Congenital Pure Red Cell Aplasia

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Congenital Pure Red Cell Aplasia
TermCongenital Pure Red Cell Aplasia
Short definitionCongenital Pure Red Cell Aplasia - (pronounced) (kun-JEH-nih-tul … sel uh-PLAY-zhuh) A very rare condition in which the bone marrow does not produce enough red blood cells. It is usually seen in the first year of life. 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


Congenital Pure Red Cell Aplasia - (pronounced) (kun-JEH-nih-tul … sel uh-PLAY-zhuh) A very rare condition in which the bone marrow does not produce enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They are also at increased risk of leukemia and sarcoma, particularly osteosarcoma (bone cancer). People with congenital pure red cell aplasia may have a mutation (change) in one of the genes that make proteins found in the cell's ribosomes. Also called Blackfan-Diamond anemia, congenital hypoplastic anemia, DBA, Diamond-Blackfan anemia, erythrogenesis imperfecta and hereditary pure red cell aplasia

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