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Congenital dyserythropoietic anemia, type II (Hempas) first five reported cases in Italy

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Summary

Five siblings from an italian family with congenital dyserythropoietic anaemia, type II, are reported. Diagnosis was established by demonstration of erythroid hyperplasia and erythroblastic multinuclearity in the bone marrow, and a positive acidified serum test.

Ferrokinetic studies revealed a significant degree of ineffective erythropoiesis in all five patients. Erythrocyte51Cr half-disappearance time was reduced in two patients. These cases are the first reported in Italy.

Zusammenfassung

Es wird eine italienische Familie mit erblicher erythroblastischer Multinuklearität und positiv saurem Serumtest (Hempas) beschrieben. Die Eltern waren klinisch und hämatologisch gesund, alle fünf Kinder zeigten jedoch klinisch und hämatologisch die charakteristischen Merkmale dieser Krankheit. Diese Fälle wurden erstmalig in Italien festgestellt.

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Author notes

  1. Enrico Dini

    Present address: Division of Haematology, Regional Civil Hospital, Vicenza, Italy

Authors and Affiliations

  1. Division of Haematology, Regional Civil Hospital, Vicenza, Italy

    Tiziano Barbui, Mario Cazzavillan, Teodoro Chisesi, Raffaele Battista & Giuseppe Cartei

Authors
  1. Tiziano Barbui
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  2. Mario Cazzavillan
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  3. Teodoro Chisesi
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  4. Raffaele Battista
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  5. Giuseppe Cartei
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  6. Enrico Dini
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Barbui, T., Cazzavillan, M., Chisesi, T. et al. Congenital dyserythropoietic anemia, type II (Hempas) first five reported cases in Italy. Blut 29, 391–397 (1974). https://doi.org/10.1007/BF01633674

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  • DOI: https://doi.org/10.1007/BF01633674

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