Gabriela Smolenska-Sym

Publications (2)9.04 Total impact

• Article: Frequency of congenital dyserythropoietic anemias in Europe.

  Hermann Heimpel, Andreas Matuschek, Momin Ahmed, Brigitte Bader-Meunier, Adriana Colita, Jean Delaunay, Loic Garcon, Florinda Gilsanz, Jeroen Goede, Josef Högel, [......], Rosi Leichtle, Juan Munoz, Silverio Perrotta, Carlo Piscopo, Raffaele Renella, Klaus Schwarz, Gabriela Smolenska-Sym, Sunitha Wickramasinghe, Alberto Zanella, Achille Iolascon
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  ABSTRACT: Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and striking abnormalities of erythroblast morphology. The mutated genes are known for the most frequent types, CDA I and II, but data about their frequency do not exist. The objective of this retrospective study was to estimate the frequency of CDA I and II, based on all cases reported in the last 42 yr in publications and identified registries or surveys. Reports were collected of 124 and 377 confirmed cases of CDA I and CDA II cases, respectively. The cumulated incidence of both types combined varied widely between European regions, with minimal values of 0.08 cases/million in Scandinavia and 2.60 cases/million in Italy. CDA II is more frequent than CDA I, with an overall ratio of approximately 3.2, but the ratio also varied between different regions. The most likely explanations for the differences are both differences in the availability of advanced diagnostic procedures and different levels of the awareness for the diagnosis of the CDAs. The estimations reported here are most probably below the true incidence rates, because of failure to make the correct diagnosis and to underreporting. Limited data do not suggest differing levels of risk in identified ethnic groups.
  European Journal Of Haematology 07/2010; 85(1):20-5. · 2.61 Impact Factor
• Article: Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene.

  Ewa Zdebska, Achille Iolascon, Justyna Spychalska, Silverio Perrotta, Carmen Lanzara, Gabriela Smolenska-Sym, Jerzy Koscielak
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  ABSTRACT: We analyzed erythrocyte glycoconjugates in two families with congenital dyserythropoietic anemia type II (CDA-II): family 2 with the typical localization of the disease gene to chromosome 20q11.2 and family 1 in which this localization was excluded. Despite the different genetics, the erythrocyte glycoconjugate abnormalities in the two families were identical suggesting a complex inheritance of CDA-II. We also found that erythrocyte anion exchanger 1 protein is decreased in CDA-II homozygotes and obligate carriers alike.
  Haematologica 04/2007; 92(3):427-8. · 6.42 Impact Factor