Diagnosis: Congenital Dyserythropoietic Anemia Type 2 Due to Compound Heterozygote Mutation in SEC23B Gene

Figure 1. A and B: Marked dyserythropoiesis, nuclear bridging, binucleation, and multinucleation of the erythroid precursors. A 14-year-old female patient was admitted to our hospital because of paleness and icterus. She had been investigated at different centers for chronic anemia, icterus, and splenomegaly since age 6. She had no history of blood transfusion, drug usage, or fever. There was no consanguinity between parents, and our patient's sister had similar clinical findings. On physical examination she was pale and icteric and she had markedly enlarged liver and spleen, 3 cm and 8 cm below the costal margins, respectively. Respiratory, cardiovascular, musculoskeletal, and other examinations were normal. Informed consent was obtained. and platelets: 383x10 9 /L. Reticulocyte count was 3.4% and peripheral blood smear revealed anisocytosis and poikilocytosis. The liver and kidney function test results were within normal limits. Serum total and indirect bilirubin and LDH levels were 5.22 mg/dL, 0.46 mg/dL, and 545 IU/L respectively. Direct Coombs test was negative. Hemoglobin electrophoresis, pyruvate kinase and G6PD, vitamin B12, and folic acid levels were normal. She was immune to HBV infection and her serological tests were negative for HCV and HIV. Bone marrow examination under light microscopy showed erythroid hyperplasia, with binucleated or multinucleated and megaloblastic normoblasts (Figures 1A and 1B):