congenital hypoplastic anemia
Definition: a macrocytic anemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors whereas other elements are normal; anemia 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. Both autosomal dominant and recessive forms have been described, caused by mutation in the gene encoding ribosomal protein S19 (RBS19) on chromosomal 19q.
Synonym(s): congenital nonregenerative anemia, Diamond-Blackfan anemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anemia, pure red cell anemia
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