Successful preimplantation genetic diagnosis of α-and β-double thalassemia combined with HLA typing by next generation sequencing

Introduction: The thalassemia is a group of hereditary anaemias characterized by reduced or even absent production of one of the globin chains of hemoglobin (Hb),which is prevalent in the Mediterranean region and Southeast Asia. In Southeast China, α-and β-thalassemia constitute the majority of monogenetic disorders with the average carrier rates as high as 10.3% and 8.5%, respectively. Patients with severe thalassemia need to be treated with regular blood transfusion. Stem cell transplantation is still the only radical cure method. PGD in combination with HLA typing offers a feasible choice for families design to preselect unaffected embryos that are HLA antigen compatible with a sibling needing cord blood transplantation. NGS is the latest breakthrough encouraging method for PGD/PGS, offering reliability, higher throughput and personalized assays.