1例罕见Hb H型水肿胎的遗传学效应分析  

Genetic effect analysis of a rare Hb H hydrops fetalis

作　　者：唐斌[1] 梁丽华 王继成[1] 陈柯艺 郭浩[1] Tang Bin;Liang Lihua;Wang Jicheng;Chen Keyi;Guo Hao(Medical Genetics Center of Guangdong Maternal and Child Health Hospital,Guangzhou 511400,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广州511400

出　　处：《中华地方病学杂志》2023年第12期994-998,共5页Chinese Journal of Endemiology

摘　　要：目的分析1例罕见血红蛋白(Hb)H型水肿胎[Hb Adana(HBA2:c.179 G>A)复合--^(SEA)/αα]的遗传学效应,为非缺失型Hb H病的临床诊断提供参考。方法采集于广东省妇幼保健院医学遗传中心就诊的孕妇及其丈夫外周血、胎儿脐带血进行血液学表型[平均红细胞体积(MCV)、平均红细胞血红蛋白含量(MCH)、Hb含量]及Hb分型分析;应用PCR-流式荧光杂交法进行α-地中海贫血(简称地贫)、β-地贫基因常规缺失及突变分析,DNA测序分析突变类型。结果孕妇MCV为85.1 fl、MCH为27.3 pg,Hb含量为109 g/L;胎儿MCV为116.3 fl、MCH为32.6 pg,Hb含量为28 g/L。孕妇及其丈夫Hb毛细管电泳均未见异常,胎儿可见Hb Bart′s及微量Hb Epsilon4区带。常规地贫基因检测结果显示,孕妇及其丈夫、胎儿地贫基因型分别为αα/αα、--^(SEA)/αα、--^(SEA)/αα。经DNA测序分析,孕妇为HBA2:c.179 G>A杂合突变,胎儿为HBA2:c.179 G>A突变。结论胎儿水肿是由于HBA2:c.179 G>A复合--^(SEA)/αα引起的,该类型突变在中国人群中属于罕见型。Objective To analyze the genetic effects of a rare hemoglobin(Hb)H hydrops fetalis[Hb Adana(HBA2:c.179 G>A)complex--^(SEA)/αα],and provide a reference for clinical diagnosis of non deletion Hb H disease.Methods Peripheral blood of pregnant women from Medical Genetics Center of Guangdong Maternal and Child Health Hospital and her husbands,fetal umbilical cord blood samples were collected for hematological phenotypes[mean corpuscular volume(MCV),mean corpuscular hemoglobin content(MCH),Hb content]and Hb typing analysis.PCR flow cytometry fluorescence hybridization was used to analyze routine deletions and mutations ofα-,β-thalassemia genes,and DNA sequencing was used to analyze mutations.Results The pregnant women had an MCV of 85.1 fl,MCH of 27.3 pg,and Hb content of 109 g/L;the fetal MCV was 116.3 fl,MCH was 32.6 pg,and Hb content was 28 g/L.Both the pregnant woman and her husband showed no abnormalities in Hb capillary electrophoresis,while the fetus showed Hb Bart's and trace Hb Epsilon4 bands.The results of routine genetic testing for thalassemia showed that the thalassemia genotypes of pregnant women,her husband,and fetus wereαα/αα,--^(SEA)/αα,and--^(SEA)/αα,respectively.According to DNA sequencing analysis,pregnant women was HBA2:c.179 G>A heterozygous mutation,fetus was HBA2:c.179 G>A mutation.Conclusions Hydrops fetalis is caused by HBA2:c.179 G>A complex--^(SEA)/αα.However,this type of mutation is rare in the Chinese population.

关 键 词：地中海贫血 罕见型 血红蛋白 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]