[Congenital dyserythropoietic anemia type II: a case report and literature review].
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.
Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin, China.
Yuan
Y
Li
Xin
X
Zhao
Kang
K
Zhou
Yang
Y
Li
Jian-ping
JP
Li
Lei
L
Ye
Guang-xin
GX
Peng
Hui-hui
HH
Fan
Li-ping
LP
Jing
Li
L
Zhang
Feng-kui
FK
Zhang
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D033921:Vesicular Transport Proteins / Q000235:genetics
C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins