See Also: congenital hypoplastic anaemia(medicine)
Hypoplastic anaemia(medicine)
familial hypoplastic anaemia(medicine)
congenital anaemia(medicine)
congenital nonregenerative anaemia(medicine)
congenital spherocytic anaemia(medicine)
congenital haemolytic anaemia(medicine)
congenital aplastic anaemia(medicine)
anaemia, haemolytic, congenital(medicine)
congenital dyserythropoietic anaemia(medicine)

congenital hypoplastic anaemia (medicine)


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.