Preimplantation diagnosis for β-thalassemia combined with HLA matching: first 'savior sibling' is born after embryo selection in Brazil.

摘要

[3-Thalassemia is a common hereditary hemoglobinopathy disorder that affects many organs and represents the most common monogenetic disorder worldwide [8, 11]. Diverse phenotypes exist within the (3-thalassemia syndromes, ranging from the (3-thalassemia minor to the (3-thalassemia major [3]. (3-Thalassemia major is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in severe anemia and hepatosplenomegaly [3, 11].