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  • Title: [Congenital dyserythropoietic anemia type II: a case report and literature review].
    Author: Li Y, Zhao X, Zhou K, Li Y, Li JP, Ye L, Peng GX, Fan HH, Jing LP, Zhang L, Zhang FK.
    Journal: Zhonghua Xue Ye Xue Za Zhi; 2012 Apr; 33(4):270-3. PubMed ID: 22781715.
    Abstract:
    OBJECTIVE: To investigate the clinical and laboratory features of congenital dyserythropoietic anemia type II (CDA-II) in order to improve the recognition of the disease. METHODS: A case of CDA-II was reported and the related literatures were reviewed. RESULTS: The 32-years old female presented with moderate anemia, jaundice and hepatosplenomegaly from her childhood and was misdiagnosed as hereditary spherocytosis for a long time. There were no increased reticulocytes in the peripheral blood and her bone marrow showed erythroid hyperplasia with 43% of binucleated erythroblasts. Electron microscopy examination revealed stretches of double membrane lining the inner surface of the erythroblast cell membrane. CONCLUSIONS: CDA-II is a rare congenital anemia characterized by ineffective erythropoiesis with unique laboratory features, and is relatively easy to be misdiagnosed. It is necessary to improve the awareness of CDA-II, and to set-up its responsible gene analysis, i.e., CDAN2 gene and SEC23B gene detection.
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