Congenital Dyserythropoietic Anemia Type II: A Case Report

Abstract

Congenital dyserythropoietic anemia (CDA) type 2 is a rare genetic disease that presents with mild to severe anemia. The rare occurrence may be a reason why CDAs are often misdiagnosed since the morphological abnormalities and the clinical features are commonly found in other clinically-related anemias. We report a case of a 17-year-old male who presented in a tertiary care government hospital, with a history of lethargy, abdominal pain, abdominal fullness, and failure to thrive. Bone marrow biopsy reported the uncommon diagnosis of CDA type 2, the Ham test was also positive. The management included a multi-disciplinary approach alongside counseling of the family.

Congenital Dyserythropoietic Anemia

“…The mechanism of hepatic iron excess has been studied recently, primarily for CDA-II. Hepcidin's expression was previously shown to be reduced, and other erythroid regulators, such as growth/ differentiation factor 15, have been suggested as pathological suppressors of hepcidin expression 17 .…”