An unusual variant of congenital dyserythropoietic anaemia with mild maternal and lethal fetal disease

D. J. Roberts, A. Nadel, J. Lage, C. J. Rutherford

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Abstract

Summary. An unusual variant of congenital dyserythropoietic anaemia is described presenting as mild haemolytic anaemia with multinucleated erythroblasts in the marrow of the proband. The outcome of her non‐consanguineous pregnancy was a third trimester, in utero, fetal demise. The hydropic fetus had dyserythropoiesis with circulating multi‐nucleated erythroblasts, and haemosiderosis. Re‐evaluation of the proband revealed a variant of congenital dyserythropoietic anaemia with an inheritance pattern, and with morphological, serological and biochemical features which are not consistent with any of the three described variants of congenital dyserythropoietic anaemias.

Original languageEnglish (US)
Pages (from-to)549-551
Number of pages3
JournalBritish Journal of Haematology
Volume84
Issue number3
DOIs
StatePublished - Jul 1993

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ASJC Scopus subject areas

  • Hematology

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