Erythrogenesis imperfecta
| Erythrogenesis imperfecta | |
|---|---|
| Term | Erythrogenesis imperfecta |
| Short definition | erythrogenesis imperfecta (eh-RITH-roh-JEH-neh-sis IM-per-FEK-tuh) 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. |
| Type | Cancer terms |
| Specialty | Oncology |
| Language | English |
| Source | NCI |
| Comments | |
erythrogenesis imperfecta - (pronounced) (eh-RITH-roh-JEH-neh-sis IM-per-FEK-tuh) 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 erythrogenesis imperfecta 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, congenital red blood cell aplasia, DBA, Diamond-Blackfan anemia and hereditary pure red cell aplasia
External links
- Medical encyclopedia article on Erythrogenesis imperfecta
- Wikipedia's article - Erythrogenesis imperfecta
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