Vol. 1, Issue 1, Part A (2019)

Abstract: Introduction: Congenital dyserythropoietic anemia type 1 is characterized by autosomal recessive inheritance and a macrocytic anemia with dyserythropoietic features such as megaloblastoid changes, multinuclearity, and internuclear chromatin bridges. Case report: Here, we reporting a case of Congenital dyserythropoietic anemia type 1(CDA 1) in 4 years old girl who presented with fever and abdominal pain. Conclusion: Our case highlights the fact that diagnosis of CDA 1 can be made with high reliability by careful examination of bone marrow aspirate and Biochemical study.