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[Clinical and hematological features of congenital dyserythropoietic anemia type I].

AbstractOBJECTIVE:
To analyze the clinical and laboratory features of patients with congenital dyserythropoietic anemia type I (CDA-I), and improve the clinical diagnostic accuracy.
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.
AuthorsHui-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
JournalZhonghua 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
PMID19951529 (Publication Type: English Abstract, Journal Article)
Topics
  • Adolescent
  • Adult
  • Anemia, Dyserythropoietic, Congenital (blood, diagnosis)
  • Female
  • Humans
  • Male
  • Retrospective Studies
  • Young Adult

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