New mutation site of SEC23B gene in type Ⅱ congenital erythrocythememia anemia: one case report and literatures review

• Published in: Zhōnghuá xuèyèxué zázhì Vol. 40; no. 4; pp. 317 - 320
• Main Authors: Chang, L X, Zhu, X F, Wang, Y W, Dong, S X, Zhao, S X, Ru, Y X
• Format: Journal Article
• Language: Chinese
• Published: China 14-04-2019
• Subjects: Anemia, Dyserythropoietic, Congenital - genetics; China; Erythroblasts; Female; Humans; Mutation; Vesicular Transport Proteins - genetics; China; Congenital dyserythropoietic anemia; Hematopoietic stem cell transplantation; Gene, SEC23B
• ISSN: 0253-2727
• DOI: 10.3760/cma.j.issn.0253-2727.2019.04.010

To enrich the gene mutation sites and accumulate treatment experience of congenital dyserythropoietic anemia (CDA) type Ⅱ by reporting one case of CDA patient with new mutation site of SEC23B and was successfully treated by homozygous allogeneic hematopoietic stem cell transplantation (allo-HSCT) .
The mutation within SEC23B gene in a child case with the reduced hemoglobin for more than 3 months, and his family were analyzed in combination with literatures review.
A 3-day 5-month female child was admitted due to "decreasing hemoglobin for more than 3 months" , blood routine test showed HGB 44 g/L, positive for acid hemolysis test (Ham test) . Bone marrow showed that the proportion of erythroid line was 69%, mainly middle and late juvenile erythrocytes, binuclear and odd nucleated erythrocytes could be observed, and nuclear fragmentation and nuclear budding could be seen occasionally in nucleated erythrocytes, transmission electron microscopy disclosed that bone marrow harbored the typical double-layer membran