{"title":"Preimplantation Genetic Diagnosis for Beta Thalassemia","authors":"Faravareh Khordadpoor Deilamani, M. Akbari","doi":"10.5812/jhgg.109503","DOIUrl":null,"url":null,"abstract":"Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesis and bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affected pregnancy to have a healthy child. Objectives: Here we report a PGD test for a couple who were heterozygous for CD36/37(-T) mutation in HBB gene and had terminated one affected pregnancy. Methods: Haplotype analysis of 6 flanking STR markers as well as variant detection by cycle sequencing were included in our PGD test in order to investigate the status of the embryos reliably. Results: Three out of five embryos were transferable. Conclusions: One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a healthy girl.","PeriodicalId":322022,"journal":{"name":"Journal of Human Genetics and Genomics","volume":"10 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2020-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Human Genetics and Genomics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5812/jhgg.109503","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesis and bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affected pregnancy to have a healthy child. Objectives: Here we report a PGD test for a couple who were heterozygous for CD36/37(-T) mutation in HBB gene and had terminated one affected pregnancy. Methods: Haplotype analysis of 6 flanking STR markers as well as variant detection by cycle sequencing were included in our PGD test in order to investigate the status of the embryos reliably. Results: Three out of five embryos were transferable. Conclusions: One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a healthy girl.