Congenital dyserythropoietic anemia type II: a case report and literature review / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical and laboratory features of congenital dyserythropoietic anemia type II (CDA-II) in order to improve the recognition of the disease.</p><p><b>METHODS</b>A case of CDA-II was reported and the related literatures were reviewed.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>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.</p>