Open AccessPreimplantation Genetic Diagnosis for Beta Thalassemia
Author(s) -
Faravareh Khordadpoor Deilamani,
Mohammad Taghi Akbari
Publication year - 2020
Publication title -
journal of human genetics and genomics
Language(s) - English
Resource type - Journals
ISSN - 2588-6479
DOI - 10.5812/jhgg.109503
Subject(s) - preimplantation genetic diagnosis , pregnancy , thalassemia , genetic testing , medicine , beta thalassemia , haplotype , genetic diagnosis , embryo , ineffective erythropoiesis , prenatal diagnosis , genetics , mutation , erythropoiesis , obstetrics , fetus , biology , gene , genotype , anemia
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.