Diamond Blackfan Anaemia with Hypothyroidism and CNS Malformations.

Diamond Black fan Anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. The DBA patients have low red blood cell count (Anaemia). The rest of their blood cells (Platelets & WBCs) are normal. We present a 14 month old male child who presented with severe anaemia. The patient was transfusion dependent since 4 months of age. Clinical examination revealed delayed mile stones and a couple of congenital deformities. Haematological parameters showed elevated foetal haemoglobin level (Hb F – 11.8% ) and elevated serum TSH (thyroid stimulating hormone) level. Peripheral blood picture showed gross microcytic hypochromic red blood cells and absence of reticulocytes with normal levels of leucocytes and platelets. A bone marrow showed gross suppression of Erythroid series with M:E ratio of 30:1. Some large pronormoblasts were found. Family history was not significant. Compiling the clinical features, haematological parameters, PS and bone marrow findings, a diagnosis of DBA was given.

Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia

We describe a girl with Diamond-Blackfan anemia with accompanying red cell enolase deficiency. At the age of 9 yr old, the patient received allogeneic bone marrow transplantation from her HLA-identical sister who had normal red cell enolase activity. While the post transplant DNA analysis with short tandem repeat has continuously demonstrated a stable mixed chimerism on follow-up, the patient remains transfusion independent and continues to show a steady increase in red cell enolase activity for over two and a half years following bone marrow transplantation.