A Thai Patient with the Mutation of Arg306 of FV Gene Identical to the Hong Kong but not to the Cambridge Type

Hiyoshi, M; Hashimoto, Shigemi; Tagawa, Shinichi; Arnutti, Pasra; Prayoonwiwat, Wichai; Tatsumi, Noriyuki

doi:10.1055/s-0037-1614870

Cited by 9 publications

(1 citation statement)

References 7 publications

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“…l FV Hong Kong: se produce por un cambio de arginina a glicina en la posición 306 de la cadena proteica del FV; esta alteración se encuentra primordialmente en la población asiática, pero a diferencia del anterior, no se asocia a resistencia a la PCa (9).…”

Section: Resistenciaunclassified

Trombofilias heredadas y pérdida gestacional recurrente

Ospina

Maya

Jaramillo

2002

Iatreia

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Una de las causas de pérdida gestacional recurrente es la trombofilia, que se define como una tendencia a la trombosis o hipercoagulabilidad, con variabilidad en las manifestaciones clínicas dependiente de la región vascular afectada por la ausencia de flujo sanguíneo. Las trombofilias se pueden clasificar como heredadas y adquiridas de acuerdo con la naturaleza de su causa. Entre las trombofilias heredadas están el factor V Leiden, la protrombina G20210A, la metilentetrahidrofolato reductasa C677T, las deficiencias de los anticoagulantes naturales antitrombina III, proteína C y proteína S, las disfibrinogenemias y la homocistinuria. En el grupo de las trombofilias adquiridas se encuentran el síndrome antifosfolípido, la resistencia a la proteína C activada sin alteraciones en el gen del factor V y la hiperhomocisteinemia leve o moderada. Este artículo es una revisión de la literatura de estudios recientes que han buscado la asociación entre las diferentes trombofilias y la pérdida gestacional recurrente. Se incluyen las recomendaciones diagnósticas, profilácticas y terapéuticas para mujeres con trombofilia y pérdida gestacional.

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Section: Resistenciaunclassified

Trombofilias heredadas y pérdida gestacional recurrente

Ospina

Maya

Jaramillo

2002

Iatreia

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Polymorphisms in factor V and antithrombin III gene in recurrent pregnancy loss: a case–control study in Indian population

Sharma

Bhakuni

Ranjan

et al. 2015

J Thromb Thrombolysis

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Recurrent pregnancy loss (RPL) can be caused due to diverse factors with thrombophilia being one of them. The association of various thrombophilic risk factors with RPL is inconsistent in different studies and the frequency of these risk factors in Indian population is obscure. Five hundred and eighty patients with either recurrent early miscarriage or a history of at least one late miscarriage were screened for deficiency of protein C (PC), protein S (PS), antithrombin III (AT), APC resistance and prothrombin 20210G > A mutation. APC resistance positive patients were typed for the factor V Leiden, factor V Hong Kong/Cambridge mutations, and HR2 haplotype. PstI and rs2227589 AT mutations were detected by direct sequencing. APC resistance (13.4 %) was detected to be most common in Indian RPL patients followed by PS (10.6 %), PC (9.8 %) and AT deficiency (4.31 %.). FV Leiden was shown to be associated with APC resistance while HR2 haplotype was not associated with APC resistance (p values: 0.0001 and 0.327 respectively) and the increased risk of RPL. PstI and rs2227589 polymorphisms were similar in patients and controls and not associated with AT deficiency in RPL. Our study emphasizes the presence of other contributory factors towards APC resistance rather than FV Leiden alone. This is the first Indian study where HR2 haplotype and rs2227589 are observed to be present in RPL population. Although not significant, occurrence of rs2227589 and FV HR2 in homozygous condition necessitates the study of these polymorphisms in a larger sample size.

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The genetics of venous and arterial thromboembolism

Lillicrap

2001

Curr Atheroscler Rep

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There is substantial evidence to indicate that the pathologic processes of venous and arterial thromboembolism involve both genetic and environmental influences. Scientific progress over the past decade has revealed a growing number of genetic factors, such as factor V Leiden and the prothrombin gene variant, that are present in more than 1% of the population and increase the relative risk of venous thrombosis between two- and sevenfold. Furthermore, several of these factors have been demonstrated to interact adversely with environmental influences, such as oral contraceptives and smoking. Although these traits are present at relatively high prevalence in the population, the magnitude of the increased thrombotic risk associated with these factors is substantially less than that related to inherited deficiency of the natural anticoagulant protein antithrombin, and somewhat less than the elevated risk with protein C and protein S deficiencies. In contrast to the progress that has been made in understanding the genetic contributions to venous thromboembolism, much still remains to be learned about the genetic basis of arterial thrombosis. Despite the documentation of associations between several genetic polymorphisms with plasma procoagulant levels, consistent associations with arterial thrombotic disease have not been found.

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A Thai Patient with the Mutation of Arg306 of FV Gene Identical to the Hong Kong but not to the Cambridge Type

Cited by 9 publications

References 7 publications

Trombofilias heredadas y pérdida gestacional recurrente

Trombofilias heredadas y pérdida gestacional recurrente

Polymorphisms in factor V and antithrombin III gene in recurrent pregnancy loss: a case–control study in Indian population

The genetics of venous and arterial thromboembolism

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