A life-threatening episode of treatment-resistant haemolysis in a pregnant patient with dyserythropoietic anaemia (CDA) type I

摘要

Congenital dyserythropoietic anaemia type I (CDA type I) is a rare autosomal recessive disorder, caused by a mutation in CDAN1 gene on chromosome 15. It is associated with mild anaemia, iron overloading, gallstones and splenomegaly (Heimpel et ah, 2006). Information on the management of CDA in pregnancy is scarce, but patients mostly become transiently transfusion-dependent. Prematurity, small birth weight and early neonatal jaundice occur frequently (Shalev etal., 2008). Here, we present a pregnant female with CDA type I and life-threatening treatment refractory haemolysis, which started after red blood cell transfusion and finally responded to splenectomy.