Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis

Abstract

In conclusion, genetic diagnosis of 14 unrelated HA subjects, 20 carrier subjects, three fetuses, and one PGD was successfully performed in our study.

Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population

“…reportedly associate with moderate and severe severity of the disease, 25,26 but in our case, it is interesting to find the genotype-FIX:C umbilical cord blood for prenatal diagnosis of hemophilia A, 27 we did not suggest that the level of F9 clotting activity in umbilical cord blood could be used as a reference resource, because the levels of F9 clotting activity would be increased during the gestation and did not consistent with the results of gene detection in our practice.…”

“…Coagulation F 9 umbilical cord blood for prenatal diagnosis of hemophilia A, 27 we did not suggest that the level of F9 clotting activity in umbilical cord blood could be used as a reference resource, because the levels of F9 clotting activity would be increased during the gestation and did not consistent with the results of gene detection in our practice. This report recommended the use of specific standard terminology: "pathogenic," "likely pathogenic," "uncertain significance," "likely benign," and "benign" to describe variants identified in Mendelian disorders.…”