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Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III

Wickramasinghe, S. N. ; Wahlin, A. ; Anstee, D. ; Parsons, S. F. ; Stopps, G. ; Bergstrom, I. ; Eriksson, M. LU orcid ; Sandstrom, H. and Shiels, S. (1993) In European Journal of Haematology 50(4). p.213-221
Abstract

Abstract: Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) grossly disorganised erythroblast nuclei, (c) differences in the ultrastructural appearances of individual nuclei within the same multinucleate erythroblast and (d) intraerythroblastic inclusions resembling precipitated globin chains. In both cases the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up... (More)

Abstract: Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) grossly disorganised erythroblast nuclei, (c) differences in the ultrastructural appearances of individual nuclei within the same multinucleate erythroblast and (d) intraerythroblastic inclusions resembling precipitated globin chains. In both cases the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28c (1c = haploid DNA content) and 48c respectively, and some DNA synthesising bi‐ and multinucleate erythroblasts contained one or more nuclei which were unlabelled with 3H‐thymidine. These findings are similar to those in patients with the autosomal recessive type of disease. Thus no major phenotypic differences are yet apparent between cases of CDA, type III, with different patterns of inheritance. Analysis of the surface erythrocyte proteins of the 2 Swedish CDA, type III, patients with monoclonal antibodies recognising Band 3, glycophorins A, B, C and D, Rh, CD44, CD47, CD55, CD58, CD59, Lutheran, Kell, LW and acetylcholinesterase did not reveal any gross abnormality of expression of these proteins. A slightly altered expression of blood group antigens A and H was revealed by the lectins Dolichos biflorus and Ulex europaeus and the Mr of Band 3 as judged by SDS polyacrylamide gel electrophoresis was also slightly reduced, suggesting that there may be minor alterations in the degree of N‐glycosylation of some red cell membrane constituents.

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author
; ; ; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
keywords
autosomal dominant, CDA, DNA content and synthesis, haemosiderinuria, N‐glycosylation, red cell membrane, type III, ultrastructure
in
European Journal of Haematology
volume
50
issue
4
pages
213 - 221
publisher
Wiley-Blackwell
external identifiers
  • pmid:8500603
  • scopus:0027252961
ISSN
0902-4441
DOI
10.1111/j.1600-0609.1993.tb01923.x
language
English
LU publication?
no
id
9c90f8f8-03f6-4c42-b169-38ed491d492b
date added to LUP
2020-03-30 16:15:22
date last changed
2024-01-02 07:57:07
@article{9c90f8f8-03f6-4c42-b169-38ed491d492b,
  abstract     = {{<p>Abstract:  Two affected individuals of the Swedish family with CDA, type III, in which the disease is transmitted as an autosomal dominant character, were studied. Both cases displayed features hitherto undescribed in this family but described in patients with CDA, type III, in whom the inheritance may have been as an autosomal recessive character. Such features were: (a) haemosiderinuria, (b) grossly disorganised erythroblast nuclei, (c) differences in the ultrastructural appearances of individual nuclei within the same multinucleate erythroblast and (d) intraerythroblastic inclusions resembling precipitated globin chains. In both cases the giant mononucleate erythroblasts and the multinucleate erythroblasts had total DNA contents up to 28c (1c = haploid DNA content) and 48c respectively, and some DNA synthesising bi‐ and multinucleate erythroblasts contained one or more nuclei which were unlabelled with <sup>3</sup>H‐thymidine. These findings are similar to those in patients with the autosomal recessive type of disease. Thus no major phenotypic differences are yet apparent between cases of CDA, type III, with different patterns of inheritance. Analysis of the surface erythrocyte proteins of the 2 Swedish CDA, type III, patients with monoclonal antibodies recognising Band 3, glycophorins A, B, C and D, Rh, CD44, CD47, CD55, CD58, CD59, Lutheran, Kell, LW and acetylcholinesterase did not reveal any gross abnormality of expression of these proteins. A slightly altered expression of blood group antigens A and H was revealed by the lectins Dolichos biflorus and Ulex europaeus and the Mr of Band 3 as judged by SDS polyacrylamide gel electrophoresis was also slightly reduced, suggesting that there may be minor alterations in the degree of N‐glycosylation of some red cell membrane constituents.</p>}},
  author       = {{Wickramasinghe, S. N. and Wahlin, A. and Anstee, D. and Parsons, S. F. and Stopps, G. and Bergstrom, I. and Eriksson, M. and Sandstrom, H. and Shiels, S.}},
  issn         = {{0902-4441}},
  keywords     = {{autosomal dominant; CDA; DNA content and synthesis; haemosiderinuria; N‐glycosylation; red cell membrane; type III; ultrastructure}},
  language     = {{eng}},
  month        = {{01}},
  number       = {{4}},
  pages        = {{213--221}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{European Journal of Haematology}},
  title        = {{Observations on two members of the Swedish family with congenital dyserythropoietic anaemia, type III}},
  url          = {{http://dx.doi.org/10.1111/j.1600-0609.1993.tb01923.x}},
  doi          = {{10.1111/j.1600-0609.1993.tb01923.x}},
  volume       = {{50}},
  year         = {{1993}},
}