Symptomatic thrombosis in Turkish neonates.
OBJECTIVE
To investigate the association of two common prothrombotic mutations, factor V G1691A (FV G1691A) and prothrombin G20210A (PT G20210A), in neonates with thrombosis.


METHODS
Twenty-six neonates with thrombosis were assessed with the spectrum of assays for thrombophilia, including the two DNA-based prothrombotic factors.


RESULTS
Eight patients (31%) had the FV G1691A mutation in heterozygous state. PT G20210A mutation was detected in four patients (15%). Overall, two common prothrombotic factors were detected in 12 neonates (46%) and an underlying disease or a triggering event in 18 neonates (69%). Thrombosis was considered to be idiopathic in five neonates (19%).


CONCLUSIONS
The pathogenesis of thrombosis in neonates is multi-factorial. Along with underlying diseases or triggering events, congenital prothrombotic factors (FV G1691A and PT G20210A) showed a trend toward a higher frequency in neonates with thrombosis. These data indicate that mutations associated with underlying disorders in neonates may contribute to the development of thromboembolic disease.
Gurgey
Aytemiz
A
University of Hacettepe, Faculty of Medicine, Ankara, Turkey. agurgey@hacettepe.edu.tr
Tekinalp
Gulsevin
G
Cinar
Asli
A
Cakmak
Fatmanur
F
D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D012307:Risk Factors; D013927:Thrombosis / Q000235:genetics*; D014421:Turkey
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin