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Diamond-blackfan syndrome --> congenital hypoplastic anaemia

congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients.

Synonym: congenital nonregenerative anaemia, diamond-blackfan anaemia, diamond-blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia.