A Patient with Congenital Dyserythropoietic Anaemia Type III Presenting with Stillbirths

Abstract

A 28-year-old female patient presented with recurrent stillbirths between 28 and 30 weeks of gestation. At least one of the stillborn was hydropic at birth; α-thalassaemia and Rh isoimmunisation were ruled out. The patient was found to be suffering from congenital dyserythropoietic anaemia (CDA) type III, a rare form of congenital anaemia inherited as an autosomal dominant character in some families. It is tempting to speculate that at least the hydropic stillborn inherited the same disorder from the mother. CDA type III as a cause of hydrops fetalis has not been reported in the literature. The patient, who was transfusion-dependent, underwent splenectomy. Subsequently she did not need any transfusion for the last 6 months.

Advances in the understanding of the congenital dyserythropoietic anaemias

“…Only one of two other cases showed a sustained improvement (unpublished observations). In three sporadic cases of CDA type III, splenectomy had a beneficial effect (Choudhry et al , 1981; Jijina et al , 1998). Some cases of CDA other than types I–III showed a response (Samson et al , 1977) and others did not (Bird et al , 1985).…”

“…The sporadic cases are clinically heterogeneous. Hepatosplenomegaly was present in five patients (Clauvel et al, 1972;Goudsmit et al, 1972;Wickramasinghe et al, 1982;Jijina et al, 1998;Rohrig et al, 2000) but not in another two (McCluggage et al, 1996;Sigler et al, 2002). Single cases had haemosiderinuria (Wickramasinghe et al, 1982), severe iron overload and cirrhosis (Clauvel et al, 1972), a high serum ferritin (Sigler et al, 2002), mental retardation, Mongoloid facies and a hairon-end appearance on the radiograph of the skull (Goudsmit et al, 1972), respiratory insufficiency secondary to large intrathoracic paravertebral masses of extramedullary haemopoiesis (together with the hair-on-end appearance on the skull radiograph) (Krouwels et al, 1999), atrioseptal defect leading to congestive cardiac failure (Rohrig et al, 2000) and recurrent stillbirths (Jijina et al, 1998).…”

Blackfan–Diamond anemia and dyserythropoietic anemia presenting with increased nuchal translucency at 12 weeks of gestation

“…Lind et al 14 There are several previous case reports on dyserythropoietic anemia causing hydrops fetalis, and intrauterine or neonatal death [15][16][17] . Jijina et al 18 published the case of a woman affected by CDA III and treated with regular transfusions; her four pregnancies resulted in intrauterine deaths at 25-30 weeks. There are also reports of severely anemic neonates that survived but became transfusion dependent 19,20 .…”

The congenital dyserythropoieitic anemias: genetics and pathophysiology

“…CDA III is less common than CDA I and II. Though several families and sporadic cases have been reported [75][76][77][78][79][80][81][82][83][84][85][86], much of the knowledge gained about CDA III originates from studying one large Swedish family with more than 20 affected members [87]. In this family, affected individuals were found to be at risk of developing retinal angioid streaks [88] and monoclonal gammopathies [89].…”