Congenital dyserythropoietic anaemias (CDAs) are very rare, heterogeneous hereditary red blood cell disorders characterized by ineffective erythropoiesis, erythroblast morphological abnormalities, haemolysis, and hypoglycosylation of red-blood-cell membrane proteins and lipids. There are four types (I-IV) of the disease identified, and all of them are associated with abnormal maturation and division of erythroid precursors. We report the management of a rare case of CDA type II diagnosed in a 26-year-old pregnant woman.
Keywords: anisopoikilocytosis; congenital dyserythropoietic anemia; erythropoiesis; homozygous missense mutation; sec23b gene; splenomegaly.