Article
Haemophilia A: molecular insights.
Clinical chemistry and laboratory medicine - 1 Jan 2007
Castaldo Giuseppe, D'Argenio Valeria, Nardiello Paola, Zarrilli Federica, Sanna Veronica, Rocino Angiola, Coppola Antonio, Di Minno Giovanni, Salvatore Francesco
Abstract excerpt
Haemophilia A is the most common inherited bleeding disorder caused by defects in the F8C gene that encodes coagulation factor VIII. This X-linked recessive disorder occurs in approximately 1:5000 males. Haemophilia A is diagnosed based on normal prothrombin time, altered activated partial thromboplastin time and reduced factor VIII activity in plasma. Carrier females are usually asymptomatic and can be...
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