Preimplantation Genetic Diagnosis for Beta Thalassemia

 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.

 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.

 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.

 Three out of five embryos were transferable.

 One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a healthy girl.