[Congenital dyserythropoietic anemia type II: a case report and literature review].
Zhonghua Xue Ye Xue Za Zhi
; 33(4): 270-3, 2012 Apr.
Article
em Zh
| MEDLINE
| ID: mdl-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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anemia Diseritropoética Congênita
Tipo de estudo:
Systematic_reviews
Limite:
Adult
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Xue Ye Xue Za Zhi
Ano de publicação:
2012
Tipo de documento:
Article