Preimplantation Genetic Diagnosis for Beta Thalassemia

Background: Beta thalassemia is an autosomal recessive genetic disease with the symptoms of severe anaemia, ineffective erythropoiesisand bone deformities. Preimplantation genetic diagnosis is a noninvasive clinical tool for couples who are at risk of affectedpregnancy to have a healthy child.Objectives: Herewereport aPGDtest for a couplewhowere heterozygous for CD۳۶/۳۷(-T) mutation inHBBgene and had terminatedone affected pregnancy.Methods: Haplotype analysis of ۶ flanking STR markers as well as variant detection by cycle sequencing were included in our PGDtest 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 ahealthy girl.

Keywords:

Preimplantation Genetic Diagnosis , HBB , Beta Thalassemia