摘要
目的报道1例携带SEC23B新发突变位点并经异基因全相合造血干细胞移植成功治疗的先天性红细胞生成异常性贫血(congenital dyserythropoietic anemia, CDA)Ⅱ型病例,丰富此类疾病的基因突变位点及治疗经验。方法对1例血红蛋白降低3个月的CDAⅡ型婴儿及其家系进行SEC23B基因检测,报道该例患儿临床诊疗过程并对相关文献进行复习。结果患儿,女性,5月龄,因"发现血红蛋白降低3个月"就诊。血常规示HGB 44 g/L,酸溶血试验(Ham试验)阳性。骨髓象示红系占0.690,以中晚幼红细胞为主,可见双核及奇数核红细胞,有核红细胞偶见核碎裂及核出芽;骨髓透射电镜可见有核红细胞典型的双层膜结构。SEC23B基因存在两个未报道的新发突变位点,分别为c.1504 G>C/wt、c. 2254-2255 insert A/wt,两个突变分别来源于患儿父亲与母亲。患儿接受异基因全相合造血干细胞移植治疗后原有突变转阴。结论该例患者为国内首次报道SEC23B基因插入突变CDAⅡ型病例,异基因全相合造血干细胞移植可作为CDAⅡ型的治疗选择。
Objective 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).Methods 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.Results 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 membrane structure of nuclear erythrocytes.There were two unreported new mutation sites in the SEC23B gene,including 1504 G > C/wt and c.2254-2255 insert A/wt.The two mutations were derived from the father and mother of the child respectively.At the late stage,the child was successfully treated with allo-HSCT,the original mutation turned negative.Conclusion This study reported the mutation type of SEC23B gene insertion for the first time in China.Allo-HSCT could be utilized as a treatment for CDA.
作者
常丽贤
竺晓凡
王永伟
董树旭
赵轼轩
茹永新
Chang Lixian;Zhu Xiaofan;Wang Yongwei;Dong Shuxu;Zhao Shixuan;Ru Yongxin(Institute of Hematology,Chinese Academy of Medical Sciences,Tianjin 300020,China;State Key Laboratory of Biological Macromolecules,Institute of Biophysics,Chinese Academy of Sciences,Beijing 100101,China)
出处
《中华血液学杂志》
CAS
CSCD
北大核心
2019年第4期317-320,共4页
Chinese Journal of Hematology
基金
国家自然科学基金(81500156、81170470、81670112)
国家重点研发计划(2016YFC0901503).
