Phát hiện đột biến gen F8 và xác định người lành mang gen bệnh trong phả hệ gia đình một bệnh nhân Hemophilia A

Hemophilia A is an X-linked genetic recessive bleeding disorder inherited through many generations; this condition resulted in severe consequences for the family and society. The aim of this study was to investigate F8 mutation in the hemophilia A patient and detect the female carriers in family members. Results showed that c.5264 T C mutation (p. 1698 Thr lie) in exon 14 of the F8 gene was found in the patient. Among 12 female members, 7/12 members were found as carriers.