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

作者信息

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

机构信息

Brigham and Women's Hospital, Department of Pathology, Boston, MA 02115.

出版信息

Br J Haematol. 1993 Jul;84(3):549-51. doi: 10.1111/j.1365-2141.1993.tb03119.x.

DOI:10.1111/j.1365-2141.1993.tb03119.x
PMID:8217810
Abstract

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 multinucleated 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.

摘要

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