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中华妇幼临床医学杂志(电子版) ›› 2015, Vol. 11 ›› Issue (02) : 218 -223. doi: 10.3877/cma.j.issn.1673-5250.2015.02.015

所属专题: 文献

论著

中间型地中海贫血的诊断分析及文献复习
李欣瑜1, 刘勇1, 许吕宏1, 方建培1,*,*()   
  1. 1. 510120 广州,中山大学孙逸仙纪念医院儿科
  • 收稿日期:2014-12-11 修回日期:2015-02-20 出版日期:2015-04-01
  • 通信作者: 方建培

Case report of thalassemia intermedia genotypes and literatures review

Xinyu Li1, Yong Liu1, Lyuhong Xu1, Jianpei Fang1()   

  1. 1. Department of Pediatrics, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, 510120 Guangzhou, Guangdong Province, China
  • Received:2014-12-11 Revised:2015-02-20 Published:2015-04-01
  • Corresponding author: Jianpei Fang
  • About author:
    Corresponding author: Fang Jianpei, Email:
引用本文:

李欣瑜, 刘勇, 许吕宏, 方建培. 中间型地中海贫血的诊断分析及文献复习[J/OL]. 中华妇幼临床医学杂志(电子版), 2015, 11(02): 218-223.

Xinyu Li, Yong Liu, Lyuhong Xu, Jianpei Fang. Case report of thalassemia intermedia genotypes and literatures review[J/OL]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2015, 11(02): 218-223.

目的

探讨中间型地中海贫血的临床诊治思路。

方法

选择2012年3月15日及2013年4月29日在中山大学孙逸仙纪念医院就诊并确诊为中间型地中海贫血的2例患儿为研究对象,结合相关文献复习其临床表现、治疗及转归。本研究遵循的程序符合中山大学孙逸仙纪念医院人体试验委员会制定的伦理学标准,得到该委员会批准,并与受试对象监护人签署临床研究知情同意书。对2例患儿行入院检查,并对其珠蛋白基因变异类型进行检测。

结果

患儿1为3岁,女性,临床表现为面色苍白2年,患儿腹部出现包块并逐渐增大1年。采用PCR结合DNA序列测定等方法行罕见型突变检测,确诊为β地中海贫血基因(β珠蛋白CD41/42基因缺失突变型)杂合子合并α地中海贫血基因(αααanti3.7基因重排)杂合子。患儿2为5岁,男性,临床表现为面色苍白4年。通过毛细管电泳及基因突变检测,确诊为HbH-CS病。

结论

中间型地中海贫血的诊断需考虑多种基因变异因素对临床表现的影响,毛细管电泳与基因序列分析在诊断中间型地贫中结合使用具有重要的应用价值。

Objective

To inquire the effective diagnosis process on Thalassemia intermedia.

Methods

Two cases of Thalassemia Intermedia reported by Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University at March 15th, 2012 and April 29th, 2013 were reviewed. The clinical manifestations, diagnosis methods and treatments were analyzed and summarized. The study protocol was approved by the Ethical Review Board of Sun Yat-Sen Memorial Hospital of Sun Yat-Sen University. Informed consent was obtained from the parents of those children. Admission examination and gene mutation detection of globin were performed for 2 children.

Results

Case 1, a 3-year-old girl, presented pallor for more than 2 years and progressively enlarged abdominal mass for more than 1 year. She was confirmed as heterozygosis for β-globin mutation with α-globin gene triplication by PCR and DNA sequencing. Case 2, a 5-year-old boy, presenting pallor for 4 years, was diagnosed as the HbH-CS disease by the combination of capillary electrophoresis and genetic screening.

Conclusions

When it comes to thalassemia intermedia, gene mutations that change the clinical manifestations should be considered. Appropriate access to the capillary electrophoresis and the gene diagnostic techniques do great help to the confirmation of thalassemia intermedia.

图1 患儿1β珠蛋白基因的反向点杂交结果,显示患儿为β珠蛋白基因41/42突变的杂合子
Figure 1 Result of β-hemoglobin gene PCR-reverse dot blot of case 1
图2 多重PCR方法检测患儿1αααanti3.7的PCR产物电泳图(M:DNA ladder;1, 2, 3分别代表患儿及2个正常对照的扩增DNA;2 503 bp条带作为内参;1 932 bp条带表明存在αααanti3.7特异性片段)
Figure 2 Electrophoresis of PCR products of αααanti3.7 gene from case 1 by multiplex PCR
图3 患儿1αααanti3.7扩增产物的部分测序结果显示扩增产物为αααanti3.7特异性片段(图3A:AT-3.7F引物附近的部分序列图,该序列位于α1-珠蛋白基因的5′端上游;图3B:AT-3.7R引物附近的部分序列图,该序列位于α2-珠蛋白基因的3′端)
Figure 3 Partial sequencing results of αααanti3.7 expanding products from case 1
图4 患儿2父亲血红蛋白毛细管电泳结果
Figure 4 Result of hemoglobin electrophoresis from father of case 2
图5 患儿2母亲血红蛋白毛细管电泳结果
Figure 5 Result of hemoglobin electrophoresis from mother of case 2
图6 患儿2血红蛋白毛细管电泳结果
Figure 6 Result of hemoglobin electrophoresis from case 2
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