Abstract
Preimplantation genetic diagnosis (PGD) for HLA typing is steadily becoming an option for at risk couples with thalassemic children, requiring HLA matched bone marrow transplantation treatment. The paper presents the world’s largest PGD experience of 475 cases for over 2 dozens thalassemia mutations, resulting in birth of 132 unaffected children. A total of 146 cases were performed together with preimplantation HLA typing, resulting in detection and transfer of HLA matched unaffected embryos in 83 of them, yielding the birth of 16 HLA matched children, potential donors for their affected siblings. The presented experience of HLA matched stem cell transplantation for thalassemia, following PGD demonstrated a successful hematopoietic reconstitution both for younger and older patients. The data show that PGD is an efficient approach for HLA matched stem cell transplantation treatment for thalassemia.
Highlights
A total of 475 Preimplantation genetic diagnosis (PGD) cycles were performed for 276 couples at risk for producing offspring with thalassemia and sickle cell disease (Table 1)
PGD cycles were performed using a standard IVF protocol coupled with micromanipulation procedures for the polar body (PB) sampling, or embryo biopsy at cleavage or blastocyst stage, Key words: preimplantation genetic diagnosis for hemoglobinopathies, preimplantation HLA typing, stem cell transplantation
PGD with HLA typing for thalassemia and sickle cell disease was performed in 146 cases (137 for thalassemia and 9 for sickle cell disease), which resulted in transfer of 130 unaffected HLA matched embryos (121 and 9 respectively) in 83 cycles, yielding 21 clinical pregnancies and birth of 16 unaffected HLA match children
Summary
PGD cycles were performed using a standard IVF protocol coupled with micromanipulation procedures for the polar body (PB) sampling, or embryo biopsy at cleavage or blastocyst stage, Key words: preimplantation genetic diagnosis for hemoglobinopathies, preimplantation HLA typing, stem cell transplantation. 2014 risk couples with thalassemic children, requir- transferred, depending on the genotype of the Licensee PAGEPress, Italy ing HLA matched bone marrow transplantation corresponding PB1 and PB2, which, Thalassemia Reports 2014; 4:1853 treatment.
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