Zusammenfassung
Bisherige Mitteilungen über Patienten mit kongenitaler dyserythropoetischer Anämie betreffen ausnahmslos Individuen kaukasischer Rasse. In der vorliegenden Arbeit wird erstmals über ein japanisches Geschwisterpaar berichtet, das die typischen lichtmikroskopischen, elektronenmikroskopischen und funktionalen Veränderungen dieser seltenen hereditären Erkrankung aufwiesen. Die Tatsache, daß die Eltern blutsverwandt waren, stützt die Annahme eines autosomal-recessiven Erbgangs.
Summary
This is the first case of two siblings with congenital dyserythropoietic anemia (CDA) type I to be reported from a Japanese family. Both of these cases showed characteristic morphological aberrations of erythroid precursors, ineffective erythropoiesis, and negative acidified serum test. The ultrastructural study of erythroblasts also revealed characteristics quite compatible with CDA type I.
This is a preview of subscription content, log in via an institution to check access.
References
Benjamin, J. T., Rosse, W. F., Dalldort, F. G., McMillan, C. W.: Congenital dyserythropoietic anemia-type IV. J. Pediatr.87, 210–216 (1975)
Crookston, J. H., Crookston, M. C., Burnie, K. L., Francombe, W. H.: Hereditary erythroblastic multinuclearity associated with a positive acidified serum test: A type of congenital dyserythropoietic anemia. Br. J. Haematol.17, 11–26 (1969)
Goudsmit, R., Beckers, D., Bruijne, J. I., Engelfriet, C. P., James, J., Morselt, A. F. W., Reynierse, E.: Congenital dyserythropoietic anemia, type III. Br. J. Haematol.23, 97–105 (1972)
Heimpel, H., Forteza-Vila, J., Queisser, W., Spiertz, E.: Electron and light microscopic study of the erythroblasts of patients with congenital dyserythropoietic anemia. Blood37, 299–310 (1971)
Heimpel, H.: Dyserythropoiese und dyserythropoietische Anämien. Schweiz. Med. Wochenschr.105, 1562–1568 (1975)
Heimpel, H.: Congenital dyserythropoietic anemia type I: Clinical and experimental aspects. In: Congenital disorders of erythropoiesis, Porter, R., Fitzsimons, D. W. (eds.). Ciba Found. Symp. 37 (new series) pp. 135–149. Amsterdam: Elsevier 1976
Lewis, S. M., Grammaticos, P., Dacie, J. V.: Lysis by anti-I in dyserythropoietic anemias: Role of increased uptake of antibody. Br. J. Haematol.18, 465–474 (1970)
Lewis, S. M., Nelson, D. A., Pitcher, C. S.: Clinical and ultrastructural aspects of congenital dyserythropoietic anemia type I. Br. J. Haematol.23, 113–119 (1972)
Omine, M., Iwata, N., Arai, T., Yamauchi, H., Tsuchiya, J., Maekawa, T.: Deoxyribonucleotide metabolism in pernicious anemia. Metab. Dis.15, 169–176 (1978) (in Japanese)
Weatherall, D. J., Clegg, J. B.: The pattern of disordered haemoglobin synthesis in homozygous and heterozygous β-thalassemia. Br. J. Haematol.16, 251–267 (1969)
Wolff, J. A., von Hofe, F. H.: Familial erythroid multinuclearity. Blood6, 1274–1283 (1951)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kuribayashi, T., Uchida, S., Kuroume, T. et al. Congenital dyserythropoietic anemia type I: Report of a pair of siblings in Japan. Blut 39, 201–209 (1979). https://doi.org/10.1007/BF01008449
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01008449