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

Abstract

It has been suggested that the clinical course of severe hemophilia A can be influenced by coinheritance of molecular defects that alone cause increased risk of venous thromboembolism at an early age. We have investigated 31 Bulgarian patients suffering from severe hemophilia A and B below 1%, as determined by factor VIII and factor IX activity levels, respectively. Three hemophilia A patients (10%) had a surprisingly mild presentation. The heterozygous factor V Leiden mutation (G1691A) was found in one patient who did not display amelioration in the clinical phenotype. Thus, the present study suggests that in the Bulgarian hemophiliac population, a milder clinical course cannot be attributed to coinheritance of the prothrombotic risk factor factor V Leiden, or the proportion of such cases in which the prothrombotic defect moderates the underlying coagulation defect, is quite small.

Key words: hemophilia, prothrombotic risk factor, genotype.




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