Microcytic Anemia and a Delayed Need for Transfusion in a Case of
Diamond-Blackfan Anemia with Concomitant Thalassemia
Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia.
Classical anemia is a normochromic or macrocytic anemia with
reticulocytopenia. Patients with DBA are usually diagnosed and receive
transfusion in the first year. We report a patient who presented with
microcytic anemia and congenital malformations. The patient suffered a
sudden aggravation of disease during adolescence and received first
transfusion at 13 years of age. Exome sequencing eventually led to a
diagnosis of DBA with a mutated RPL5 gene. In conclusion, this case
demonstrates a confused manifestation of non-classical DBA and sudden
aggravation of disease in natural course of DBA.