en عمومى Human Genetics پژوهشي Research <div style="text-align: justify;"><strong>Background</strong>: 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.<br> <strong>Objectives</strong>: Herewereport aPGDtest for a couplewhowere heterozygous for CD36/37(-T) mutation inHBBgene and had terminated one affected pregnancy.<br> <strong>Methods</strong>: 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.<br> <strong>Results</strong>: Three out of five embryos were transferable.<br> <strong>Conclusions</strong>: One normal and one carrier embryo were transferred which resulted in the singleton pregnancy and the birth of a<br> healthy girl.</div> 0 0 http://humangeneticsgenomics.ir/browse.php?a_code=A-10-182-3&slc_lang=en&sid=1