...
首页> 外文期刊>Taiwanese journal of obstetrics and gynecology >Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) ( HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study
【24h】

Genetic counseling and prenatal decision for hemoglobin H disease caused by the rare α2 codon 30 (-GAG) ( HBA2: c.91_93delGAG) mutation and the SEA deletion: Case series study

机译:稀有α2密码子30(-GAG)引起的血红蛋白H病的遗传咨询和产前决策( HBA2 :C.91_93delgag)突变和海缺失:案例系列研究

获取原文
           

摘要

ObjectiveWe report a rare mutation on the α2-globin gene,HBA2: c.91_93delGAG and its potential functions.Case ReportWe mainly described four patients with hemoglobin (Hb) H disease caused by the rare mutation and the SEA deletion but diversity in clinical presentation. Two had survived to adulthood with normal physical and mental development, except for mild anemia. However, two were children, who had more severe clinical manifestations. One child had developmental disorders of speech and language and mild growth retardation, and the other child suffered from severe hemolytic crises precipitated by infection and received blood transfusion.ConclusionThis study is of great significance for clinicians to provide genetic counseling to couples at-risk of having offspring with Hb H disease and let them make the pregnancy decision, particularly reduce the occurrence of severe Hb H disease.
机译:目标网报告α2-珠蛋白基因的罕见突变,HBA2:C.91_93DelGAG及其潜在功能。Case报告主要描述了由罕见突变和海缺失引起的血红蛋白(HB)H病的四名患者,但临床介绍的多样性。 除了轻度贫血外,两人都幸存到成年性的身体和精神上的发展。 然而,两名儿童有更严重的临床表现。 一个孩子具有言语和语言和轻度生长迟缓的发育障碍,另一个孩子受到感染沉淀的严重溶血性危机,并且接受了患者对临床医生具有重要意义,为夫妻提供遗传咨询的临床咨询 HB H病的后代,让它们使妊娠决定,特别是减少严重HB H病的发生。

著录项

相似文献

  • 外文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号