Congenital Anemia Due to Erythropoietin Gene Mutation Presenting With Diamond–Blackfan Anemia-like features

Diamond-Blackfan anemia (DBA) is an inherited hypoplastic anemia, caused by mutations in ribosomal protein genes. Other mutations such as mutations in the erythropoietin (EPO) gene can lead to DBA-like (DBAL) through impairment of erythropoiesis. We present a 9-year-old patient with normocytic, normochromic, transfusion-dependent anemia since birth and reticulocytopenia. Bone marrow biopsies showed erythroid hypoplasia thereby excluding myelodysplasia and iron deficiency. Whole-exome sequencing revealed a homozygous mutation (c.530G>A; p.R177Q) in the EPO gene, which encodes a protein involved in erythroid progenitor-cell proliferation, confirmed the diagnosis of the DBAL. Diagnosis of congenital anemias has been complicated by their similar characteristics with DBA, but genetic testing is important in detecting rare causes of these disorders. This diagnosis enabled us to use recombinant human EPO therapy which reduced the need for blood transfusion.