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Congenital dyserythropoietic anaemia with erythroblastic multinuclearity
  1. Malcolm Bright,
  2. Jeremy Cobb,
  3. Byron Evans,
  4. T. E. Parry1
  1. Department of Medicine, Llandough Hospital Penarth, Glamorgan
  2. Department of Clinical Pathology, Llandough Hospital Penarth, Glamorgan


    A case of congenital dyserythropoietic anaemia with erythroblastic multinuclearity in a 36-year-old woman is described and the literature reviewed. The syndrome is characterized by a protracted clinical course, a relatively mild anaemia, a low reticulocyte count, slight hyperbilirubinaemia, splenomegaly, pronounced erythroid hyperplasia with reversal of the myeloid erythroid ratio, and in particular by the presence of multinucleated erythroblasts in the marrow. The picture of ineffective erythropoiesis is confirmed by erythrokinetic studies. The present case is the forty-first to be described in the literature and is the third from Britain. Thirty-one of these have occurred in seven families but a family history has been lacking in the remaining ten. The onset of anaemia occurred in childhood in 21 of the 41 cases.

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    • 1 Requests for reprints should be sent to Dr T. E. Parry, Department of Clinical Pathology, Llandough Hospital, Penarth, Glamorgan