ĐẶC ĐIỂM ĐỘT BIẾN GEN F8 Ở CÁC GIA ĐÌNH THAM GIA XÉT NGHIỆM DI TRUYỀN TRƯỚC LÀM TỔ BỆNH HEMOPHILIA A

Abstract

Introduction: Hemophilia A is a common inherited blood clotting disorder in the world and in Vietnam. Preimplantation genetic testing for monogenic disease (PGT-M) help couple at risk of disease having healthy livebirth and preventing hemophilia A. Objectives: Identification of F8 gene mutations in 16 families participanting in the preimplantation genetic testing for hemophilia A. Method: cross sectional study description with analysis in families participants in the preimplantation genetic testing for hemophilia A. Results: 100% of families participating in preimplantation genetic testing for hemophilia A have carrier wife and healthy husband. The percentage of families with a child born with hemophilia A was 87.5%, the rate of pregnant termination due to pregnancy with hemophilia A was 6.25%. The F8 gene mutation of the family: intron 22 inversion accounted for 62.5%, exon 14 mutation accounted for 31.25%, exon 11 mutation accounted for 6.25%. Conclusions: In families participating in the preimplantation genetic testing of Hemophilia A, intron 22 mutation accounts for the highest rate 62.5%, a lower rate was mutation in exon 14 accounting for 31.25% and mutation in exon 11 accounting for 6.25%.