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: Herewereport aPGDtest for a couplewhowere heterozygous for CD36/37(-T) mutation inHBBgene 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.