Development of the routine laboratory diagnosis of activated protein c resistance and its evaluation in a population of pregnant women
Venous thromboembolic disease is a common health problem. It contributes considerably to morbidity as well as to mortality. Thrombosis usually occurs due to an underlying risk factor which may be environmental or genetic in origin. The recently described activated Protein C (APC) resistance is the commonest cause of familial thrombophilia documented to date. The molecular lesion is a single point mutation in the factor V (FV) gene which abolishes a cleavage site whereby it is normally inactivated by APC. This defect, termed the FV Leiden mutation, is highly prevalent in normal Caucasian populations. Although it would appear to have arisen due to a founder effect, there is a paucity of data concerning non-Caucasian populations.
A Research Report submitted to the Faculty of Medicine, University of the Witwatersrand, in part fulfilment of the requirements for the degree of Master of Medicine in the branch of Haematology Johannesburg, October 1997