Prevalence of antithrombin deficiency in the healthy population

Tait, R. C.; Walker, Isobel D.; Perry, David J.; Islam, S. I. A. M.; Daly, Mary E.; McCall, Frances; Conkie, J.A.; Carrell, Robin W.

doi:10.1111/j.1365-2141.1994.tb04878.x

Cited by 364 publications

(242 citation statements)

References 26 publications

Supporting

Mentioning

222

Contrasting

Unclassified

Order By: Relevance

“…This compound heterozygous patient, who had a R147W mutation and a one-base deletion causing a frameshift followed by an early termination, first developed DVT at the age of 24 years. The same R147W mutation was reported later by Tait et al in an asymptomatic kin [16]. Now, we found that it was the most common genetic defect in symptomatic patients with protein C deficiency in Taiwanese Chinese.…”

Section: Discussionsupporting

confidence: 88%

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

Tsay

Shen

2004

American J Hematol

View full text Add to dashboard Cite

We analyzed the genetic defects of 21 unrelated patients with venous thrombosis in whom hereditary protein C deficiency was diagnosed. Eleven mutations were detected in 18 families, while no mutation was detectable in the other three families. Among these mutations, a common genetic mutation of protein C (PROC) gene recurred in 43% (nine propositi from these 21 families). This C6152T mutation at exon 7 resulted in a missense mutation, Arg147Trp (R147W). Each propositus or family carrier had another specific polymorphism T66C at exon 2, which did not change the proline at position (-21). The haplotype analysis strongly suggested a founder effect. The first thrombotic attack was significantly younger in patients with multiple genetic defects or combined with other risk factors than those without precipitating factors. We further studied the prevalence rate of R147W mutations in normal populations through PCR amplification and dot hybridization. Three different cohorts got similar results. The prevalence rate of R147W in health controls is 0.85% [95% confidence interval (CI) 0.35-1.35]. Analysis of plasma protein C levels of all patients or carriers suggested that R147W was a type II deficiency. The odds ratio of thrombosis of R147W is 5.1 (95% CI 1.7-14.8). Taken together, R147W mutation is a significant thrombotic risk factor and is the most common defect of PROC gene in Taiwanese patients with protein C deficiency. This finding is important for screening thrombophilic families in Chinese populations. Am.

show abstract

Section: Discussionsupporting

confidence: 88%

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

Tsay

Shen

2004

American J Hematol

View full text Add to dashboard Cite

show abstract

“…The prevalence of heterozygous protein C deficiency is estimated to be one in 200 to 300, or 500 of the general Western population (23,24). In Japan, it is reported to be one in 620 (25).…”

Section: Discussionmentioning

confidence: 99%

Mesenteric Venous Thrombosis in Hereditary Protein C Deficiency with the Mutation at Arg169 (CGG.RAR.TGG).

et al. 2003

View full text Add to dashboard Cite

A 39-year-old man with no significant medical history was admitted to our hospital with severe abdominal pain and melena. Computed tomographic (CT) scans demonstrated superior mesenteric venous thrombosis. Although thrombolysis and anticoagulant therapy was started immediately, symptoms of strangulation ileus developed.Laparotomy was therefore performed and revealed necrotic stenosis of the ileum. The patient, his father and sisters showed low protein C levels. Direct sequencing analysis of their protein C gene revealed a heterozygous mutation at codon 169 corresponding to the cleavage site of the activation peptide, which was referred to as protein C Tochigi. (Internal Medicine 42: 110-116, 2003)

show abstract

“…Heterozygosity for protein C deficiency is inherited in an autosomal dominant fashion and affects between 0.2% -0.5% of the population [54] [55]. However, there is a lot of variation in phenotype and many carriers will be asymptomatic.…”

Section: Protein C Deficiencymentioning

confidence: 99%

“…In another population-based cohort study examining VTE risk among women with PCOS who were not using hormonal contraception the relative risk of VTE compared to non PCOS subjects was 1. 55 …”

Section: Polycystic Ovary Syndromementioning

confidence: 99%

Contraception and Venous Thromboembolism: Risk Factors and Clinical Considerations

Waddington¹,

Ferguson²,

Reid³

2017

OJOG

View full text Add to dashboard Cite

Venous thromboembolism (VTE) is a known risk with some forms of hormonal contraception, and should be considered by health care providers when counselling patients about their contraceptive options. Various other risk factors exist for VTE, including family history of VTE and a personal history of VTE or thrombophilia. This article will summarize various known risk factors for VTE, as well as what is known about the VTE risk imparted by the use of different contraceptives.

show abstract

Prevalence of antithrombin deficiency in the healthy population

Cited by 364 publications

References 26 publications

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

R147W mutation of PROC gene is common in venous thrombotic patients in Taiwanese Chinese

Mesenteric Venous Thrombosis in Hereditary Protein C Deficiency with the Mutation at Arg169 (CGG.RAR.TGG).

Contraception and Venous Thromboembolism: Risk Factors and Clinical Considerations

Contact Info

Product

Resources

About