Abstract | OBJECTIVE: METHODS: The clinical and hematological features of 5 patients diagnosed as CDA-I in our hospital between July 2002 and July 2007 were analyzed retrospectively, and the related literatures was reviewed. RESULTS: Five CDA-I patients, 1 male and 4 females, all had a long history of varied degree of chronic anemia. One patient had congenital malformations, 3 jaundice and 4 hepatosplenomegaly. Bone marrow specimens invariably showed hypercellularity due to erythroid hyperplasia with megaloblastic changes, irregularly shaped nuclear, and chromatin bridges in 0.2% to 0.6% of all erythroblasts. All the 5 patients' bone marrow erythroblasts showed spongy heterochromatin appearances (swiss-cheese) with electron microscopy examination. There was no morphologic abnormality in the granulocytes and megakaryocytes. Serum ferritin levels were increased in 3/4 patients. One patient had been misdiagnosed as hereditary spherocytosis and performed splenectomy in the local hospital with no improvement in Hb level. CONCLUSIONS: CDA-I is a rare congenital anemia characterized by ineffective erythropoiesis, jaundice, hepatosplenomegaly and iron overload, and may be misdiagnosed. Keeping these manifestations in mind should avoid misdiagnosis.
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Authors | Hui-Jun Wang, Li Zhang, Kang Zhou, Li-Ping Jing, Dong-Lin Yang, Hong-Qiang Li, Qing-Guo Liu, Yong-Xin Ru, Yu-Lin Chu, Feng-Kui Zhang |
Journal | Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
(Zhonghua Xue Ye Xue Za Zhi)
Vol. 30
Issue 6
Pg. 377-80
(Jun 2009)
ISSN: 0253-2727 [Print] China |
PMID | 19951529
(Publication Type: English Abstract, Journal Article)
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Topics |
- Adolescent
- Adult
- Anemia, Dyserythropoietic, Congenital
(blood, diagnosis)
- Female
- Humans
- Male
- Retrospective Studies
- Young Adult
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