[1]唐海深*,万志丹,张艳芳,等.2例未知基因型地中海贫血的产前诊断[J].中国计划生育和妇产科,2017,(2):64-67.
　TANG Hai-shen*,WAN Zhi-dan,ZHANG Yan-fang,et al.Prenatal diagnosis of 2 cases of unknown genotype thalassemia[J].Chinese Journal of Family Planning & Gynecotokology,2017,(2):64-67.
点击复制

2例未知基因型地中海贫血的产前诊断
分享到：

《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2017年2期
页码:
64-67
栏目:
论著与临床
出版日期:
2017-02-25

文章信息/Info

Title:
Prenatal diagnosis of 2 cases of unknown genotype thalassemia
作者:
唐海深*; 万志丹; 张艳芳; 王德刚; 陆林苑
广东中山市博爱医院
Author(s):
TANG Hai-shen*; WAN Zhi-dan; ZHANG Yan-fang; WANG De-gang; LU Lin-yuan
Prenatal Diagnosis Department，Bo’ai Hospital of Zhongshan, Zhongshan Guangdong 528400，P.R.China
关键词:
地中海贫血; 未知; 罕见; 基因
Keywords:
thalassemia;  unknown;  rare;  gene
分类号:
R 714.55
摘要:
目的探讨罕见未知基因型地中海贫血（以下简称地贫）的筛查、诊断与产前诊断，减少地贫的漏诊及误诊率，防止重型地贫患儿的出生。方法对中山市博爱医院产前诊断中心检查的2个家庭中通过血常规及血红蛋白电泳筛查可疑地贫的病例，采用gap- PCR、多重PCR及反向斑点杂交技术检测3种常见α-地贫基因缺失、4种少见缺失型α-地贫基因、3种常见的非缺失型α-地贫基因及17种常见β-地贫基因点突变，采用α-珠蛋白基因（α-基因）及β-珠蛋白基因（β-基因）DNA测序检测罕见致病突变。对血液学表型与基因型不符，疑存在未知地贫基因型的病例进行分析。结果2个家庭先证者均有血液学表型与基因型不符情况，经分析：常规α-基因检测结果为--SEA/--SEA的先证者1为未知α-基因缺失合并东南亚型缺失的HbH病；常规β-基因检测结果为βCD41-42/βCD41-42的先证者2为未知β-基因缺失合并βCD41-42点突变所致的重型β-地贫，其母亲为未知β-基因缺失杂合子，胎儿为正常或者未知β-基因缺失杂合子。 结论地贫基因检测结果应结合血液学表型分析，防止误诊。某些未知基因型的罕见地贫仍可行产前诊断，防止重型地贫儿的出生。
Abstract:
ObjectiveTo explore the methods for screening, diagnosis and prenateal diagnosis about unknown genotype thalassemia，and to reduce the misdiagnosis rate and to prevent the birth of children with severe thalassemia because of missed diagnosis. MethodsBlood screening and automatic capillary electrophoresis were used in two families who examined in Bo’ai Hospital of Zhongshan. For suspected members, we used gap-PCR to detect 3 most common deletional α-thalassemia, then used PCR-RDB to detect 3 most common non-deletional α-thalassemia and 17 kinds of β-globin gene mutation. We used gene sequencing for the whole α-globin gene and β-globin gene to detect rare mutation. Cases suspected of the presence of unknown thalassemia genetypes were analyzed. ResultsBoth families of probands have hematological phenotypes do not correspond to genes. Proband 1 with general gene result --SEA/--SEA was suffering from HbH disease in fact, which was composed of unknown α-gene deletion and Southeast Asia deletion. Proband 2 with general gene result βCD41-42/βCD41-42 was suffering from transfusion-dependent β-thalassemia, which was composed of unknown β-gene deletion and βCD41-42 mutation. The mother was a heterozygote lacleing the unlenown gene, the fetus was normal or unknown β-gene deleted heterozygotes. ConclusionTo prevent misdiagnosis and birth defects about babies with transfusion-dependent thalassemia, gene test results should be combined with hematological phenotype analysis, and prenateal diagnosis should be taken for rare thalassemia even if they’re unknown genotypes.

参考文献/References:

［1］李志玖，郑芳，燕平跨越断裂位点PCR检测α-地中海贫血基因缺失 ［J］郧阳医学院学报，2009，28（5）：451-452, 456 ［2］郭广洲，陈延娥，廖生赟，等应用反向点杂交法检测α-地中海贫血点突变 ［J］热带医学杂志，2008，8（8）：785-787 ［3］TAN A-s, QUAH T C, LOW P S, et al Arapidand reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia ［J］ Blood, 2001, 98 (1)： 250-251 ［4］COUSENS N E, GAFF C L, METCALFE S A, et al Carrier screening for beta-thalassaemia: a review of international practice ［J］. European Journal of Human Genetics： EJHG, 2010, 18 (10)： 1077-1083. ［5］张俊武，龙桂芳血红蛋白与血红蛋白病 ［M］南宁：广西科学技术出版社，2003：205-207 ［6］唐海深，江陵，陆林苑，等罕见α-地中海贫血的新生儿筛查与诊断 ［J］中国产前诊断杂志（电子版），2014，6（1）：13-17

相似文献/References:

[1]廖可中,黄秀红,谢染英,等.地中海贫血和葡萄糖6磷酸脱氢酶缺乏联合检测在孕前检查中的临床价值[J].中国计划生育和妇产科,2013,(03):0.
　LIAO Ke - zhong *,HUANG Xiu - hong,XIE Ran - ying ..[J].Chinese Journal of Family Planning & Gynecotokology,2013,(2):0.
[2]杨心琼,黄桥海,黄碧兰,等.广东省东源县已婚育龄夫妇地中海贫血发病率及基因型分布现况分析[J].中国计划生育和妇产科,2014,(05):0.
　YANG Xin-qiong,HUANG Qiao-hai,HUANG Bi-lan,et al.[J].Chinese Journal of Family Planning & Gynecotokology,2014,(2):0.
[3]吴志群,黄劲柏,苏明珍,等.基层育龄人群地中海贫血干预模式的探讨[J].中国计划生育和妇产科,2015,(06):0.
　WU Zhi-qun,HUANG Jin-bo,SU Ming-zhen,et al.[J].Chinese Journal of Family Planning & Gynecotokology,2015,(2):0.
[4]伍军平*,张金陶,钟景如.广州北部地区孕前夫妇地中海贫血筛查结果分析[J].中国计划生育和妇产科,2018,(5):81.
　WU Jun-ping*,ZHANG Jin-tao,ZHONG Jing-ru.Analysis of screening results of thalassemia among pre-pregnant couples in northern Guangzhou[J].Chinese Journal of Family Planning & Gynecotokology,2018,(2):81.
[5]潘玥*,葛会生,陈红.妊娠合并轻型地中海贫血补铁治疗的临床探讨[J].中国计划生育和妇产科,2019,(6):56.
　PAN Yue*,GE Hui-sheng,CHEN Hong.A clinical study of iron supplementation in pregnant women with mild thalassemia[J].Chinese Journal of Family Planning & Gynecotokology,2019,(2):56.

备注/Memo

备注/Memo:
中山市科技计划项目（项目编号：2014A1FC009）
更新日期/Last Update: 2017-02-25