Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon.
OBJECTIVE
Molecular diagnostics has markedly improved the diagnosis and workup of different clinical conditions including hypercoagulable state or thrombophilia where different genes are involved. In this report, which is the largest report in the medical literature and the first in Lebanon, we describe the prevalence of simultaneous mutations in the three major thrombophilia genes Factor V, Factor II, and methylenetetrahydrofolate reductase.


METHODS
Using a polymerase chain reaction and reverse hybridization assay for the corresponding mutations identification, 2248 referred cases were analyzed.


RESULTS
Only 25 cases were found to be simultaneously positive for the three mutations at a prevalence rate of 1.1%.


CONCLUSIONS
Compared with other populations, this prevalence rate is considered high, possibly the highest, and warrants future clinical studies and follow-up.
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Rouba
R
Hoteit
Ali
A
Taher
Rabih
R
Nassar
Zaher
Z
Otrock
Racha
R
Halawi
Rami A R
RA
Mahfouz
D000046:Academic Medical Centers; D044466:Asian People / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D015995:Prevalence; D011516:Prothrombin / Q000235:genetics*; D012017:Referral and Consultation; D012307:Risk Factors; D019851:Thrombophilia / Q000453:epidemiology / Q000235:genetics*
D005165:Factor V; D011516:Prothrombin; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)