{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T05:39:13Z","timestamp":1790228353799,"version":"4.1.0"},"reference-count":25,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[1986,8]]},"abstract":"<jats:p>Two patients with congenital dyserythropoietic anaemia, type I (CDA) were studied. Their blood reticulocytes showed unbalanced globin chain synthesis with increased alpha:beta globin chain synthesis ratios. A high proportion of the erythroblasts displayed the characteristic \"Swiss cheese\" abnormality of the nuclear chromatin and some also showed cytoplasmic intrusions lined with nuclear membrane within the nucleus. Occasional erythroblast profiles contained intracytoplasmic inclusions that were ultrastructurally indistinguishable from precipitated alpha chains. The technique of combined Feulgen microspectrophotometry and 3H-thymidine autoradiography showed gross abnormalities of proliferation in the early polychromatic erythroblasts. The proliferative abnormalities included an arrest of DNA synthesis after the progress of cells through part of the S phase and the formation of several mononucleate and binucleate cells with hypertetraploid total DNA contents. The bone marrow cells gave a normal deoxyuridine suppressed value, indicating that there was no impairment of the methylation of deoxyuridylate. Electron microscope autoradiographic studies showed that a high proportion of the erythroblasts with the \"Swiss cheese\" nuclear abnormality suffered from a severe impairment, or arrest of DNA, RNA, and protein synthesis.<\/jats:p>","DOI":"10.1136\/jcp.39.8.881","type":"journal-article","created":{"date-parts":[[2007,6,9]],"date-time":"2007-06-09T00:50:46Z","timestamp":1181350246000},"page":"881-890","source":"Crossref","is-referenced-by-count":30,"title":["Studies of erythroblast function in congenital dyserythropoietic anaemia, type I: evidence of impaired DNA, RNA, and protein synthesis and unbalanced globin chain synthesis in ultrastructurally abnormal cells."],"prefix":"10.1136","volume":"39","author":[{"given":"S N","family":"Wickramasinghe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M J","family":"Pippard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1986,8,1]]},"reference":[{"key":"ref_1","first-page":"135","article-title":"Congenital dyserythropoietic anaemia type 1: clinical and experimental aspects. In: Congenital Disorders of Er'thropoiesis","author":"Heimpel, H.","year":"1976","unstructured":"Heimpel H. Congenital dyserythropoietic anaemia type 1: clinical and experimental aspects. In: Congenital Disorders of Er'thropoiesis. Amsterdam: Elsevier, 1976:135-46."},{"key":"ref_2","first-page":"55","article-title":"Congenital dyserythropoietic anaemia, type 1","author":"t Heimpel H","year":"1977","unstructured":"t Heimpel H. Congenital dyserythropoietic anaemia, type 1. In: Lewis SM, Verwilghen RL. eds. Dysern'thropoiesis. London: Academic Press, 1977:55-70."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1182\/blood.V37.3.299.299","article-title":"Electron and light microscopic study of the erythroblasts of patients with congenital dyserythropoietic anemia","volume":"37","author":"J, Heimpel H.Forteza-Vila; W, Queisser; E, Spiertz","year":"1971","unstructured":"Heimpel H. Forteza-Vila J, Queisser W, Spiertz E. Electron and light microscopic study of the erythroblasts of patients with congenital dyserythropoietic anemia. Blood 1971;37:299-310.","journal-title":"Blood"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1111\/j.1365-2141.1972.tb03465.x","article-title":"Clinical and ultrastructural aspects of congenital dyserythropoietic anaemia type 1","volume":"23","author":"Lewis, S.M.; Nelson, D.A.; Pitcher, C.S.","year":"1972","unstructured":"Lewis SM, Nelson DA, Pitcher CS. Clinical and ultrastructural aspects of congenital dyserythropoietic anaemia type 1. Br J Haemaiol 1972;23:113-9.","journal-title":"Br J Haemaiol"},{"key":"ref_5","first-page":"134","article-title":"Ferrokinetic measurements","volume-title":"Methods in haematologi: iron. Vol 1","author":"Cook, J.D.; Finch, C.A.","year":"1980","unstructured":"Cook JD, Finch CA. Ferrokinetic measurements. In: Cook JD, ed. Methods in haematologi: iron. Vol 1. Edinburgh: Churchill Livingstone, 1980:134-47."