Congenital Dyserythropoietic Anemia Type I: A Rare Case Report

• Published in: Cureus Vol. 15; no. 11; p. e48594
• Main Authors: Nagar, Vaidehi, Patil, Nanda J
• Format: Report
• Language: English
• Published: 01.11.2023
• ISSN: 2168-8184; 2168-8184
• DOI: 10.7759/cureus.48594

Congenital dyserythropoietic anemias are a group of rare hereditary conditions affecting erythropoiesis. These disorders are characterized by anemia, primarily caused by inefficient erythropoiesis, as well as distinctive morphological abnormalities observed in most erythroblasts in the bone marrow. congenital dyserythropoietic anemia type I (CDA-I) is a hereditary condition characterized by inefficient production of red blood cells and excessive accumulation of iron. It follows an autosomal recessive pattern of inheritance. There have been approximately 300 recorded cases of CDA-I documented on a global scale. CDA-I is a rarely documented condition in the Indian subcontinent. Therefore, we will be examining a case of CDA-I in the present article. A male infant, aged four months, who had signs of vomiting, weight loss, and failure to thrive, was diagnosed with CDA-I following a bone marrow aspiration. Our experience provides further evidence supporting the notion that the accurate diagnosis of CDA-I can be achieved by doing a comprehensive assessment of bone marrow aspiration.