Congenital Dyserythropoietic Anemia Type III Associated With a Novel KIF23 Variant (c.2132A>G; p.Gln711Arg): A Case Report.

Congenital dyserythropoietic anemia type III (CDA III) is an extremely rare inherited disorder characterized by ineffective erythropoiesis, multinucleated erythroblasts in the bone marrow, and variable clinical gravity. We report the case of a 6-year-old boy, presenting with abdominal distension, failure to thrive, dark urine, intermittent itching, and recurrent infections. Physical examination revealed pallor, hepatomegaly, and splenomegaly. Laboratory investigations showed mild normocytic anemia, high liver enzymes, and erythroid hyperplasia. The sequencing of the whole exoma identified a variant of uncertain meaning in the KIF23 gene, which is implicated in cytokinesis and attached to the pathogenesis of CDA III. The patient remains clinically stable in support management, without the current need for transfusion. This case highlights the importance of advanced genetic tests in the diagnosis of rare hematological conditions and expands the potential spectrum of mutations associated with CDA III. Early recognition and long-term monitoring are essential for guiding management and monitoring complications such as iron overload and splenomegaly.