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1111\/j.1365-2141.1980.tb07189.x","article-title":"Recommended method for radioisotope red-cell survival studies","volume":"45","year":"1980","unstructured":"Recommended method for radioisotope red-cell survival studies. Br J Haematol 1980;45:659-66.","journal-title":"Br J Haematol"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1111\/j.1365-2141.1976.tb00190.x","article-title":"Alpha-thalassaemia trait in various racial groups in the United Kingdom: characterization of a variant of alpha-thalassaemia in Indians","volume":"34","author":"Walford, D.M.; Deacon, R.","year":"1976","unstructured":"Walford DM, Deacon R. Alpha-thalassaemia trait in various racial groups in the United Kingdom: characterization of a variant of alpha-thalassaemia in Indians. Br J Haematol 1976;34:193-206.","journal-title":"Br J Haematol"},{"key":"ref_8","first-page":"91","article-title":"Abnormal human haemoglobins. Separation and characterization of the a and # chains by chromatography and the determination of two new variants, Hb","volume":"19","author":"Clegg, J.B.; Naughton, M.A.; Weatherall, D.J.","year":"1966","unstructured":"Clegg JB, Naughton MA, Weatherall DJ. Abnormal human haemoglobins. Separation and characterization of the a and # chains by chromatography and the determination of two new variants, Hb Chesapeake and HbJ (Bangkok). J Mol Biol 1966;19:91-108.","journal-title":"Chesapeake and HbJ (Bangkok). J Mol Biol"},{"issue":"41","key":"ref_9","first-page":"485","article-title":"Some aspects of the biology of multinucleate and giant mononucleate erythroblasts in a patient with CDA, type III","volume":"1979","author":"Wickramasinghe, S.N.; Goudsmit, R.","unstructured":"Wickramasinghe SN, Goudsmit R. Some aspects of the biology of multinucleate and giant mononucleate erythroblasts in a patient with CDA, type III. Br J Haematol 1979,41:485-95.","journal-title":"Br J Haematol"},{"key":"ref_10","first-page":"196","article-title":"The deoxyuridine suppression test","volume-title":"Methods in haematologv: the Cobalamins. Vol","volume":"10","author":"Wickramasinghe, S.N.","year":"1983","unstructured":"Wickramasinghe SN. The deoxyuridine suppression test. In: Hall CA, ed. Methods in haematologv: the Cobalamins. Vol 10. Edinburgh: Churchill Livingstone, 1983:196-208."},{"key":"ref_11","first-page":"9","article-title":"Studies on the cell cycle in human bone marrow","volume-title":"cytochemistry and its applications","author":"Wickramasinghe, S.N.","year":"1979","unstructured":"Wickramasinghe SN. Studies on the cell cycle in human bone marrow. In: Pattison JR, Bitensky L, Chayen J, eds. Quantitative cytochemistry and its applications. London: Academic Press, 1979:9-22."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1111\/j.1365-2141.1984.tb02946.x","article-title":"Ultrastructure and cell cycle distribution of erythropoietic cells in heterozygotes and homozygotes for haemoglobin E","volume":"57","author":"Wickramasinghe, S.N.; Hughes, M.; Wasi, P.; Fucharoen, S.; Litwinczuk, R.A.C.","year":"1984","unstructured":"Wickramasinghe SN, Hughes M, Wasi P, Fucharoen S, Litwinczuk RAC. Ultrastructure and cell cycle distribution of erythropoietic cells in heterozygotes and homozygotes for haemoglobin E. Br J Haematol 1984;57:685-94.","journal-title":"Br J Haematol"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/j.1365-2141.1980.tb05986.x","article-title":"Ultrastructural studies of erythropoiesis in fi-thalassaemia trait","volume":"46","author":"Wickramasinghe, S.N.; Hughes, M.","year":"1980","unstructured":"Wickramasinghe SN, Hughes M. Ultrastructural studies of erythropoiesis in fi-thalassaemia trait. Br J Haematol 1980;46:401-7.","journal-title":"Br J Haematol"},{"key":"ref_14","first-page":"35","article-title":"Globin chain precipitation, deranged iron metabolism and dyserythropoiesis in some thalassaemia syndromes","volume":"17","author":"Wickramasinghe, S.N.; Hughes, M.","year":"1984","unstructured":"Wickramasinghe SN, Hughes M. Globin chain precipitation, deranged iron metabolism and dyserythropoiesis in some thalassaemia syndromes. Haematologia 1984;17:35-55.","journal-title":"Haematologia"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1007\/BF01497130","article-title":"Ultrastruktur der gestorten erythropoiese bei einer kongenitalen dyserythropoietischen anamie","volume":"48","year":"1970","unstructured":"Keyserlingk DG, Boll 1, Meuret G. Ultrastruktur der gestorten erythropoiese bei einer kongenitalen dyserythropoietischen anamie. Klin Wochenschr 1970;48:728-36.","journal-title":"Klin Wochenschr"},{"key":"ref_16","first-page":"23","article-title":"Anomalies ultrastructurales des erythroblastes et des erythrocytes dans six cas de dyserythropoiese congenitale","volume":"13","author":"Breton-Gorius, J.; Daniel, M.T.; Clauvel, J.P.; Dreyfus, B.","year":"1973","unstructured":"Breton-Gorius J, Daniel MT, Clauvel JP, Dreyfus B. Anomalies ultrastructurales des erythroblastes et des erythrocytes dans six cas de dyserythropoiese congenitale. Nouv Rev Fr Hematol 1973;13:23-50.","journal-title":"Nouv Rev Fr