Congenital pure red cell aplasia

Pronunciation

Definition 1

A very rare disorder in which the bone marrow doesn’t make enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They also have an increased risk of leukemia and sarcoma, especially osteosarcoma (bone cancer). Patients 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 inherited erythroblastopenia. (NCI Dictionary)

Definition 2

An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy. (NCI Thesaurus)

YOU MAY ALSO LIKE

Congenital Pulmonary Valve Insufficiency

Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth.

Congenital Pulmonary Lymphangiectasia

A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of…

Congenital Pulmonary Artery Stenosis

A congenital cardiovascular abnormality characterized by the narrowing of the lumen of the main pulmonary artery or its branches. It may be…

Congenital Postural Scoliosis

Abnormal sideways curvature of the spine that is present at birth.

Congenital Platelets Abnormality

A group of rare inherited platelet disorders that involve abnormalities of platelet function or platelet production and that usually cause moderate to…

Congenital Phrenic Nerve Palsy

Damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth.