Congenital dyserythropoietic anemia type II (CDA II) diagnosed in an adult patient

The congenital dyserythropoietic anemias (CDAs) are a group of rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphologic abnormalities of the erythroblasts in the bone marrow. CDA type II (CDA II) is the most common subtype, with more than 300 cases reported in the literature. Patients often present with anemia, jaundice, and variable splenomegaly. Most cases of CDA II are diagnosed at a young age; some patients, however, may remain unrecognized until late adulthood. Unless CDA is considered in the differential diagnosis for anemia, adult patients are often subjected to extensive clinical work-up for many years prior to accurate diagnosis. Early recognition of CDA II is important to prevent end-organ damage secondary to iron overload, the most important complication of the disease. We report a case of CDA II diagnosed in a 48-year-old woman with a longstanding history of anemia of unknown etiology.