AN UNUSUAL VARIANT OF CONGENITAL DYSERYTHROPOIETIC ANEMIA WITH MILD MATERNAL AND LETHAL FETAL DISEASE

An unusual variant of congenital dyserythropoietic anaemia is describe d presenting as mild haemolytic anaemia with multinucleated erythrobla sts in the marrow of the proband. The outcome of her non-consanguineou s pregnancy was a third trimester, in utero, fetal demise. The hydropi c fetus had dyserythropoiesis with circulating multinucleated erythrob lasts, and haemosiderosis. Re-evaluation of the proband revealed a var iant of congenital dyserythropoictic anaemia with an inheritance patte rn, and with morphological, serological and biochemical features which are not consistent with any of the three described variants of congen ital dyserythropoietic anaemias.