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Medical Research Council Molecular Haematology Unit, The Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DS, UK. raffaele.renella@imm.ox.ac.uk
The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of hereditary disorders that seem to be restricted to the erythroid lineage. They are characterized by morphologic abnormalities of erythroid precursors in the bone marrow, resulting in ineffective erythropoiesis and a suboptimal reticulocyte response. As with many rare disorders, cases of CDA are often misdiagnosed, which may lead to inappropriate management. In this review, the authors highlight the relevant clinical data together with recent molecular advances that should aid decision making in diagnosis and patient management.
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