A Rare Case of CDA Type 2 in a Young Female Child

Background: Congenital dyserythropoietic anemia (CDA) type II is a rare inherited disorder caused by mutations in the SEC23B gene and characterized by ineffective erythropoiesis and chronic hemolytic anemia. A 13-year-old female born of a second-degree consanguineous marriage presented with recurrent jaundice, abdominal pain, and transfusion-dependent anemia since infancy. She had a history of neonatal jaundice and was previously treated as a case of nutritional anemia without definitive evaluation. Examination revealed pallor, icterus, hepatosplenomegaly, and facies suggestive of chronic hemolysis. Laboratory findings showed severe anemia, indirect hyperbilirubinemia, hemolysis, and iron overload, while hemoglobin electrophoresis excluded hemoglobinopathies. Clinical exome sequencing identified a homozygous missense mutation in the SEC23B gene (c.880G>T; p.Gly294Cys), confirming CDA type II. The patient was managed with antibiotics, vitamin B12 supplementation, and PRBC transfusions, followed by regular transfusion support with symptomatic improvement. This case emphasizes the importance of early genetic testing in chronic hemolytic anemia for timely diagnosis and appropriate management.

Keywords: Anemia, blood transfusion, hemolysis, hepatosplenomegaly, iron overload.