Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Viet Nam; Hospital of Post and Telecommunications, Hanoi, Viet Nam.
Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Viet Nam.
Taiwan J Obstet Gynecol. 2024 May;63(3):375-380. doi: 10.1016/j.tjog.2023.09.024.
α-thalassemia is an autosomal recessive monogenic blood disorder, affecting up to 5% of the world's population. The occurrence rate of the disease in Vietnam varies up to up to 51.5%, with high rate of mutation carriers, of couples consisting of two carriers at risk of bearing a child with fetal Hb Bart, which can develop into hydrops fetalis syndrome, threatening the well-being of the mother and the child. Our study aims to facilitate birth of healthy/asymptomatic children of α-thalassemia carrier couples who received reproductive service at our centre during the period of 2019-2022.
89 couples at risks of having α-thalassemia offsprings requested IVF procedures and PGD at Post Hospital during 2019-2022 were recruited for investigation. Couple and additional family members' peripheral blood samples of couples and additional family members were subjected to haemoglobin electrophoresis, DNA extraction for α-thalassemia gene mutation detection and STRs linkage analysis. Data were observed and analysed on GeneMarker software.
91 cycles of PGD for α-thalassemia were carried out for 89 couples. α-thalassemia large deletion (--/αα) was the most common mutation identified in 88 couples, in which 4 cases also carried β-thalassemia point mutations. Combining results of PGS and PGD, 278/424 amplified embryos were transferable (HBA-mutation free or carriers of single heterozygous HBA mutation, without chromosomal abnormality). 64/89 couples have been transferred with the embryos (prioritizing mutation free ones over carriers), resulting in the birth of 36 α-thalassemia disease-free children, 17 ongoing pregnancies, and 11 with miscarriages.
Successful application of microsatellite-based method in PGD facilitated the birth of 36 healthy children and 17 ongoing pregnancies for 53/64 couples with embryo-transferred. All resulted clinical births displayed confirmation results in line with the PGD results, thus demonstrating the feasibility and credibility of the use of STR markers in PGD.
α-地中海贫血是一种常染色体隐性单基因血液疾病，影响全球多达 5%的人口。越南的疾病发生率高达 51.5%，突变携带者的发生率很高，对于由两名携带者组成的夫妇来说，他们有风险生育胎儿 Hb Bart 的孩子，这可能发展为胎儿水肿综合征，威胁到母亲和孩子的健康。我们的研究旨在为 2019-2022 年在我们中心接受生殖服务的α-地中海贫血携带者夫妇生育健康/无症状的孩子提供便利。
2019-2022 年，有 89 对夫妇有生育α-地中海贫血后代的风险，他们在宝华医院要求进行体外受精（IVF）和胚胎植入前遗传学诊断（PGD）。对夫妇及其额外家庭成员的外周血样本进行血红蛋白电泳、α-地中海贫血基因突变检测和 STRs 连锁分析。数据在 GeneMarker 软件上进行观察和分析。
为 89 对夫妇进行了 91 个周期的 PGD 以诊断α-地中海贫血。在 88 对夫妇中，最常见的突变是α-地中海贫血大片段缺失（--/αα），其中 4 例还携带β-地中海贫血点突变。结合 PGS 和 PGD 的结果，可移植的 278/424 个扩增胚胎（无 HBA 突变或单杂合 HBA 突变的携带者，无染色体异常）。64/89 对夫妇已进行胚胎移植（优先选择无突变的胚胎而不是携带者），共生育 36 名无α-地中海贫血疾病的儿童、17 例持续妊娠和 11 例流产。
微卫星方法在 PGD 中的成功应用促进了 53/64 对有胚胎移植的夫妇生育 36 名健康儿童和 17 例持续妊娠。所有的临床分娩结果都与 PGD 结果相符，证实了 STR 标记物在 PGD 中的可行性和可信度。
