Congenital Dyserythropoietic Anaemia Type II: A Rare Blood Disorder in a Nigerian Child

ABSTRACT

The congenital dyserythropoietic anaemias (CDA) are a rare group of inherited haematological disorders characterized by congenital anaemia, ineffective erythropoiesis in the bone marrow and dysplasia in developing erythroblasts. In Africa where sickle cell anaemia and thalassaemias are common, diagnosis of CDA may be missed. We report a six year old girl who presented in anaemic heart failure with a haemoglobin concentration of 5.1g/dL and a history of recurrent anaemia of two years duration which required multiple blood transfusions. Peripheral blood film features showed red cell anisopoikilocytosis with occasional nucleated red cells- some of which were multinucleated. Her haemoglobin genotype was AA. Bone marrow aspiration revealed a markedly hypercellular marrow with severe erythroid hyperplasia and dyserythropoiesis. Her serum ferritin was also markedly elevated. Based on the clinical, laboratory and characteristic bone marrow findings, a diagnosis of CDA type II was made. She was transfused and placed on iron chelation therapy. Her parents were counseled on treatment options and she is currently on follow up.