Potential prevention of thromboembolism by genetic counseling and testing for two common thrombophilia mutations.
OBJECTIVE
Thrombophilia is a multifactorial predisposition for thromboembolism affecting about a tenth of any population. We investigated whether genetic counseling combined with molecular testing for two common dominant mutations (coagulation factor V Leiden and prothrombin G20210A) may increase prevention of venous thromboembolic incidents in individuals with a positive family history compared to the general population.


METHODS
Mutation detection was carried out by Restriction Fragment Length Polymorphism analysis in DNA samples of 96 unrelated healthy Greeks (group A) who asked for genetic counseling for various reasons and had at least two relatives with thromboembolic incidents and 100 unrelated healthy Greeks (group B).


RESULTS
In group A, both mutations were detected at five-fold higher frequencies (33.33% for Leiden and 19.79% for G20210A) compared to group B, which had frequencies typically found in the Greek population (6% and 4%, respectively).


CONCLUSIONS
In populations with a high prevalence for these two common mutations, genetic counseling and molecular testing of at-risk individuals may significantly increase prevention of thromboembolic disease.
Department of Oral and Maxillofacial Surgery, University of Athens Medical School, Attikon Hospital, Rimini 1, Athens 12461, Greece. cyapijakis_ua_gr@yahoo.com
Christos
C
Yapijakis
Thalia
T
Antoniadi
Katerina
K
Salavoura
Costas
C
Voumvourakis
Eleftherios
E
Vairaktaris
D000328:Adult; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D013923:Thromboembolism / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control*; D019851:Thrombophilia / Q000235:genetics*; D055815:Young Adult
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin