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Determinants of factor VIII plasma levels in carriers of haemophilia A and in control women
Author(s) -
AY C.,
THOM K.,
ABUHAMDEH F.,
HORVATH B.,
QUEHENBERGER P.,
MALE C.,
MANNHALTER C.,
PABINGER I.
Publication year - 2010
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2009.02108.x
Subject(s) - medicine , haemophilia a , fibrinogen , abo blood group system , partial thromboplastin time , von willebrand factor , haemophilia , coagulation , body mass index , immunology , population , endocrinology , platelet , surgery , environmental health
Summary. Factor VIII (FVIII) levels show a considerable variability in female carriers of haemophilia A. Presently, the reasons for this are poorly understood. The aim of the study was to elucidate the influence of genetic and non‐genetic parameters on FVIII plasma levels in carriers ( n = 42). Results were compared with age‐matched healthy women without carriership of haemophilia A ( n = 42). Each carrier was tested for the family‐specific mutation, ABO blood group, FVIII level, von Willebrand factor (VWF) antigen and activity and C‐reactive protein (CRP). FVIII levels were lower in carriers compared to non‐carriers [74% (51–103) vs. 142% (109–169), P < 0.001]. No statistically significant differences were observed between the two groups with respect to VWF activity, prothrombin–time, hs‐CRP, fibrinogen, body mass index (BMI), age and smoking status as well as the distribution of ABO blood groups. In non‐carriers, FVIII was statistically significantly correlated with BMI, activated partial thromboplastin time (APTT), VWF antigen, hs‐CRP and fibrinogen. In carriers, significant correlations between FVIII and APTT, VWF antigen and activity were found, whereas BMI, hs‐CRP or fibrinogen did not correlate with FVIII. In non‐carriers, the association of FVIII with ABO blood groups was statistically significant ( P = 0.006), but not in carriers of haemophilia A ( P = 0.234). The type of FVIII gene mutation did not influence FVIII levels. Carrier status is the major determinant of a carrier`s FVIII plasma level. Factors known to influence FVIII levels in the general population do not significantly affect FVIII activity in carriers, neither does the type of mutation influence FVIII levels.