AI Article Synopsis
- The study aims to enhance recognition of congenital dyserythropoietic anemia type II (CDA-II) by examining its clinical and laboratory features.
- A case involving a 32-year-old woman showed symptoms of moderate anemia and jaundice, initially misdiagnosed as hereditary spherocytosis; lab findings revealed unique erythroblast characteristics.
- The research highlights the rarity of CDA-II, emphasizes the importance of awareness and diagnosis, and suggests gene analysis for CDAN2 and SEC23B as crucial for identifying the condition.
Article 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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