1例罕见型Hb Bart′s胎儿水肿综合征胎儿家系分析  

A pedigree analysis of a rare Hb Bart′s fetal edema syndrome

作　　者：陈唯 陈洁 廖群英 CHEN Wei;CHEN Jie;LIAO Qunying(Genetics Clinical Laboratory,Maternity and Child Care Hospital ofWuzhou City,Wuzhou,Guangxi 543002,China)

机构地区：[1]广西壮族自治区梧州市妇幼保健院遗传实验室

出　　处：《检验医学与临床》2019年第19期2753-2755,2760,共4页Laboratory Medicine and Clinic

基　　金：广西壮族自治区梧州市科学技术局科研立项课题(201902224)

摘　　要：目的对罕见型血红蛋白(Hb)Bart′s胎儿水肿综合征胎儿家系进行地中海贫血表型和地中海贫血基因分析,以及产前诊断。方法采集家系成员外周血进行血细胞检查及Hb组分分析;采集家系成员外周血及胎儿羊水采用Gap-PCR及PCR-反向点杂交法进行4种α-缺失型地中海贫血、3种α-非缺失型地中海贫血及17种β-地中海贫血基因检测。结果血液学表型分析显示,先证者母亲及父亲均为小细胞低色素性贫血患者。先证者母亲检出泰国型缺失(--THAI/αα)杂合突变;先证者父亲检出东南亚型缺失(--SEA/αα)杂合突变;先证者兄长地中海贫血基因检测未见异常;先证者检出东南亚型缺失合并泰国型缺失(--SEA/--THAI)双重杂合突变,为HbBart′s胎儿水肿综合征。结论应严格遵循血液学表型与地中海贫血基因型相结合的分析原则,对平均红细胞体积、平均红细胞血红蛋白含量降低和HbA2正常或偏低,而常规α-地中海贫血基因检测未见异常的人群进行罕见型泰国型缺失(--THAI/)α-地中海贫血检测,以预防漏检和误诊。Objective To analyze the phenotype,gene and prenatal diagnosis of thalassemia in a rare family with Hb Bart′s fetal edema syndrome.Methods The peripheral blood of family members were collected for hematological examination and hemoglobin component analysis.The peripheral blood and amniotic fluid of family members were collected for 4 types ofα-deletion thalassemia by Gap-PCR and PCR reverse dot blot.And 3 types ofα-non-deletion and 17 types ofβ-deletion genes were detected.Results Hematological phenotype analysis showed that the mother and father of the proband were all small cell hypochromic anemia.The mother of proband was detected as Thailand deletionα-thalassemia(--THAI/αα)heterozygous mutation,the father of proband was detected as SEA deletionα-thalassemia(--SEA/αα)heterozygous mutation,no abnormality was found in the brother of the proband,the proband was detected as a double heterozygous mutation(--SEA/--THAI),who was Hb Bart′s fetal edema syndrome.Conclusion It is necessary to strictly follow the analysis principle of combining hematological phenotype with the genetype of agranulocytosis.It is necessary to detect the rare typeα-thalassemia in the population with low level of MCV and MCH,and low or normal level of HbA2,and without abnormal detection result of routineα-thalassemia gene,which can prevent missed diagnosis and misdiagnosis.

关 键 词：泰国型缺失α-地中海贫血 罕见型 HbBart′s胎儿水肿综合征 家系分析 

分 类 号：R556.5[医药卫生—血液循环系统疾病]