Hematol"},{"key":"ref_17","first-page":"30","article-title":"Type I congenital dyserythropoietic anemia (CDA I): ultrastructural findings","volume":"68","author":"Dell'orbo, C.; Marchi, A.; Monafo, V.","year":"1983","unstructured":"Dell'orbo C, Marchi A, Monafo V, et al. Type I congenital dyserythropoietic anemia (CDA I): ultrastructural findings. Haematologica 1983;68:30-7.","journal-title":"Haematologica"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1007\/BF00320693","article-title":"Congenital dyserythropoietic anemia type I: a freezefracture and thin section electron microscopic study","volume":"46","author":"Hiraoka, A.; Kanayama, Y.; Yonezawa, T.; Kitani, T.; Tarui, S.; Hashimoto, P.H.","year":"1983","unstructured":"Hiraoka A, Kanayama Y, Yonezawa T, Kitani T, Tarui S, Hashimoto PH. Congenital dyserythropoietic anemia type I: a freezefracture and thin section electron microscopic study. Blut 1983;46:329-38.","journal-title":"Blut"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1203\/00006450-198212000-00010","article-title":"Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II","volume":"16","author":"Alloisio, N.; Jaccoud, P.; Dorleac, E.","year":"1982","unstructured":"Alloisio N, Jaccoud P, Dorleac E, et al. Alterations of globin chain synthesis and of red cell membrane proteins in congenital dyserythropoietic anemia I and II. Pediatr Res 1982;16:1016-21.","journal-title":"Pediatr Res"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1111\/j.1365-2141.1973.tb01696.x","article-title":"A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia","volume":"24","author":"Weatherall, D.J.; Clegg, J.B.; Knox-Macaulay, H.M.; Bunch, C.; Hopkins, C.R.; Temperley, I.J.","year":"1973","unstructured":"Weatherall DJ, Clegg JB, Knox-Macaulay HM, Bunch C, Hopkins CR, Temperley IJ. A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. Br J Haematol 1973;24:681-702.","journal-title":"Br J Haematol"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1182\/blood.V42.6.843.843","article-title":"Unbalanced globin chain synthesis in congenital dyserythropoietic anaemia","volume":"42","author":"Hruby, M.A.; Mason, R.G.; Honig, G.R.","year":"1973","unstructured":"Hruby MA, Mason RG, Honig GR. Unbalanced globin chain synthesis in congenital dyserythropoietic anaemia. Blood 1973;42:843-50.","journal-title":"Blood"},{"issue":"1","key":"ref_22","first-page":"138","article-title":"Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family","volume":"14","author":"Eldor, A.; Matzner, Y.; Kahane, I.; Levene, C.; Polliack, A.","year":"1978","unstructured":"Eldor A, Matzner Y, Kahane I, Levene C, Polliack A. Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family. Isr J Med Sci 1978;14:1 138-43.","journal-title":"Isr J Med Sci"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1159\/000208608","article-title":"Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II","volume":"45","author":"Queisser, W.; Spiertz, E.; Jost, E.; Heimpel, H.","year":"1971","unstructured":"Queisser W, Spiertz E, Jost E, Heimpel H. Proliferation disturbances of erythroblasts in congenital dyserythropoietic anemia type I and II. Acta Haematol 1971;45:65-76.","journal-title":"Acta Haematol"},{"key":"ref_24","first-page":"32","article-title":"hemoglobin-content and DNA-synthesis in erythroblasts in a case of congenital dyserythropoietic anemia type 1. Blut","volume":"24","author":"Meuret, G.; Tschan, P.; Schluter, G.; Keyserlingk, D.G.; DNA-, Boll I.; histone-, R.N.A.","year":"1972","unstructured":"Meuret G, Tschan P, Schluter G, Keyserlingk DG, Boll I. DNA-, histone-, RNA-, hemoglobin-content and DNA-synthesis in erythroblasts in a case of congenital dyserythropoietic anemia type 1. Blut 1972;24:32-41."},{"key":"ref_25","first-page":"17","article-title":"Impaired protein synthesis in erythroblasts enhances their phagocytosis by macrophages","volume":"1","author":"Wiener, E.; Wickramasinghe, S.N.","year":"1983","unstructured":"Wiener E, Wickramasinghe SN. Impaired protein synthesis in erythroblasts enhances their phagocytosis by macrophages. Br J Haematol 1983;53:1 17-24.","journal-title":"Br J Haematol"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jcp.39.8.881","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T02:06:58Z","timestamp":1764986818000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jcp.39.8.881"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,8]]},"references-count":25,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1986,8,1]]},"published-print":{"date-parts":[[1986,8]]}},"alternative-id":["10.1136\/jcp.39.8.881"],"URL":"https:\/\/doi.org\/10.1136\/jcp.39.8.881","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,8]]}}}