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Haemophilia A (HA), inherited via an X-linked recessive pattern, is the most common severe lifelong bleeding disorder caused by mutations in the coagulation factor VIII gene (F8). It has significant socio-economic effects due to its long course of disease and high cost of care. These impacts argue for a more accurate genetic diagnosis in an increasingly complex clinical environment.

Hemizygous F8 p.G201E mutation identified in a Chinese family with haemophilia A