The prevalence of inherited thrombophilic polymorphisms in an asymptomatic Australian antenatal population

Abstract

The prevalence of these polymorphisms is consistent with previously published data in Caucasian populations. These data will provide the basis for further assessment of the relationship between poor pregnancy outcome and these inherited thrombophilic polymorphisms in an asymptomatic antenatal population.

A preliminary study of inherited thrombophilic risk factors in different clinical manifestations of venous thromboembolism in central Iran

“…The polymorphism results in a modest increase in homocysteine in plasma which may have a pathogenic significance in thrombosis 26 27 . Hyperhomocysteinemia may not be a direct cause of thrombosis but a marker of systemic or endothelial stress and platelet activation 28 .…”

The Impact of Inherited Thrombophilia on Placental Haemostasis and Adverse Pregnancy Outcomes

“…Another significant limitation of case-control studies is the variation in the ethnic distribution of inherited thrombophilias. A number of studies have now highlighted the significant ethnic variation in the prevalence of various thrombophilias (Rees et al 1995;Herrmann et al 1997;Said et al 2006;Said et al 2008) but it is important to note that even within predominantly Caucasian populations, significant ethnic variation in the prevalence of inherited thrombophilias exists by virtue of different migration patterns (Said et al 2006). Failure to take into account the specific prevalence of inherited thrombophilias in the ethnic group being studied, and account for the potential interaction of other co-inherited thrombophilias, can result in studies that are underpowered and thus unable to answer questions regarding the association between inherited thrombophilias and adverse obstetric outcomes.…”

Polimorfismos genéticos relacionados à hemostasia e a sua relação com abortos espontâneos recorrentes

“…Para o polimorfismo THDB 1418 C>T, as frequências do alelo 1418T em mulheres com AER primário (13,2%) e secundário (12,6%) em nosso estudo, foram semelhantes a encontrada em indivíduos franceses (12%, p>0,05) (Olivot et al, 2008) , e também foi semelhante a frequência encontrada em mulheres nulíparas australianas (17,3%, p<0,05) (Said et al, 2008). (Pihusch et al, 2001;Jacquemin et al, 2008;Morozumi, Sharma e De Nardin, 2009 G>A com o maior risco de ter AER primário (Balasch et al, 1997;Pickering, Marriott e Regan, 2001;Pihusch et al, 2001;Rai et al, 2001;Carp et al, 2002 (Pihusch et al, 2001).…”

“…Em mulheres australianas grávidas da população em geral a presença desse polimorfismo foi de 3,4% em homozigose e 27,7% em heterozigose, totalizando 31,1% das mulheres portadoras do alelo mutado (Said et al, 2008).…”

“…(Cook et al, 2001); c: (Heit et al, 2005;Said et al, 2008); d: (Ghosh, Shetty e Vora, 2009;De Paula Sabino et al, 2011;Gonçalves-Filho et al, 2011); e: (Rees, Cox e Clegg, 1995;Ridker et al, 1997;Rodrigues et al, 2004); f: (Rosendaal et al, 1998), g: (Martini et al, 2006;Verdú et al, 2008;Masini et al, 2009).…”