A Case of Congenital Dyserythropoietic Anemia Type-II Relieved From Transfusion-Dependency by Splenectomy

Abstract

We report a case of congenital dyserythropoietic anemia (CDA) type-II relieved from transfusion-dependency by splenectomy. A 1,224 g female infant was born at 28 weeks and 5 days of gestation by cesarean section due to nonreassuring fetal status. After birth, she suffered from severe anemia. She was suspected to have CDA by detailed examination, and underwent repeated transfusion. Finally she was diagnosed as CDA type-II from genetic analysis at age 2 years. Anemia caused by ineffective erythropoiesis required frequent transfusions. Her splenomegaly and gallstone appeared at age 2 years and 5 months. Splenectomy and cholecystectomy were performed at age 3 years. The spleen was 370 g in weight. Postoperative histopathological examination confirmed the diagnosis of severe hemostasis and hemosiderosis, suggesting hypersplenism as the cause. She was discharged 8 days after surgery. Postoperative course was uneventful and she was relieved from transfusion.