. These observations are consistent with CDA type II (CDA II), a diagnosis that has been said to depend on a positive acidified serum test. Electronmicroscopic analysis of the erythroid cells of the present patient indicated multinuclearity, karyorrhexis, continuity between cisternae of endoplasmic reticulum and the nuclear envelope at sites where the latter would show a complete break, extrusion of intracellular material and organelles, and excessive smooth endoplasmic reticulum. These observations may be considered the ultrastructural hallmark of CDA II. Most of them have also been made in four of five examined patients with positive acidified serum test whereas the fifth patient was reported to have markedly dissimilar erythroid ultrastructure. It appears, therefore, that diagnostic classification of CDA by the acidified serum test may not always coincide with that achieved by electronmicroscopy.
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We thank Mrs. Diane Clark and Miss Virginia Hardin for excellent assistance. This work was supported in part by NIH grant RR-123, RR-05535 and by the Cincinnati Children's Hospital Research Foundation.
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Kerkhoven, P., Marti, H.R. & Hug, G. Electronmicroscopic and biochemical observations on erythroid cells in congenital dyserythropoietic anemia type II. Virchows Arch. A Path. Anat. and Histol. 363, 1–15 (1974). https://doi.org/10.1007/BF00432200
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DOI: https://doi.org/10.1007/BF00432200