LAUSR

Dear Editor, Congenital dyserythropoietic anemia is a rare hematologic disease and frequently misdiagnosed [1]. Here we report a case of congenital anemia with the bone marrow mimicking myelodysplasia syndrome. The case is finally diagnosed as congenital dyserythropoietic anemia type I (CDA I) with a novel CDAN1 gene mutation identified [2]. The 4-year-old boy was diagnosed as neonatal hyperbilirubinemia and received exchange transfusion twice soon after birth. He was noticed to have a consistent anemia and admitted to a local hospital 1 month later. The bone marrow aspiration showed hypercellularity due to granulocytic and erythroid hyperplasia. Megaloblastoid aberrations were seen in erythroblasts. And 2% sideroblast cells were found. He was diagnosed as provisional congenital hemolytic anemia and discharged without any medication. After admission to our pediatric hematology department, the patient received a comprehensive test to find the cause of the anemia. During physical examination, anemia appearance, mild splenomegaly, and hepatomegaly were found. There were no apparent facial or skeletal abnormalities. The physical development was slightly delayed. The whole blood count revealed a normocytic anemia, with the red blood cell count 2.35 × 10/μL, hemoglobin 7 g/dL, and the reticulocyte 0.080 × 10/μL. Serum ferritin was 658.3 μg/L. Total bilirubin was 31.4 μmol/L with indirect bilirubin 22.7 μmol/L. Folic acid and vitamin B12 levels were normal. HbF was 3.20%. HbA2 was 2.79%. And the following tests returned normal or negative: the Coombs test, the fluorescent spot test, the H inclusion test, the Ham test, the Heinz body formation test, the hemoglobin electrophoresis test, the isopropanol precipitation test, the methemoglobin reduction test, the osmotic fragility test, and the urine Rous test. The blood smear showed anisopoikilocytosis with basophilic stippled erythrocytes and Cabot rings. A second bone marrow smears (Fig. 1) displayed multilineage dysplasia. Erythroid dysplasia accounted for 26%, with marked morphological aberrations including biand multinuclearity, nuclear lobulation, fragmentation, and Howell-Jolly bodies. Granulopoietic dysplasia included hypergranularity, binuclearity, and megaloblastoid features, accounting for 20%. In megakaryocytopoiesis, a few micromegakaryocytes with one small round nuclei were observed. The cytogenetic test found a loss of fraction at chr22:51,104,038-51,150,919(hg19). This loss (22q13.33) was relevant to 22q13.3 deletion syndrome. However, the patient’s mutant region (47Kb) was smaller than reported cases and no typical manifestations of this syndrome were observed. A hematology and immunology diseases gene panel testing was also performed on blood cells by high-throughput