获得性再生障碍性贫血患者端粒-端粒酶活性的变化及其意义  

Changes of telomere-telomerase activity in patients with acquired aplastic anemia

作　　者：宋佳音[1] 王耀春[1] 肖扬[1] 

机构地区：[1]广州军区广州总医院血液科,广州510010

出　　处：《临床血液学杂志》2013年第1期67-71,共5页Journal of Clinical Hematology

摘　　要：端粒是近年来生命科学研究的热点之一,随着相关研究的不断深入,已逐渐引起国内外血液病工作者的关注。端粒长度缩短和端粒酶相关基因突变可以导致造血干细胞衰老,严重影响造血干细胞的植入效率,是骨髓衰竭性疾病的发病原因之一。根据疾病的成因不同,骨髓衰竭性疾病可分为先天性和获得性两大类,To summarize the research progress of telomere length and telomerase activity in acquired aplastic anemia（aAA）.A full text database system based on PUBMED and CNKI was adopted for searching relevant literature from 1996to 2012with the key words of ＂ telomere,telomerase and acquired aplastic anemia ＂.Criterion for data selection ： The literature about advances of telomere,telomerase and acquired aplastic anemia was selected for analysis.According to the standard,236articles were analyzed.Acquired aplastic anemia is bone marrow failure syndromes that mainly results from immune-mediated destruction of hematopoiesis.About one-third of patients with aAA have short telomeres in peripheral white blood cells,some of which have heterozygous mutations in genes encoding the telomerase components of TERT or TERC.Clinical observation found that most aAA patients with telomere shortening were insensitive to immunosuppressive therapy;the disease duration increased and the prognosis was poor.Short telomeres may cause malignant clonal diseases in the advanced stage,such as MDS,AML.Treatment plan for these aAA patients with shortening telomere should be adjusted.They must undergo haematopoietic stem cell transplant（HSCT） as soon as possible,and family donors with relevant mutations must be avoided.The aAA patients with telomere related abnormality are different from other patients regarding pathological mechanism,disease progress,treatment and prognosis.Only a small proportion of these cases could be explained by TERT or TERC mutation.Other mutation or causes may remain unknown.

关 键 词：贫血 再生障碍性 端粒 端粒酶 造血干细胞移植 骨髓衰竭性疾病 

分 类 号：R556[医药卫生—血液循环系统疾病]