congenital dyserythropoietic anemia
Pronunciation: dis-eh-RITH-ro-poy-ET-ik
Also written as: CDA — congenital dyserythropoietic anemia
A rare inherited disorder characterized by ineffective red blood cell production with distinctive morphologic abnormalities.
Full Definition
Congenital dyserythropoietic anemia (CDA) comprises a group of rare inherited disorders characterized by ineffective erythropoiesis, resulting in anemia despite increased bone marrow erythroid activity. The condition is classified into several types (I, II, III, and others) based on specific morphologic and molecular features. Patients typically present with chronic anemia, jaundice, splenomegaly, and iron overload due to increased intestinal iron absorption and transfusion requirements. Distinctive features include multinucleated erythroblasts, nuclear bridging, and specific membrane protein abnormalities. Diagnosis relies on bone marrow examination, specialized testing, and genetic analysis.
Usage
Usage note: Commonly abbreviated as CDA; specify type when known (e.g., CDA type II).
In Context
- "Bone marrow examination revealed the characteristic multinucleated erythroblasts consistent with congenital dyserythropoietic anemia type II." — Pathology report