Phát hiện người lành mang gen bệnh trong gia đình bệnh nhân Hemophilia A

Hemophilia A is the most common inherited X-linked recessive bleeding disorder. The severity of the resulted bleeding diathesis depends on the FVIII levels associated with the mutation. Analysis of the carrier state can be made by identifying the mutation that leads to the disease. The aim of this study was to identify the prevalence of the carriers in family members of hemophillia A patients. the authors used Inversion Polymerase Chain Reaction (I-PCR), direct sequencing methods for carrier detection of F8 gene and phylogenetic analysis of the family. The results showed that 48/76 (63.2 percent) carriers were detected in family members of hemophillia A patients.