Severe congenital dyserythropoietic anaemia type I:: prenatal management, transfusion support and alpha-interferon therapy

We report a case of congenital dyserythropoietic anaemia, type I, with severe pre- and postnatal manifestations. Exchange transfusions were required for fetal anaemia (3.5 g/dl) at 28 and 30 weeks of gestation. Transfusions were administered at birth (Caesarean section at week 35) and at regular interals thereafter. At 14 months, alpha-interferon therapy was initiated (10(6) units three times a week). This resulted in stabilization of the haemoglobin at or above 11 g/dl and a reduction in the percentage of erythroblasts with ultrastructurally abnormal heterochromatin. After 9 months, the dose of alpha-interferon was decreased to 10(6) units twice a week. No relapse of anaemia was noted during an additional 4 months of follow-up.