Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2015, Vol. 11 ›› Issue (02): 218 -223. doi: 10.3877/cma.j.issn.1673-5250.2015.02.015

Special Issue:

Original Article

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:
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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