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Assessment of the Value of Factor VIII Procoagulant and Antigen Ratio in the Diagnosis of Carriers of Haemophilia *
Author(s) -
D'Souza S.,
Ekert H.,
Ananthakrishnan R.,
Wluntz R. H.
Publication year - 1976
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1976.tb03658.x
Subject(s) - medicine , haemophilia a , value (mathematics) , haemophilia , antigen , immunology , pediatrics , statistics , mathematics
Summary: Assessment of the value of factor VIII Procoagulant and antigen ratio in the diagnosis of carriers of haemophilia. S. D'Souza. H. Ekert. R. Ananthakrishnan and R. H. Muntz The detect/on rate of carriers of haemophilia was evaluated using the ratio of factor VIII Procoagulant activity (VIIIc) to factor VIII antigen (VIIIag). In normals the correlation coefficient of VIIIc to VIIIag was 0–82. In 15 obligatory carriers of haemophilia whose VIIIc and VIIIag levels were studied in the authors' laboratory there was no correlation between VIIIc and VIIIag and the ratio of VIIIc to VIIIag was below the lowest normal value in 12 (80%). In all five obligatory carriers whose VIIIc levels were estimated in the referring institution and VIIIag levels in the authors' laboratory the ratio was below the lowest normal value. In 17 sisters of hemophiliacs studied here or referred for estimation of VIIIag only, an abnormal ratio was found in seven. Of 25 mothers of hemophilic children without a family history of haemophilia 16 were found to have an abnormal ratio. This incidence of haemophilia carriers is close to that expected on theoretical grounds but the interpretation of the results is complicated by the small numbers of patients all of whose studies were performed entirely in the authors' laboratory. In two normal individuals, one of who was on a contraceptive pill, there were no fluctuations of the ratio of VIIIc to VIIIag during the menstrual cycle. In one obligatory carrier with a normal ratio there was also no fluctuation. It is concluded here that a measurement of the ratio of VIIIc to VIIIag is a valuable adjuvant in genetic counselling in haemophilia.