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

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.

Advances in the understanding of the congenital dyserythropoietic anaemias

“…In some patients, in addition to the ineffective erythropoiesis, red cell life‐span is moderately or severely shortened (Barosi et al , 1979), especially in CDA type II. In most patients, the anaemia is mild to moderate but it is sometimes severe and may cause fetal distress or hydrops fetalis (Carter et al , 1989; Kristiansen et al , 1990; Williams et al , 1990; Roberts et al , 1993; Tekinalp et al , 2001). The combination of ineffective erythropoiesis and the variable degree of shortening of red cell life‐span may cause hyperbilirubinaemia, jaundice and pigment gall stones.…”

Dyserythropoiesis and Congenital Dyserythropoietic Anaemias

“…Splenomegaly may be present. The anaemia is often mild to moderate but may be severe and, rarely, causes fetal distress or hydrops fetalis (Carter et al, 1989;Williams et al, 1990;Kristiansen et al, 1990;Roberts et al, 1993). In some patients the circulating red cells have a moderately or severely shortened life-span (Barosi et al, 1979).…”

Lethal Congenital Dyserythropoietic Anaemia Type I in Siblings Presenting as Pericardial Effusions in the Second Trimester

“…There appear to have been only four other previous reports in the English literature of congenital dyserythropoietic anaemia presenting as non-immune hydrops [3][4][5][6]. These cases have been associated with either CDA type II or variants of the condition.…”