COEXISTENCE OF A COMMON PROTHROMBOTIC
RISK FACTOR AND HEMOPHILIA IN THE
BULGARIAN HEMOPHILIC POPULATION:
GENOTYPE/PHENOTYPE CORRELATIONS
Petkova R1, Chakarov S2, Horvath A3, Ganev V3, Kremensky I1 *Corresponding Author: Dr. Rumena Petkova, Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynaecology “Maichin dom’, No 2 Zdrave Str, 1432 Sofia, Bulgaria; Tel: +359 2 952 049 0; Fax: +359 2 952 012 4; E-mail: RumenaPetkova@yahoo.com page: 37
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DISCUSSION
The G1691A mutation (factor V Leiden ) is one of the common causes of inherited thrombophilia. This genetic defect of coagulation factor V results in resistance to degradation by APC and increases the risk of thrombotic events. Coinheritance of a mutation that gives rise to hemophilia and a prothrombotic risk factor such as factor V Leiden, might result in a milder clinical course, but also in severe complications such as thromboembolism during the course of therapy.
None of the Bulgarian patients with low cogulation factor levels but significantly milder than expected clinical course included in this study was found to carry the factor V Leiden mutation. The hemophilia-affected patient who was found to be heterozygous for the G1691A mutation does not display amelioration of the clinical manifestations of his severe bleeding disorder.
Thus, we suggest that the proportion of severe hemophiliacs, whose mild clinical course can be attributed to factor V Leiden in the Bulgarian population, is quite small, or there might be a negative intrauterine selection against male fetuses carrying more than one defect in the clotting factor genes.
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