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Blood, Vol. 94 No. 9 (November 1), 1999:
pp. 3062-3066
Coinheritance of the HR2 Haplotype in the Factor V Gene Confers an
Increased Risk of Venous Thromboembolism to Carriers of Factor V
R506Q (Factor V Leiden)
E.M. Faioni,
F. Franchi,
P. Bucciarelli,
M. Margaglione,
V. De
Stefano,
G. Castaman,
G. Finazzi, and
P.M. Mannucci
From the Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and
Department of Internal Medicine, IRCCS Maggiore Hospital and University
of Milano, Milan, Italy; the Unità di Aterosclerosi e Trombosi,
IRCCS Casa Sollievo della Sofferenza di San Giovanni Rotondo, Foggia,
Italy; the Department of Hematology, Catholic University, Rome, Italy;
the Division of Hematology, S. Bortolo Hospital, Vicenza, Italy; and
the Division of Hematology, Ospedali Riuniti, Bergamo, Italy.
With the aim of establishing whether the HR2 haplotype in factor V
affects the risk of venous thromboembolism, a retrospective multicenter
cohort study was performed in 810 family members identified through 174 probands who suffered from at least 1 episode of deep vein thrombosis
and/or pulmonary embolism and had an inherited defect associated with
thrombophilia (antithrombin, protein C, or protein S deficiency; factor
V R506Q or prothrombin G20210A). Fifty-eight percent (468/810) of the
family members had an inherited defect and 10% (47/468) were
symptomatic. The HR2 haplotype was found in association with factor V
R506Q more frequently in family members with venous thromboembolism
(18%) than in those without (8%). Double heterozygosity for factor V
R506Q and HR2 conferred a 3- to 4-fold increase in the relative risk of
venous thromboembolism compared with factor V R506Q alone. The median
age at first event was lower when the 2 defects were associated (46 v 52 years). No increase in risk of venous thromboembolism
could be demonstrated when the HR2 haplotype was associated with
inherited thrombophilic defects other than factor V R506Q. Because both
factor V R506Q and the HR2 haplotype are very frequent, the effect of
their coinheritance on the risk of venous thromboembolism might
represent a clinically relevant issue, and screening for HR2 in
carriers of factor V R506Q should be considered.
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