Study of factor VIII in haemophilia:[A] patients with a trial of carrier detection

ABSTRACT

This study was carried out on 48 subjects from about 18 haemophilia A families attending the haematology clinic at New Children Hospital, Cairo University. They were Classified into 24 haemophilic male patients, 13 potential and 11 obligatory carriers. Fifteen healthy controls of the same age group were included in this work. Patients, carriers and controls were subjected to full clinical examination and laboratory studies. F VIII coagulant activity [F VIII C] was markedly reduced in all patients and even absent in two of them. It was also reduced in 8 of the obligatory carriers, decreased in five of the potential carriers and was increased in two pregnant obligatory carriers. F VIII related antigenic [F VIII Ag] was normal or increased in haemophiliacs, minimally decreased in carriers, 90+ACU- in obligatory and 79+ACU- in potential carriers. F VIII C/F VIII Ag ratio was one in normal controls, 0.5 in obligatory carriers, 0.8 in potential carriers and 0.02 in haemophiliacs