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目的对3个泰国缺失型α地中海贫血家系进行分析及产前诊断。方法采集家系成员外周血进行血细胞分析及毛细管电泳血红蛋白分析;采集外周血及羊水、绒毛采用裂隙聚合酶链反应(GapPCR)以及PCR结合反向点杂交(PCR-RDB)方法进行常见6种α珠蛋白基因突变的鉴定;采用裂隙聚合酶链反应(Gap-PCR)方法进行泰国缺失型α地贫和菲律宾缺失型α地贫基因检测。结果在3个家系中检测到2例泰国缺失型α地中海贫血携带者(—~THAI)/αα)及1例泰国缺失型复合4.2缺失型α珠蛋白基因缺失导致的血红蛋白H病(—~THAI/-α~(4.2)),并对3个家系进行了产前诊断,检测到2个胎儿为泰国缺失型α地中海贫血携带者(—~(THAI)/αα)。结论MCV降低、Hb A_2降低而常规α地贫基因检测未见异常的人群,尤其是有水肿胎生育史的家庭需要引起临床医生的重视,要考虑到罕见缺失型α地中海贫血,对于常规检测提示为-α~(3.7)或-α~(4.2)纯合缺失而地贫筛查可疑HbH病者也要考虑罕见缺失型α地中海贫血的可能性,对高风险家庭要进行产前诊断对于优生优育具有重要意义。
Objective To analyze and prenatal diagnosis of three thalassemia-deficient α-thalassemia pedigrees. Methods Blood samples were collected from peripheral blood of the pedigrees and hemoglobin analysis by capillary electrophoresis. Peripheral blood and amniotic fluid were collected. Gap PCR (PCR) and PCR-RDB Protein gene mutations were identified. The Gap-PCR method was used to detect the gene deletion of Thalassemia thalassemia and the Philippines. Results Two cases of thalassemia α - thalassemia (- THAI) / αα) and one case of thalassemia deletion type 4.2 deletion α - globin gene deletion in hemoglobin H disease (- THAI / - α ~ (4.2)). Prenatal diagnosis was performed on 3 pedigrees. Two fetuses were detected as thalassemia-deficient carriers (~ THAI / αα) in Thailand. Conclusions MCV is reduced, Hb A 2 is decreased, but there is no abnormality in routine α thalassemia. In particular, families with history of ectopic fetal growth need clinicians’ attention, taking rare missing α-thalassemia into consideration. For the homozygous deletion of -α ~ (3.7) or -α ~ (4.2) and thalassemia screening for suspected HbH patients also consider the possibility of rare deletion of α-thalassemia, prenatal diagnosis of high-risk families for eugenics Fertility is of great significance.