Phát hiện người lành mang gen bệnh và chẩn đoán trước sinh bệnh Hemophilia A

Hemophilia A is a recessive gene X related, hereditary disease, Currently, there is no effective treatment for a complete cure. Accurate diagnosis and early management of this disease is important to prevent hemolysis resulting as a disabling condition. Genetic counseling, carrier detection, prenatal diagnosis are effective solutions to prevent and reduce the incidence. This study was carried out to detect the carriers in family members of hemophilia A patients and prenatal diagnosis of high risk mothers; 13 female members of 10 hemophillia A patient families were selected for this study. Inversion PCR and sequencing methods have been used. The results showed that 8 out of 13 female members were found to have heterozygous mutation in F8 gene; for prenatal diagnosis, 1 out of 3 male fetuses were affected and pregnancy was terminated.